Human Gene Module / Chromosome 22 / EP300

EP300E1A binding protein p300

SFARI Gene Score
1S
High Confidence, Syndromic Criteria 1.1, Syndromic
Autism Reports / Total Reports
8 / 28
Rare Variants / Common Variants
58 / 0
EAGLE Score
23.6
Strong Learn More
Aliases
EP300, RP1-85F18.1,  KAT3B,  RSTS2,  p300
Associated Syndromes
Rubinstein-Taybi syndrome-2
Chromosome Band
22q13.2
Associated Disorders
DD/NDD, ID, ASD
Genetic Category
Rare Single Gene Mutation, Syndromic
Relevance to Autism

Heterozygous variants in the EP300 gene are responsible for Rubinstein-Taybi syndrome 2 (OMIM 613684), a multiple congenital anomaly syndrome characterized by intellectual disability, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features (Roelfsema et al., 2005; Zimmermann et al., 2007; Foley et al., 2009). A patient with a de novo EP300 frameshift variant and a clinical diagnosis of Rubinstein-Taybi syndrome 2 also presented with autism (Wincent et al., 2015). A report describing nine new cases with Rubinstein-Taybi syndrome type 2 identified three cases with a diagnosis of autism spectrum disorder (Hamilton et al., 2016). Phenotypic characterization of 52 patients with Rubinstein-Taybi syndrome 2, 42 of whom were previously unpublished, found that 12 out of 49 cases (25%) presented with autism or autistic behavior (Fergelot et al., 2016). A de novo frameshift variant in EP300 and a de novo damaging missense variant in EP300 were identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection, respectively (De Rubeis et al., 2014; Iossifov et al., 2014). Additional de novo loss-of-function and missense variants in the EP300 gene were reported in ASD probands from the Autism Sequencing Consortium, the MSSNG cohort, and the SPARK cohort in Zhou et al., 2022; 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 the same report identified EP300 as a gene reaching exome-wide significance (P < 2.5E-06).De novo loss-of-function variants in EP300 have also been identified in individuals from the Deciphering Developmental Disorders study (Fitzgerald et al., 2015).

Molecular Function

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as a histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to EP300 (28 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease Roelfsema JH , et al. (2005) No -
2 Support Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome Zimmermann N , et al. (2007) No -
3 Support Further case of Rubinstein-Taybi syndrome due to a deletion in EP300 Foley P , et al. (2009) No -
4 Primary Rare deletions at the neurexin 3 locus in autism spectrum disorder Vaags AK , et al. (2012) Yes -
5 Support Synaptic, transcriptional and chromatin genes disrupted in autism De Rubeis S , et al. (2014) Yes -
6 Support The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
7 Support Large-scale discovery of novel genetic causes of developmental disorders Deciphering Developmental Disorders Study (2014) No Microcephaly, growth retardation
8 Recent Recommendation Low load for disruptive mutations in autism genes and their biased transmission Iossifov I , et al. (2015) Yes -
9 Support CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome Wincent J , et al. (2016) No ID, ASD
10 Support Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern Fieremans N , et al. (2016) No -
11 Recent Recommendation Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum Hamilton MJ , et al. (2016) No ID, ASD
12 Support Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability Lelieveld SH et al. (2016) No -
13 Support Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations Fergelot P , et al. (2016) No -
14 Support Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands Jin SC , et al. (2017) No Neurodevelopmental disorders (NDD)
15 Support Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome Menke LA , et al. (2018) No DD, ID, ASD
16 Support Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum Lpez M , et al. (2018) No -
17 Support Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants Lecoquierre F , et al. (2019) No -
18 Support - Hiraide T et al. (2021) No -
19 Support - Woodbury-Smith M et al. (2022) Yes -
20 Support - Brea-Fernández AJ et al. (2022) No -
21 Recent Recommendation - Zhou X et al. (2022) Yes -
22 Support - Bai Z et al. (2023) No -
23 Support - Miyake N et al. (2023) Yes -
24 Support - Spataro N et al. (2023) No ADHD, learning disability, autistic features, ster
25 Support - Zhang Y et al. (2023) Yes DD, ID
26 Support - Amerh S Alqahtani et al. (2023) No -
27 Support - Alistair T Pagnamenta et al. (2024) No -
28 Support - Axel Schmidt et al. (2024) No -
Rare Variants   (58)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss Unknown - - 29506490 Lpez M , et al. (2018)
c.3728+5G>C - splice_site_variant De novo - - 29506490 Lpez M , et al. (2018)
- - inversion De novo - Simplex 38776926 Alistair T Pagnamenta et al. (2024)
c.5743C>T p.Gln1915Ter stop_gained De novo - - 35982159 Zhou X et al. (2022)
c.3163C>T p.Arg1055Ter stop_gained Unknown - - 29506490 Lpez M , et al. (2018)
c.4242T>G p.Tyr1414Ter stop_gained De novo - - 37035742 Zhang Y et al. (2023)
c.658A>T p.Thr220Ser missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.4172+2dup - frameshift_variant De novo - - 25363760 De Rubeis S , et al. (2014)
c.1790C>G p.Pro597Arg missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.1949C>G p.Thr650Ser missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.3199C>T p.Arg1067Cys missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.4412T>G p.Leu1471Arg missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.5813C>T p.Thr1938Met missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.6552A>C p.Arg2184Ser missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.1833T>G p.Tyr611Ter stop_gained De novo - - 27465822 Hamilton MJ , et al. (2016)
c.1876C>T p.Arg626Ter stop_gained De novo - - 27479843 Lelieveld SH et al. (2016)
c.1443G>A p.Pro481%3D synonymous_variant De novo - - 35982159 Zhou X et al. (2022)
c.4511T>G p.Phe1504Cys missense_variant De novo - - 29506490 Lpez M , et al. (2018)
c.4066C>T p.Arg1356Ter stop_gained De novo - - 27465822 Hamilton MJ , et al. (2016)
c.3857A>G p.Asn1286Ser missense_variant De novo - - 27465822 Hamilton MJ , et al. (2016)
c.4783T>G p.Phe1595Val missense_variant De novo - - 27465822 Hamilton MJ , et al. (2016)
c.5471A>C p.Gln1824Pro missense_variant De novo - - 27465822 Hamilton MJ , et al. (2016)
c.7111T>A p.Ser2371Thr missense_variant De novo - - 39039281 Axel Schmidt et al. (2024)
c.7168G>A p.Ala2390Thr missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.607C>T p.Gln203Ter stop_gained De novo - - 35322241 Brea-Fernández AJ et al. (2022)
c.5492_5494del p.Arg1831del inframe_deletion De novo - - 29460469 Menke LA , et al. (2018)
c.5636del p.Pro1879LeufsTer27 frameshift_variant De novo - - 35982159 Zhou X et al. (2022)
c.6175del p.Arg2059GlyfsTer75 frameshift_variant De novo - - 35982159 Zhou X et al. (2022)
c.3912del p.Arg1305ValfsTer2 frameshift_variant De novo - - 28991257 Jin SC , et al. (2017)
c.70_71del p.Ser24GlyfsTer14 frameshift_variant De novo - - 29506490 Lpez M , et al. (2018)
c.4783T>G p.Phe1595Val missense_variant De novo - Simplex 36973392 Miyake N et al. (2023)
c.3857A>G p.Asn1286Ser missense_variant De novo - Simplex 33644862 Hiraide T et al. (2021)
c.4879C>T p.Arg1627Trp missense_variant De novo - Simplex 25363768 Iossifov I et al. (2014)
c.2367T>C p.Ala789%3D synonymous_variant Unknown - - 35205252 Woodbury-Smith M et al. (2022)
c.3358_3360del p.Asp1120del inframe_deletion De novo - Simplex 35982159 Zhou X et al. (2022)
c.6245del p.Gln2082ArgfsTer26 frameshift_variant De novo - - 36980980 Spataro N et al. (2023)
c.2421dup p.Pro808AlafsTer4 frameshift_variant De novo - Simplex 36797748 Bai Z et al. (2023)
c.108_111del p.Phe37ThrfsTer10 frameshift_variant De novo - - 36980980 Spataro N et al. (2023)
c.3661del p.Gln1221SerfsTer6 frameshift_variant De novo - - 27465822 Hamilton MJ , et al. (2016)
c.5873del p.Pro1958ArgfsTer2 frameshift_variant De novo - - 27465822 Hamilton MJ , et al. (2016)
c.3905dup p.Glu1303ArgfsTer6 frameshift_variant Unknown - - 39039281 Axel Schmidt et al. (2024)
c.4954_4957dup p.Cys1653TyrfsTer21 frameshift_variant De novo - - 29506490 Lpez M , et al. (2018)
c.104_107del p.Ser35TyrfsTer12 frameshift_variant De novo - - 27465822 Hamilton MJ , et al. (2016)
c.631G>A p.Gly211Ser missense_variant Familial Paternal Simplex 22209245 Vaags AK , et al. (2012)
c.4705_4706del p.Phe1569LeufsTer19 frameshift_variant De novo - - 26788536 Wincent J , et al. (2016)
c.6574_6585del p.Gln2192_Gln2195del inframe_deletion Unknown - - 27159028 Fieremans N , et al. (2016)
c.1269_1273del p.Arg424SerfsTer16 frameshift_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.6627_6638del p.Asn2209_Gln2213delinsLys inframe_deletion De novo - - 29506490 Lpez M , et al. (2018)
c.3671+5G>A - splice_site_variant De novo - - 25533962 Deciphering Developmental Disorders Study (2014)
TCAGAGAGCAGC>TC - frameshift_variant De novo - - 25533962 Deciphering Developmental Disorders Study (2014)
c.659_662del p.Thr220SerfsTer16 frameshift_variant De novo - Simplex 27465822 Hamilton MJ , et al. (2016)
c.4783T>G p.Phe1595Val missense_variant Familial Paternal Simplex 31036916 Lecoquierre F , et al. (2019)
c.5581C>T p.Gln1861Ter stop_gained De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.5824A>T p.Met1942Leu missense_variant Familial Paternal Multi-generational 26788536 Wincent J , et al. (2016)
c.3139_3140del p.Lys1047AspfsTer41 frameshift_variant Unknown - Multiplex 37799141 Amerh S Alqahtani et al. (2023)
c.7222_7223del p.Gln2408GlufsTer39 frameshift_variant Familial Maternal Multi-generational 29506490 Lpez M , et al. (2018)
c.3661del p.Gln1221SerfsTer6 frameshift_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.4912dup p.His1638ProfsTer35 frameshift_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
Common Variants  

No common variants reported.

SFARI Gene score
1S

High Confidence, Syndromic

Score Delta: Score remained at 1S

criteria met
See SFARI Gene'scoring criteria
1

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.

S

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
1
icon
1

Score remained at 1

Description

Heterozygous variants in the EP300 gene are responsible for Rubinstein-Taybi syndrome 2 (OMIM 613684), a multiple congenital anomaly syndrome characterized by intellectual disability, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features (Roelfsema et al., 2005; Zimmermann et al., 2007; Foley et al., 2009). A patient with a de novo EP300 frameshift variant and a clinical diagnosis of Rubinstein-Taybi syndrome 2 also presented with autism (Wincent et al., 2015). A report describing nine new cases with Rubinstein-Taybi syndrome type 2 identified three cases with a diagnosis of autism spectrum disorder (Hamilton et al., 2016). Phenotypic characterization of 52 patients with Rubinstein-Taybi syndrome 2, 42 of whom were previously unpublished, found that 12 out of 49 cases (25%) presented with autism or autistic behavior (Fergelot et al., 2016). A de novo frameshift variant in EP300 and a de novo damaging missense variant in EP300 were identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection, respectively (De Rubeis et al., 2014; Iossifov et al., 2014). De novo loss-of-function variants in EP300 have also been identified in individuals from the Deciphering Developmental Disorders study (Fitzgerald et al., 2015).

Reports Added
[Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing2021]
10/1/2019
4S
icon
1

Decreased from 4S to 1

New Scoring Scheme
Description

Heterozygous variants in the EP300 gene are responsible for Rubinstein-Taybi syndrome 2 (OMIM 613684), a multiple congenital anomaly syndrome characterized by intellectual disability, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features (Roelfsema et al., 2005; Zimmermann et al., 2007; Foley et al., 2009). A patient with a de novo EP300 frameshift variant and a clinical diagnosis of Rubinstein-Taybi syndrome 2 also presented with autism (Wincent et al., 2015). A report describing nine new cases with Rubinstein-Taybi syndrome type 2 identified three cases with a diagnosis of autism spectrum disorder (Hamilton et al., 2016). Phenotypic characterization of 52 patients with Rubinstein-Taybi syndrome 2, 42 of whom were previously unpublished, found that 12 out of 49 cases (25%) presented with autism or autistic behavior (Fergelot et al., 2016). A de novo frameshift variant in EP300 and a de novo damaging missense variant in EP300 were identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection, respectively (De Rubeis et al., 2014; Iossifov et al., 2014). De novo loss-of-function variants in EP300 have also been identified in individuals from the Deciphering Developmental Disorders study (Fitzgerald et al., 2015).

Reports Added
[New Scoring Scheme]
7/1/2019
4S
icon
4S

Decreased from 4S to 4S

Description

Heterozygous variants in the EP300 gene are responsible for Rubinstein-Taybi syndrome 2 (OMIM 613684), a multiple congenital anomaly syndrome characterized by intellectual disability, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features (Roelfsema et al., 2005; Zimmermann et al., 2007; Foley et al., 2009). A patient with a de novo EP300 frameshift variant and a clinical diagnosis of Rubinstein-Taybi syndrome 2 also presented with autism (Wincent et al., 2015). A report describing nine new cases with Rubinstein-Taybi syndrome type 2 identified three cases with a diagnosis of autism spectrum disorder (Hamilton et al., 2016). Phenotypic characterization of 52 patients with Rubinstein-Taybi syndrome 2, 42 of whom were previously unpublished, found that 12 out of 49 cases (25%) presented with autism or autistic behavior (Fergelot et al., 2016). A de novo frameshift variant in EP300 and a de novo damaging missense variant in EP300 were identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection, respectively (De Rubeis et al., 2014; Iossifov et al., 2014). De novo loss-of-function variants in EP300 have also been identified in individuals from the Deciphering Developmental Disorders study (Fitzgerald et al., 2015).

Reports Added
[Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense v...2019]
10/1/2017
4S
icon
4S

Decreased from 4S to 4S

Description

Heterozygous variants in the EP300 gene are responsible for Rubinstein-Taybi syndrome 2 (OMIM 613684), a multiple congenital anomaly syndrome characterized by intellectual disability, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features (Roelfsema et al., 2005; Zimmermann et al., 2007; Foley et al., 2009). A patient with a de novo EP300 frameshift variant and a clinical diagnosis of Rubinstein-Taybi syndrome 2 also presented with autism (Wincent et al., 2015). A report describing nine new cases with Rubinstein-Taybi syndrome type 2 identified three cases with a diagnosis of autism spectrum disorder (Hamilton et al., 2016). Phenotypic characterization of 52 patients with Rubinstein-Taybi syndrome 2, 42 of whom were previously unpublished, found that 12 out of 49 cases (25%) presented with autism or autistic behavior (Fergelot et al., 2016). A de novo frameshift variant in EP300 and a de novo damaging missense variant in EP300 were identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection, respectively (De Rubeis et al., 2014; Iossifov et al., 2014). De novo loss-of-function variants in EP300 have also been identified in individuals from the Deciphering Developmental Disorders study (Fitzgerald et al., 2015).

Reports Added
[Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.2017]
10/1/2016
4S
icon
4S

Decreased from 4S to 4S

Description

Heterozygous variants in the EP300 gene are responsible for Rubinstein-Taybi syndrome 2 (OMIM 613684), a multiple congenital anomaly syndrome characterized by intellectual disability, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features (Roelfsema et al., 2005; Zimmermann et al., 2007; Foley et al., 2009). A patient with a de novo EP300 frameshift variant and a clinical diagnosis of Rubinstein-Taybi syndrome 2 also presented with autism (Wincent et al., 2015). A report describing nine new cases with Rubinstein-Taybi syndrome type 2 identified three cases with a diagnosis of autism spectrum disorder (Hamilton et al., 2016). Phenotypic characterization of 52 patients with Rubinstein-Taybi syndrome 2, 42 of whom were previously unpublished, found that 12 out of 49 cases (25%) presented with autism or autistic behavior (Fergelot et al., 2016). A de novo frameshift variant in EP300 and a de novo damaging missense variant in EP300 were identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection, respectively (De Rubeis et al., 2014; Iossifov et al., 2014). De novo loss-of-function variants in EP300 have also been identified in individuals from the Deciphering Developmental Disorders study (Fitzgerald et al., 2015).

Reports Added
[Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.2016]
7/1/2016
icon
4S

Increased from to 4S

Description

Heterozygous variants in the EP300 gene are responsible for Rubinstein-Taybi syndrome 2 (OMIM 613684), a multiple congenital anomaly syndrome characterized by intellectual disability, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features (Roelfsema et al., 2005; Zimmermann et al., 2007; Foley et al., 2009). A patient with a de novo EP300 frameshift variant and a clinical diagnosis of Rubinstein-Taybi syndrome 2 also presented with autism (Wincent et al., 2015). A report describing nine new cases with Rubinstein-Taybi syndrome type 2 identified three cases with a diagnosis of autism spectrum disorder (Hamilton et al., 2016). A de novo frameshift variant in EP300 and a de novo damaging missense variant in EP300 were identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection, respectively (De Rubeis et al., 2014; Iossifov et al., 2014). De novo loss-of-function variants in EP300 have also been identified in individuals from the Deciphering Developmental Disorders study (Fitzgerald et al., 2015).

Reports Added
[Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.2016] [Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.2005] [Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.2007] [Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.2009] [Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability2016]
Krishnan Probability Score

Score 0.56512301512648

Ranking 1256/25841 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: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
ExAC Score

Score 0.99999999999948

Ranking 38/18225 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 0.958

Ranking 75/239 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 0.44926919010066

Ranking 351/18665 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 0

Ranking 443/461 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
Interactome
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced Human Protein Binding 6778 P42226
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