Gene: CHD2 -

Gene: CHD2 -
Human Gene Module
/ Chromosome 15 /
CHD2
CHD2
Chromodomain helicase DNA binding protein 2
SFARI Gene Score
1S
High Confidence, Syndromic
Criteria 1.1, Syndromic
Autism Reports /
Total Reports
40
/ 93
Rare Variants /
Common Variants
227
/ 0
EAGLE Score
25
Strong
Aliases
CHD2, EEOC
Associated Syndromes
Tourette syndrome
Chromosome Band
15q26.1
Associated Disorders
DD/NDD, ADHD, ID, EP, EPS, ASD
Genetic Category
Rare Single Gene Mutation, Syndromic, Functional
Relevance to Autism
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. TADA analyses in Sanders et al., 2015, Feliciano et al., 2019, and Satterstrom et al., 2020 have all identified CHD2 as a candidate gene with a false discovery rate (FDR) 0.01; novel de novo protein-truncating variants in CHD2 were also identified in the last two reports. A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in Zhou et al., 2022 identified CHD2 as a gene reaching exome-wide significance (P < 2.5E-06). De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
Molecular Function
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template.
External Links
Gene Card
Open Targets Platform
gnomAD browser
PubMed
Human
Entrez Gene
OMIM
UniProt
HumanBase
VariCarta
Mouse
Entrez Gene
Mouse Genome Informatics
Allen Brain Atlas
Zebrafish
Entrez Gene
SFARI Genomic Platforms
GPF browser
SFARI genome browser
Reports (93)
Variants (227)
Gene Score
Protein Interactions (25)
Reports related to CHD2
(93 Reports)
Type
Title
Author, Year
Autism Report
Associated Disorders
Support
Kulkarni S et al. (2008)
No
Support
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
Capelli LP , et al. (2011)
No
DD
Support
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Neale BM , et al. (2012)
Yes
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Rauch A , et al. (2012)
No
Epilepsy, ASD
Primary
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Carvill GL , et al. (2013)
No
ID, ASD, DD
Positive Association
De novo mutations in epileptic encephalopathies
Epi4K Consortium , et al. (2013)
No
IS, LGS, DD, ID, ASD, ADHD
Recent Recommendation
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
Suls A , et al. (2013)
No
ASD, ADHD
Support
Lund C et al. (2014)
No
Support
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Pinto D , et al. (2014)
Yes
10
Recent Recommendation
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
Chnier S , et al. (2014)
No
ASD, TS, ADHD
11
Support
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
EuroEPINOMICS-RES Consortium , et al. (2014)
No
12
Support
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder
Dong S , et al. (2014)
No
13
Support
De novo mutations in moderate or severe intellectual disability
Hamdan FF , et al. (2014)
No
Microcephaly
14
Support
Synaptic, transcriptional and chromatin genes disrupted in autism
De Rubeis S , et al. (2014)
Yes
15
Support
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov I et al. (2014)
Yes
16
Support
Large-scale discovery of novel genetic causes of developmental disorders
Deciphering Developmental Disorders Study (2014)
No
17
Support
Thomas RH et al. (2015)
No
ASD, ADHD
18
Support
Trivisano M et al. (2015)
No
19
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission
Iossifov I , et al. (2015)
Yes
20
Support
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Sanders SJ , et al. (2015)
Yes
21
Support
Pinto AM et al. (2016)
Yes
22
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Lelieveld SH et al. (2016)
No
23
Support
Genome-wide characteristics of de novo mutations in autism
Yuen RK et al. (2016)
Yes
24
Support
Gauthier-Vasserot A et al. (2017)
No
25
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort
Wang T , et al. (2016)
Yes
26
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
Trujillano D , et al. (2016)
No
27
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman HA , et al. (2017)
Yes
28
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
C Yuen RK et al. (2017)
Yes
29
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder
Willsey AJ , et al. (2017)
No
30
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay
Bowling KM , et al. (2017)
Yes
ADHD, OCD
31
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Lim ET , et al. (2017)
Yes
32
Support
Bernardo P et al. (2017)
No
Autistic features
33
Support
Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant
Lebrun N , et al. (2017)
Yes
ID, epilepsy/seizures
34
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
Takata A , et al. (2018)
Yes
35
Support
Caputo D et al. (2018)
No
36
Support
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter
Petersen AK , et al. (2018)
No
37
Support
Autism-linked CHD gene expression patterns during development predict multi-organ disease phenotypes
Kasah S , et al. (2018)
No
38
Recent Recommendation
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory
Kim YJ , et al. (2018)
No
39
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Guo H , et al. (2018)
Yes
40
Support
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders
Jiao Q , et al. (2019)
No
DD
41
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Monies D , et al. (2019)
No
42
Support
Routier L et al. (2019)
Yes
43
Support
Yamamoto T et al. (2019)
No
Autistic features, ID
44
Support
Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability
Borlot F , et al. (2019)
No
45
Support
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder
Munnich A , et al. (2019)
Yes
46
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Feliciano P et al. (2019)
Yes
47
Support
CHD2-related epilepsy: novel mutations and new phenotypes
Chen J , et al. (2019)
No
DD, ID, Afs
48
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism
Cappi C , et al. (2019)
No
49
Support
Poisson A et al. (2020)
No
50
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Satterstrom FK et al. (2020)
Yes
51
Support
Singh N et al. (2020)
Yes
52
Support
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Husson T , et al. (2020)
Yes
53
Support
Mitta N et al. (2020)
No
54
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Wang T et al. (2020)
Yes
ID
55
Support
Brunet T et al. (2021)
No
56
Support
Zou D et al. (2021)
No
57
Support
Trakadis Y et al. (2021)
No
DD, epilepsy/seizures
58
Support
Mahjani B et al. (2021)
Yes
59
Support
De Maria B et al. (2021)
No
ASD or autistic features, ADHD
60
Support
Li D et al. (2022)
Yes
61
Support
Wang Q et al. (2022)
No
62
Support
Brea-Fernández AJ et al. (2022)
No
63
Support
Luo X et al. (2022)
No
DD, ID
64
Support
Chuan Z et al. (2022)
No
65
Support
Wang X et al. (2022)
No
66
Support
Feng W et al. (2022)
No
Autistic features
67
Support
Stenshorne I et al. (2022)
No
68
Support
Zhou X et al. (2022)
Yes
69
Support
Lewis EMA et al. (2022)
No
70
Support
Shimelis H et al. (2023)
No
71
Support
Yuan B et al. (2023)
Yes
72
Support
Lasser M et al. (2023)
Yes
73
Support
Sheth F et al. (2023)
Yes
DD, ID
74
Support
Atefeh Mir et al. (2024)
No
75
Support
Ana Karen Sandoval-Talamantes et al. (2023)
Yes
ID
76
Support
Eleni Angelopoulou et al. (2023)
No
77
Support
Luigi Vetri et al. (2024)
No
78
Support
Marketa Wayhelova et al. (2024)
No
79
Support
Magdalena Badura-Stronka et al. (2024)
No
ID
80
Support
Francesca Cogliati et al. ()
No
DD, epilepsy/seizures
81
Support
Lei Wan et al. (2024)
Yes
82
Support
Angela Clara-Hwang et al. (2024)
No
ASD, ADHD
83
Support
Axel Schmidt et al. (2024)
No
ID
84
Support
Soo-Whee Kim et al. (2024)
Yes
85
Support
Hosneara Akter et al. ()
Yes
86
Support
Hannah Padilla et al. ()
Yes
DD
87
Support
Marlene Rong et al. (2024)
No
ASD
88
Support
Steven Laurie et al. (2025)
Yes
89
Support
Kate E McCluskey et al. (2025)
Yes
Gastrointestinal dysfunction
90
Support
Zhiwei Wang et al. (2025)
Yes
91
Support
Vittoria Greco et al. (2025)
Yes
ID
92
Support
Suzanne M Musgrave et al. (2024)
Yes
93
Support
Evgeny N Suspitsin et al. (2025)
Yes
DD
Rare Variants
(227)
Status
Allele Change
Residue Change
Variant Type
Inheritance Pattern
Parental Transmission
Family Type
PubMed ID
Author, Year
stop_gained
De novo
31993582
Singh N et al. (2020)
translocation
De novo
18386809
Kulkarni S et al. (2008)
copy_number_loss
De novo
24834135
Chnier S , et al. (2014)
copy_number_loss
De novo
25672921
Thomas RH et al. (2015)
copy_number_loss
De novo
34713950
De Maria B et al. (2021)
frameshift_variant
De novo
28554332
Bowling KM , et al. (2017)
p.Arg121Ter
stop_gained
De novo
25672921
Thomas RH et al. (2015)
p.Gln909Ter
stop_gained
De novo
25672921
Thomas RH et al. (2015)
copy_number_loss
De novo
Multiplex
24768552
Pinto D , et al. (2014)
copy_number_loss
De novo
Simplex
22178256
Capelli LP , et al. (2011)
c.670C>T
p.Arg224Ter
stop_gained
De novo
35386198
Luo X et al. (2022)
c.327C>G
p.Val109%3D
stop_gained
Unknown
33004838
Wang T et al. (2020)
c.934A>T
p.Lys312Ter
stop_gained
Unknown
33004838
Wang T et al. (2020)
c.988C>T
p.Gln330Ter
stop_gained
De novo
33004838
Wang T et al. (2020)
p.Leu823Pro
missense_variant
De novo
25672921
Thomas RH et al. (2015)
p.Trp548Arg
missense_variant
De novo
25672921
Thomas RH et al. (2015)
c.5035C>T
p.Arg1679Ter
stop_gained
De novo
35386198
Luo X et al. (2022)
c.1345A>T
p.Asn449Tyr
stop_gained
De novo
33004838
Wang T et al. (2020)
c.1239T>G
p.Tyr413Ter
stop_gained
De novo
35982159
Zhou X et al. (2022)
c.2692C>T
p.Gln898Ter
stop_gained
De novo
35982159
Zhou X et al. (2022)
c.443+4del
splice_region_variant
De novo
35982159
Zhou X et al. (2022)
c.1810-2A>C
splice_site_variant
De novo
24207121
Suls A , et al. (2013)
c.214G>T
p.Gly72Cys
missense_variant
Unknown
34968013
Li D et al. (2022)
c.5035C>T
p.Arg1679Ter
stop_gained
De novo
35982159
Zhou X et al. (2022)
c.1396C>T
p.Arg466Ter
stop_gained
De novo
24207121
Suls A , et al. (2013)
c.4971G>A
p.Trp1657Ter
stop_gained
De novo
24207121
Suls A , et al. (2013)
c.4489G>T
p.Glu1497Ter
stop_gained
Unknown
32593896
Mitta N et al. (2020)
c.595C>T
p.Arg199Cys
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.667C>T
p.Arg223Cys
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.667C>T
p.Arg223Cys
missense_variant
De novo
35982159
Zhou X et al. (2022)
c.3937C>T
p.Arg1313Ter
stop_gained
Unknown
34615535
Mahjani B et al. (2021)
p.Leu1591Terfs
frameshift_variant
De novo
25672921
Thomas RH et al. (2015)
c.361C>T
p.Arg121Ter
stop_gained
De novo
23708187
Carvill GL , et al. (2013)
copy_number_loss
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.4012A>C
p.Lys1338Gln
missense_variant
Unknown
35386198
Luo X et al. (2022)
c.1049A>C
p.Gln350Pro
missense_variant
De novo
33004838
Wang T et al. (2020)
c.1234G>A
p.Glu412Lys
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.2095C>T
p.Arg699Trp
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.2699G>A
p.Arg900Gln
missense_variant
De novo
33004838
Wang T et al. (2020)
c.2702C>G
p.Ala901Gly
missense_variant
De novo
33004838
Wang T et al. (2020)
c.2740C>T
p.Arg914Cys
missense_variant
De novo
33004838
Wang T et al. (2020)
c.1174A>G
p.Thr392Ala
missense_variant
De novo
35982159
Zhou X et al. (2022)
c.2096G>A
p.Arg699Gln
missense_variant
De novo
35982159
Zhou X et al. (2022)
c.2426G>A
p.Arg809Gln
missense_variant
De novo
35982159
Zhou X et al. (2022)
c.2672C>A
p.Pro891His
missense_variant
De novo
36881370
Yuan B et al. (2023)
c.4636G>T
p.Arg1546Ter
stop_gained
Unknown
34363551
Trakadis Y et al. (2021)
c.3029C>G
p.Ser1010Ter
stop_gained
Unknown
36475376
Shimelis H et al. (2023)
c.3346C>T
p.Arg1116Cys
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.4034G>A
p.Arg1345Gln
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.4483G>A
p.Val1495Met
missense_variant
De novo
33004838
Wang T et al. (2020)
c.4507C>T
p.Arg1503Trp
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.4516C>T
p.Leu1506%3D
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.4555G>A
p.Ala1519Thr
missense_variant
De novo
33004838
Wang T et al. (2020)
c.5071C>T
p.Pro1691Ser
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.5129G>A
p.Arg1710Gln
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.5362C>T
p.Arg1788Cys
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.5369C>A
p.Pro1790His
missense_variant
Unknown
33004838
Wang T et al. (2020)
c.4602G>T
p.Trp1534Cys
missense_variant
De novo
35982159
Zhou X et al. (2022)
c.522del
p.Val175Ter
frameshift_variant
Unknown
33004838
Wang T et al. (2020)
c.2506-2A>G
splice_site_variant
De novo
Simplex
30564305
Guo H , et al. (2018)
c.1053-1G>C
splice_site_variant
Unknown
Unknown
35266334
Wang Q et al. (2022)
c.1809+1G>T
splice_site_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.3595+1G>T
splice_site_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.1693A>G
p.Ile565Val
missense_variant
Unknown
35571021
Chuan Z et al. (2022)
c.4278+1del
frameshift_variant
De novo
Simplex
31677157
Chen J , et al. (2019)
c.*2273G>A
3_prime_UTR_variant
De novo
Simplex
27525107
Yuen RK et al. (2016)
c.3782G>A
p.Trp1261Ter
stop_gained
De novo
31452935
Feliciano P et al. (2019)
c.1390A>T
p.Arg464Ter
stop_gained
De novo
35979408
Stenshorne I et al. (2022)
c.1250G>A
p.Trp417Ter
stop_gained
De novo
Simplex
35774528
Feng W et al. (2022)
c.1417C>T
p.Gln473Ter
stop_gained
De novo
Simplex
35774528
Feng W et al. (2022)
c.5054G>A
p.Arg1685His
missense_variant
De novo
27824329
Wang T , et al. (2016)
c.3947A>G
p.Tyr1316Cys
missense_variant
De novo
30945278
Jiao Q , et al. (2019)
c.5120G>A
p.Arg1707Gln
missense_variant
De novo
31677157
Chen J , et al. (2019)
c.5053C>T
p.Arg1685Cys
missense_variant
Unknown
35571021
Chuan Z et al. (2022)
c.1809+1del
frameshift_variant
De novo
Simplex
23020937
Rauch A , et al. (2012)
p.Gly1575ValfsTer
frameshift_variant
De novo
25672921
Thomas RH et al. (2015)
c.4921C>T
p.Gln1641Ter
stop_gained
De novo
28191889
Stessman HA , et al. (2017)
c.3571C>T
p.Gln1191Ter
stop_gained
Unknown
39039281
Axel Schmidt et al. (2024)
c.3782G>A
p.Trp1261Ter
stop_gained
De novo
Simplex
35774528
Feng W et al. (2022)
c.4636C>T
p.Arg1546Ter
stop_gained
De novo
Simplex
35774528
Feng W et al. (2022)
c.3782G>A
p.Trp1261Ter
stop_gained
De novo
Simplex
35982159
Zhou X et al. (2022)
c.4921C>T
p.Gln1641Ter
stop_gained
De novo
Simplex
35982159
Zhou X et al. (2022)
c.2410C>T
p.Arg804Ter
stop_gained
De novo
Simplex
31677157
Chen J , et al. (2019)
c.1861C>T
p.Arg621Trp
missense_variant
De novo
31170314
Routier L et al. (2019)
p.Gly491ValfsTer13
frameshift_variant
De novo
25672921
Thomas RH et al. (2015)
c.693-1G>T
splice_site_variant
De novo
Simplex
29346770
Takata A , et al. (2018)
c.359C>T
p.Ser120Leu
missense_variant
Unknown
39342494
Hosneara Akter et al. ()
c.875C>T
p.Pro292Leu
missense_variant
Unknown
40642607
Zhiwei Wang et al. (2025)
c.4636C>T
p.Arg1546Ter
stop_gained
De novo
Simplex
31677157
Chen J , et al. (2019)
c.5007G>A
p.Trp1669Ter
stop_gained
De novo
Simplex
31677157
Chen J , et al. (2019)
p.Arg1644LysfsTer22
frameshift_variant
De novo
25672921
Thomas RH et al. (2015)
p.Glu1412GlyfsTer64
frameshift_variant
De novo
25672921
Thomas RH et al. (2015)
c.2636C>T
p.Ala879Val
missense_variant
De novo
39503459
Hannah Padilla et al. ()
c.693-1G>T
splice_site_variant
De novo
Simplex
31171384
Yamamoto T et al. (2019)
c.2716C>T
p.Gln906Ter
stop_gained
Unknown
Simplex
28263302
C Yuen RK et al. (2017)
c.2173C>T
p.Gln725Ter
stop_gained
De novo
Simplex
29346770
Takata A , et al. (2018)
c.5192T>G
p.Phe1731Cys
missense_variant
Unknown
39342494
Hosneara Akter et al. ()
c.335C>G
p.Ser112Ter
stop_gained
De novo
Simplex
25356899
Hamdan FF , et al. (2014)
c.2352+1G>A
splice_site_variant
De novo
Simplex
31406558
Munnich A , et al. (2019)
c.1642T>C
p.Trp548Arg
missense_variant
De novo
23708187
Carvill GL , et al. (2013)
c.2468T>C
p.Leu823Pro
missense_variant
De novo
23708187
Carvill GL , et al. (2013)
c.2663A>G
p.Asp888Gly
missense_variant
De novo
38256219
Luigi Vetri et al. (2024)
p.Gly491ValfsTer13
frameshift_variant
De novo
23708187
Carvill GL , et al. (2013)
c.3456-9C>G
intron_variant
Familial
Maternal
40731902
Vittoria Greco et al. (2025)
c.2727+46A>G
intron_variant
De novo
Simplex
31981491
Satterstrom FK et al. (2020)
copy_number_loss
Unknown
Simplex
38328757
Magdalena Badura-Stronka et al. (2024)
c.272A>G
p.Glu91Gly
missense_variant
De novo
Simplex
28714951
Lim ET , et al. (2017)
c.4003G>T
p.Glu1335Ter
stop_gained
De novo
Simplex
31914951
Poisson A et al. (2020)
c.1562C>A
p.Ser521Ter
stop_gained
De novo
Simplex
34713950
De Maria B et al. (2021)
c.2963C>G
p.Ser988Ter
stop_gained
De novo
Simplex
34713950
De Maria B et al. (2021)
c.2699G>A
p.Arg900Gln
missense_variant
De novo
27479843
Lelieveld SH et al. (2016)
c.2699G>A
p.Arg900Gln
missense_variant
De novo
28191889
Stessman HA , et al. (2017)
c.1809G>T
p.Lys603Asn
missense_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.1934C>T
p.Thr645Met
missense_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.2095C>T
p.Arg699Trp
missense_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.2291A>G
p.His764Arg
missense_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.2593C>T
p.Leu865Phe
missense_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.2005G>T
p.Glu669Ter
nonsynonymous_variant
De novo
29529558
Caputo D et al. (2018)
c.4909C>T
p.Arg1637Ter
stop_gained
De novo
Simplex
25363768
Iossifov I et al. (2014)
c.3931C>T
p.Gln1311Ter
stop_gained
De novo
Simplex
31171384
Yamamoto T et al. (2019)
c.3937C>T
p.Arg1313Ter
stop_gained
De novo
Simplex
34713950
De Maria B et al. (2021)
c.5035C>T
p.Arg1679Ter
stop_gained
De novo
Simplex
34713950
De Maria B et al. (2021)
c.2999G>A
p.Arg1000Gln
missense_variant
De novo
25363760
De Rubeis S , et al. (2014)
c.3521G>A
p.Gly1174Asp
missense_variant
De novo
25363760
De Rubeis S , et al. (2014)
c.3782G>C
p.Trp1261Ser
missense_variant
Unknown
39039281
Axel Schmidt et al. (2024)
c.2068C>T
p.His690Tyr
missense_variant
De novo
27848944
Trujillano D , et al. (2016)
c.2416dup
p.Arg806LysfsTer20
frameshift_variant
De novo
35386198
Luo X et al. (2022)
c.11_14del
p.Asn4ArgfsTer89
frameshift_variant
Unknown
33004838
Wang T et al. (2020)
c.3237G>T
p.Lys1079Asn
missense_variant
De novo
Simplex
30564305
Guo H , et al. (2018)
c.3781T>C
p.Trp1261Arg
missense_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.2537G>A
p.Arg846Gln
missense_variant
De novo
Simplex
31677157
Chen J , et al. (2019)
c.2609G>A
p.Gly870Asp
missense_variant
De novo
Simplex
31677157
Chen J , et al. (2019)
c.2644G>T
p.Val882Phe
missense_variant
De novo
Simplex
31677157
Chen J , et al. (2019)
c.2740C>T
p.Arg914Cys
missense_variant
De novo
Simplex
31677157
Chen J , et al. (2019)
c.4173dup
p.Gln1392ThrfsTer17
frameshift_variant
Unknown
34145886
Zou D et al. (2021)
c.4173dup
p.Gln1392ThrfsTer17
frameshift_variant
De novo
35386198
Luo X et al. (2022)
c.1265del
p.Tyr422PhefsTer40
frameshift_variant
Unknown
33004838
Wang T et al. (2020)
c.390C>T
p.Ser130%3D
splice_site_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.1566C>G
p.Phe522Leu
missense_variant
De novo
Simplex
31771860
Cappi C , et al. (2019)
c.727_728del
p.Asp243Ter
stop_gained
De novo
Simplex
34713950
De Maria B et al. (2021)
c.4033C>T
p.Arg1345Trp
missense_variant
Familial
Paternal
33004838
Wang T et al. (2020)
c.4173dup
p.Gln1392ThrfsTer17
frameshift_variant
De novo
24614520
Lund C et al. (2014)
c.3455+2_3455+3insTG
splice_site_variant
De novo
Simplex
35627293
Wang X et al. (2022)
c.3454C>G
p.Arg1152Gly
missense_variant
De novo
Simplex
33619735
Brunet T et al. (2021)
c.2567A>G
p.Asp856Gly
missense_variant
De novo
Simplex
22495311
Neale BM , et al. (2012)
c.2636C>T
p.Ala879Val
missense_variant
De novo
Unknown
31130284
Monies D , et al. (2019)
c.1809_1809+1delinsTT
splice_site_variant
De novo
Simplex
35627293
Wang X et al. (2022)
c.5153+2T>C
splice_site_variant
Familial
Paternal
Simplex
31677157
Chen J , et al. (2019)
c.2095C>T
p.Arg699Trp
missense_variant
De novo
Simplex
34713950
De Maria B et al. (2021)
c.2387T>C
p.Leu796Ser
missense_variant
De novo
Simplex
34713950
De Maria B et al. (2021)
c.2698C>G
p.Arg900Gly
missense_variant
De novo
Simplex
34713950
De Maria B et al. (2021)
c.4921C>T
p.Gln1641Ter
stop_gained
De novo
Simplex
31981491
Satterstrom FK et al. (2020)
c.3783G>A
p.Trp1261Ter
stop_gained
Familial
Maternal
Simplex
35627293
Wang X et al. (2022)
c.3455+2_345+3insTG
p.?
splice_site_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.3787dup
p.Val1263GlyfsTer4
frameshift_variant
Unknown
31273778
Borlot F , et al. (2019)
c.3782G>C
p.Trp1261Ser
missense_variant
De novo
Simplex
34713950
De Maria B et al. (2021)
c.4528G>A
p.Gly1510Arg
missense_variant
De novo
Simplex
34713950
De Maria B et al. (2021)
c.1566C>G
p.Phe522Leu
missense_variant
De novo
Simplex
28472652
Willsey AJ , et al. (2017)
c.4688A>G
p.Glu1563Gly
missense_variant
Unknown
41255692
Evgeny N Suspitsin et al. (2025)
c.1503G>A
p.Lys501=
splice_site_variant
De novo
23934111
Epi4K Consortium , et al. (2013)
c.1730_1731dup
p.Glu578MetfsTer11
frameshift_variant
De novo
35386198
Luo X et al. (2022)
c.2843G>A
p.Arg948Gln
missense_variant
Familial
Both parents
33004838
Wang T et al. (2020)
c.4216A>G
p.Ser1406Gly
missense_variant
De novo
Multiplex
28263302
C Yuen RK et al. (2017)
c.4987dup
p.His1663ProfsTer4
frameshift_variant
Unknown
34713950
De Maria B et al. (2021)
c.1570dup
p.Ser524PhefsTer30
frameshift_variant
De novo
37877434
Atefeh Mir et al. (2024)
c.947dup
p.Tyr316Ter
stop_gained
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.3682del
p.Glu1228SerfsTer21
frameshift_variant
Unknown
36475376
Shimelis H et al. (2023)
c.3734delA
p.Lys1245AsnfsTer4
frameshift_variant
De novo
39503459
Hannah Padilla et al. ()
c.3787dup
p.Val1263GlyfsTer4
frameshift_variant
De novo
28554332
Bowling KM , et al. (2017)
c.4459G>A
p.Asp1487Asn
missense_variant
De novo
Simplex
28191889
Stessman HA , et al. (2017)
c.2699G>A
p.Arg900Gln
missense_variant
Unknown
Simplex
39825153
Steven Laurie et al. (2025)
c.3734del
p.Lys1245AsnfsTer4
frameshift_variant
De novo
39334436
Soo-Whee Kim et al. (2024)
c.3323_3324del
p.Ser1108Ter
stop_gained
De novo
Simplex
40731902
Vittoria Greco et al. (2025)
c.4003G>T
p.Glu1335Ter
stop_gained
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.1778dup
p.Thr594AsnfsTer4
frameshift_variant
Unknown
Simplex
31677157
Chen J , et al. (2019)
c.628G>T
p.Glu210Ter
stop_gained
Familial
Maternal
Simplex
29740950
Petersen AK , et al. (2018)
c.4459G>A
p.Asp1487Asn
missense_variant
De novo
Simplex
31981491
Satterstrom FK et al. (2020)
c.3734dup
p.Tyr1246IlefsTer13
frameshift_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.4164dup
p.Lys1389GlufsTer20
frameshift_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.1820G>A
p.Gly607Asp
missense_variant
Familial
Paternal
Simplex
37543562
Sheth F et al. (2023)
c.3734dup
p.Tyr1246IlefsTer13
frameshift_variant
De novo
Simplex
31677157
Chen J , et al. (2019)
c.4173dup
p.Gln1392ThrfsTer17
frameshift_variant
De novo
Simplex
31677157
Chen J , et al. (2019)
c.3998dup
p.Gly1334TrpfsTer29
frameshift_variant
Familial
Maternal
33004838
Wang T et al. (2020)
c.937_938del
p.Gly313LeufsTer11
frameshift_variant
De novo
Simplex
35982159
Zhou X et al. (2022)
c.4036G>C
p.Val1346Leu
missense_variant
Familial
Paternal
Multiplex
35774528
Feng W et al. (2022)
c.3896delTinsCG
p.Val1299AlafsTer5
frameshift_variant
De novo
39503459
Hannah Padilla et al. ()
c.1903_1906del
p.Asp635SerfsTer8
frameshift_variant
De novo
27479843
Lelieveld SH et al. (2016)
c.2660_2661del
p.Ser887Ter
stop_gained
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.1540G>C
p.Gly514Arg
missense_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.1934C>A
p.Thr645Lys
missense_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.2612G>A
p.Gly871Asp
missense_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.2707A>G
p.Arg903Gly
missense_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.4233_4236del
p.Glu1412GlyfsTer64
frameshift_variant
De novo
23708187
Carvill GL , et al. (2013)
c.4931_4932del
p.Arg1644LysfsTer22
frameshift_variant
De novo
23708187
Carvill GL , et al. (2013)
c.580C>T
p.Gln194Ter
stop_gained
Familial
Maternal
Multiplex
38385826
Francesca Cogliati et al. ()
c.3787dup
p.Val1263GlyfsTer4
frameshift_variant
De novo
38321498
Marketa Wayhelova et al. (2024)
c.3112C>T
p.Arg1038Cys
missense_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.3497C>T
p.Ser1166Leu
missense_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.1961_1962del
p.Lys654ArgfsTer15
frameshift_variant
De novo
Simplex
35774528
Feng W et al. (2022)
c.2892_2895del
p.Asn964LysfsTer4
frameshift_variant
De novo
Simplex
25284784
Dong S , et al. (2014)
c.4949dup
p.Gly1651TrpfsTer16
frameshift_variant
De novo
Simplex
25363768
Iossifov I et al. (2014)
c.4164del
p.Met1388IlefsTer18
frameshift_variant
De novo
Simplex
28910737
Bernardo P et al. (2017)
c.4173del
p.Lys1391AsnfsTer15
frameshift_variant
De novo
Simplex
34713950
De Maria B et al. (2021)
c.4814A>C
p.Lys1605Thr
missense_variant
Familial
Maternal
41255692
Evgeny N Suspitsin et al. (2025)
c.995_999del
p.Val332GlyfsTer25
frameshift_variant
Unknown
Simplex
32094338
Husson T , et al. (2020)
c.4256del
p.Lys1419SerfsTer58
frameshift_variant
De novo
Simplex
26262932
Trivisano M et al. (2015)
c.630_632del
p.Glu210del
inframe_deletion
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.767del
p.Gln256ArgfsTer12
frameshift_variant
De novo
35322241
Brea-Fernández AJ et al. (2022)
c.4052_4053del
p.Lys1351SerfsTer11
frameshift_variant
De novo
Simplex
31677157
Chen J , et al. (2019)
c.1994C>T
p.Pro665Leu
missense_variant
Unknown
38003033
Ana Karen Sandoval-Talamantes et al. (2023)
c.561del
p.Lys188AsnfsTer61
frameshift_variant
Unknown
Not maternal
34713950
De Maria B et al. (2021)
c.4771_4772del
p.Leu1591AspfsTer32
frameshift_variant
De novo
Simplex
34713950
De Maria B et al. (2021)
c.2423_2424insAT
p.Asn808LysfsTer11
frameshift_variant
De novo
40756852
Suzanne M Musgrave et al. (2024)
c.1008_1009delinsT
p.Lys336AsnfsTer3
frameshift_variant
De novo
Simplex
34713950
De Maria B et al. (2021)
c.1199del
p.Ala400ValfsTer62
frameshift_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.5232G>A
p.Met1744Ile
missense_variant
Familial
Paternal
Multi-generational
31677157
Chen J , et al. (2019)
c.4156dup
p.Ser1386LysfsTer23
frameshift_variant
De novo
Multi-generational
31677157
Chen J , et al. (2019)
c.4173dup
p.Gln1392ThrfsTer17
frameshift_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.5041dup
p.Met1681AsnfsTer21
frameshift_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.390C>T
p.Ser130=
splice_site_variant
De novo
Simplex
25262651
EuroEPINOMICS-RES Consortium , et al. (2014)
c.1934C>T
p.Thr645Met
missense_variant
De novo (germline mosaicism)
Multiplex
28960266
Lebrun N , et al. (2017)
c.4937_4940dup
p.Tyr1648GlnfsTer20
frameshift_variant
De novo
Simplex
39035822
Angela Clara-Hwang et al. (2024)
c.5094dup
p.Pro1699AlafsTer3
frameshift_variant
Unknown
Not maternal
27615324
Gauthier-Vasserot A et al. (2017)
c.1942C>T
p.Pro648Ser
missense_variant
De novo
Simplex
25533962
Deciphering Developmental Disorders Study (2014)
c.5035C>T
p.Arg1679Ter
stop_gained
Familial
Maternal
Multi-generational
38125503
Eleni Angelopoulou et al. (2023)
c.4173dup
p.Gln1392ThrfsTer17
frameshift_variant
De novo
Multiplex (monozygotic twins)
26754451
Pinto AM et al. (2016)
c.4797_4812del
p.His1599GlnfsTer210
frameshift_variant
De novo
Simplex
25533962
Deciphering Developmental Disorders Study (2014)
Common Variants
No common variants reported.
Current Score
Scoring History
3rd Party Scoring
SFARI Gene score
1S
High Confidence, Syndromic
Score Delta: Score remained at
1S
criteria met
See SFARI Gene'scoring criteria
High Confidence
See all Category 1 Genes
We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
Syndromic
See all Category S Genes
The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."
1/1/2021
Score remained at
Description
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
Reports Added
[Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis2008]
[CHD2 mutations in Lennox-Gastaut syndrome2014]
[CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures2015]
[CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures2015]
[Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation2016]
[Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability2017]
[CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation2017]
[CHD2-epilepsy: Polygraphic documentation of self-induced seizures due to fixation-off sensitivity2018]
[Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?2019]
[Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders2019]
[Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report2020]
[Juvenile myoclonic epilepsy mimic associated with CHD2 gene mutation2020]
[Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience2020]
[De novo variants in neurodevelopmental disorders-experiences from a tertiary care center2021]
10/1/2020
Score remained at
Description
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
Reports Added
[Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020]
1/1/2020
Score remained at
Description
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
Reports Added
[Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.2015]
[De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.2019]
[Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism2020]
[Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.2020]
10/1/2019
1S
Score remained at
New Scoring Scheme
Description
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
Reports Added
[Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes2019]
[CHD2-related epilepsy: novel mutations and new phenotypes.2019]
[New Scoring Scheme]
7/1/2019
1S
1S
Score remained at
1S
Description
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
Reports Added
[Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.2019]
[Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.2019]
[Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.2019]
4/1/2019
1S
1S
Score remained at
1S
Description
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
Reports Added
[The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.2019]
1/1/2019
1S
1S
Score remained at
1S
Description
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
Reports Added
[Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.2018]
10/1/2018
1S
1S
Score remained at
1S
Description
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
Reports Added
[Autism-linked CHD gene expression patterns during development predict multi-organ disease phenotypes.2018]
[Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.2018]
7/1/2018
2S
1S
Decreased from
2S
to
1S
Description
Three de novo loss-of-function (LoF) variants in the CHD2 gene were identified in ASD probands from the Simons Simplex Collection (Dong et al., 2014; Iossifov et al., 2014). De novo LoF and missense variants in CHD2 have also been identified in ASD probands from the Autism Sequencing Consortium, the Autism Clinical and Genetic Resources in China (ACGC) cohort, the Autism Genetic Resource Exchange, and the Autism Simplex Collection (De Rubeis et al., 2014; Wang et al., 2016; Stessman et al., 2017).Two additional de novo LoF variants in CHD2 were recently identified in ASD probands from a cohort of 262 Japanese trios in Takata et al., 2018; TADA-Denovo analysis demonstrated that this gene was significantly enriched for damaging de novo mutations in the Japanese ASD cohort, as well as in a combined dataset consisting of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium in addition to the Japanese ASD cohort. De novo loss-of-function and missense variants in the CHD2 gene had previously been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (Rauch et al., 2012; Carvill et al., 2013; Epi4K Consortium 2013; Suls et al., 2013); two cases with de novo LoF CHD2 variants from these reports also presented with ASD. De novo deletions affecting CHD2 had also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (Chenier et al., 2014).
10/1/2017
2S
2S
Decreased from
2S
to
2S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135). Two additional de novo LoF variants in the CHD2 gene (one nonsense, one frameshift) were recently identified in ASD probands from the Simons Simplex Collection (PMID 25363768).
Reports Added
[Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.2017]
7/1/2017
2S
2S
Decreased from
2S
to
2S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135). Two additional de novo LoF variants in the CHD2 gene (one nonsense, one frameshift) were recently identified in ASD probands from the Simons Simplex Collection (PMID 25363768).
Reports Added
[Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.2017]
4/1/2017
2S
2S
Decreased from
2S
to
2S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135). Two additional de novo LoF variants in the CHD2 gene (one nonsense, one frameshift) were recently identified in ASD probands from the Simons Simplex Collection (PMID 25363768).
Reports Added
[Patterns and rates of exonic de novo mutations in autism spectrum disorders.2012]
[Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.2014]
[The contribution of de novo coding mutations to autism spectrum disorder2014]
[CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.2014]
[Large-scale discovery of novel genetic causes of developmental disorders.2014]
[Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.2011]
[Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.2013]
[De novo mutations in epileptic encephalopathies.2013]
[De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.2013]
[Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.2012]
[De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.2014]
[Low load for disruptive mutations in autism genes and their biased transmission.2015]
[Synaptic, transcriptional and chromatin genes disrupted in autism.2014]
[Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability2016]
[Genome-wide characteristics of de novo mutations in autism2016]
[De novo genic mutations among a Chinese autism spectrum disorder cohort.2016]
[Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016]
[Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.2017]
[Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder2017]
[De novo mutations in moderate or severe intellectual disability.2014]
[De Novo Coding Variants Are Strongly Associated with Tourette Disorder.2017]
[Genomic diagnosis for children with intellectual disability and/or developmental delay.2017]
1/1/2017
2S
2S
Decreased from
2S
to
2S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135). Two additional de novo LoF variants in the CHD2 gene (one nonsense, one frameshift) were recently identified in ASD probands from the Simons Simplex Collection (PMID 25363768).
Reports Added
[Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.2017]
10/1/2016
2S
2S
Decreased from
2S
to
2S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135). Two additional de novo LoF variants in the CHD2 gene (one nonsense, one frameshift) were recently identified in ASD probands from the Simons Simplex Collection (PMID 25363768).
Reports Added
[De novo genic mutations among a Chinese autism spectrum disorder cohort.2016]
[Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016]
7/1/2016
2S
2S
Decreased from
2S
to
2S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135). Two additional de novo LoF variants in the CHD2 gene (one nonsense, one frameshift) were recently identified in ASD probands from the Simons Simplex Collection (PMID 25363768).
Reports Added
[Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability2016]
[Genome-wide characteristics of de novo mutations in autism2016]
1/1/2016
2S
2S
Decreased from
2S
to
2S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135). Two additional de novo LoF variants in the CHD2 gene (one nonsense, one frameshift) were recently identified in ASD probands from the Simons Simplex Collection (PMID 25363768).
Reports Added
[Patterns and rates of exonic de novo mutations in autism spectrum disorders.2012]
[Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.2014]
[The contribution of de novo coding mutations to autism spectrum disorder2014]
[CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.2014]
[Large-scale discovery of novel genetic causes of developmental disorders.2014]
[Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.2011]
[Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.2013]
[De novo mutations in epileptic encephalopathies.2013]
[De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.2013]
[Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.2012]
[De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.2014]
[Low load for disruptive mutations in autism genes and their biased transmission.2015]
[Synaptic, transcriptional and chromatin genes disrupted in autism.2014]
1/1/2015
2S
2S
Decreased from
2S
to
2S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135). Two additional de novo LoF variants in the CHD2 gene (one nonsense, one frameshift) were recently identified in ASD probands from the Simons Simplex Collection (PMID 25363768).
Reports Added
[Large-scale discovery of novel genetic causes of developmental disorders.2014]
10/1/2014
3S
2S
Decreased from
3S
to
2S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135). Two additional de novo LoF variants in the CHD2 gene (one nonsense, one frameshift) were recently identified in ASD probands from the Simons Simplex Collection (PMID 25363768).
Reports Added
[De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.2014]
[The contribution of de novo coding mutations to autism spectrum disorder2014]
7/1/2014
No data
3S
Increased from
No data
to
3S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135)
4/1/2014
No data
3S
Increased from
No data
to
3S
Description
De novo loss-of-function and missense variants in the CHD2 gene have been identified in a total of 11 patients presenting with epilepsy and developmental delay/intellectual disability from four reports (PMIDs 23020937, 23708187, 23934111, and 24207121). Two cases with de novo LoF CHD2 variants also presented with ASD (PMIDs 23708187 and 24207121). De novo deletions affecting CHD2 have also been identified in 4 patients with recurrent clinical symptoms such as epilepsy, developmental delay/intellectual disability, and behavioral problem, including ASD in one case (PMID 24834135)
Reports Added
[CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.2014]
[Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.2014]
Krishnan Probability Score
Score
0.47577089053778
Ranking
8536/25841
scored genes
[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning
approach on a human brain-specific gene network. The method was first presented in Nat
Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed
in column G of supplementary table 3 (see:
with the ability to view networks of associated ASD risk genes, can be found at
asd.princeton.edu.
Original Source
ExAC Score
Score
0.99999999884542
Ranking
100/18225
scored genes
[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has
been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by
Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at
exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of-
function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of-
function mutations in autism in such a gene would be more likely to confer risk. For a full list of
pLI scores see:
ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle
aned_exac_nonTCGA_z_pli_rec_null_data.txt
Original Source
Iossifov Probability Score
Score
0.997
Ranking
12/239
scored genes
[Show Scoring Methodology]
Supplementary dataset S2 in the paper by Iossifov et al. (PNAS 112, E5600-E5607 (2015)) lists
239 genes with a probability of at least 0.8 of being associated with autism risk (column I). This
probability metric combines the evidence from de novo likely-gene- disrupting and missense
mutations and assesses it against the background mutation rate in unaffected individuals from the
University of Washington’s Exome Variant Sequence database (evs.gs.washington.edu/EVS/).
The list of probability scores can be found here:
www.pnas.org/lookup/suppl/doi:10.1073/pnas.1516376112/-
/DCSupplemental/pnas.1516376112.sd02.xlsx
Original Source
Sanders TADA Score
Score
6.7367674090958E-6
Ranking
7/18665
scored genes
[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013),
and is a statistic that integrates evidence from both de novo and transmitted mutations.
It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233
(2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper
(the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
Larsen Cumulative Evidence Score
Score
63
Ranking
24/461
scored genes
[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available
ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size,
and variant frequency in the general population. The approach was first presented in Mol Autism
7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from
that paper.
Original Source
Zhang D Score
Score
0.57451349814661
Ranking
156/20870
scored genes
[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures),
or D score, was developed to combine evidence from de novo loss-of- function mutation with
evidence from cell-type- specific gene expression in the mouse brain (specifically translational
profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with
positive D scores are more likely to be associated with autism risk, with higher-confidence genes
having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204-
215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in
supplementary table 2 from that paper.
Original Source
External PIN Data
BioGRID
Human Protein Reference Database
Interactome
Protein Binding
DNA Binding
RNA Binding
Protein Modification
Direct Regulation
ASD-Linked Genes
Interaction Table
Interactor Symbol
Interactor Name
Interactor Organism
Interactor Type
Entrez ID
Uniprot ID
ADARB2
adenosine deaminase, RNA-specific, B2
Human
Protein Binding
105
Q9NS39
ARID5B
AT rich interactive domain 5B (MRF1-like)
Human
Protein Binding
84159
Q14865
BCKDK
branched chain ketoacid dehydrogenase kinase
Human
Protein Binding
10295
A8MY43
BEND7
BEN domain containing 7
Human
Protein Binding
222389
Q8N7W2
CENPV
centromere protein V
Human
Protein Binding
201161
Q7Z7K6
FAM120C
family with sequence similarity 120C
Human
Protein Binding
54954
Q9NX05
INO80B
INO80 complex subunit B
Human
Protein Binding
83444
Q9C086
Myl3
myosin, light chain 3, alkali; ventricular, skeletal, slow
Mouse
Direct Regulation
17897
P09542
Myod1
myogenic differentiation 1
Mouse
Protein Binding
17927
P10085
Myog
myogenin (myogenic factor 4)
Mouse
Direct Regulation
17928
P12979
PARP1
poly (ADP-ribose) polymerase 1
Human
Protein Binding
142
P09874
RBAK
RB-associated KRAB zinc finger
Human
Protein Binding
57786
Q9NYW8
RREB1
ras responsive element binding protein 1
Human
Protein Binding
6239
Q92766
SPATA12
spermatogenesis associated 12
Human
Protein Binding
353324
Q7Z6I5
THAP1
THAP domain containing, apoptosis associated protein 1
Human
Protein Binding
NM_018105
Q9NVV9
WDR33
WD repeat domain 33
Human
Protein Binding
55339
Q9C0J8
ZC3HAV1
zinc finger CCCH-type, antiviral 1
Human
Protein Binding
56829
Q7Z2W4
ZMYND11
zinc finger, MYND-type containing 11
Human
Protein Binding
10771
Q5BJG6
ZNF174
zinc finger protein 174
Human
Protein Binding
7727
Q15697
ZNF317
zinc finger protein 317
Human
Protein Binding
57693
Q96PQ6
ZNF462
zinc finger protein 462
Human
Protein Binding
58499
Q96JM2
ZNF592
zinc finger protein 592
Human
Protein Binding
9640
Q92610
ZNF687
zinc finger protein 687
Human
Protein Binding
57592
Q8N1G0
ZNF768
zinc finger protein 768
Human
Protein Binding
79724
Q9H5H4
ZSCAN12
zinc finger and SCAN domain containing 12
Human
Protein Binding
9753
O43309
We care about your data, and we'd like to use cookies to give you a smooth browsing experience. Please agree and read more about our
privacy policy.
AGREE