Human Gene Module / Chromosome 12 / MED13L

MED13LMediator complex subunit 13-like

Score
2S
Strong Candidate, Syndromic Criteria 2.1, Syndromic
Autism Reports / Total Reports
9 / 22
Rare Variants / Common Variants
74 / 0
Aliases
MED13L, PROSIT240,  THRAP2,  TRAP240L
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
12q24.21
Associated Disorders
ID, DD/NDD, ASD
Relevance to Autism

Two de novo loss-of-function variants in the MED13L gene have been identified in ASD probands from the Simons Simplex Collection (refs).

Molecular Function

The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA) [MIM:608808].

Reports related to MED13L (22 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary De novo gene disruptions in children on the autistic spectrum. Iossifov I , et al. (2012) Yes -
2 Support Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Redin C , et al. (2014) No -
3 Support De novo mutations in moderate or severe intellectual disability. Hamdan FF , et al. (2014) No Speech delay, motor delay
4 Recent recommendation The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
5 Support Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014) Yes -
6 Support Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. Cafiero C , et al. (2015) No -
7 Recent recommendation Redefining the MED13L syndrome. Adegbola A , et al. (2015) No Autistic features (2 cases
8 Support Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. Codina-Sol M , et al. (2015) Yes -
9 Recent recommendation Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I , et al. (2015) Yes -
10 Support Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Lelieveld SH , et al. (2016) No -
11 Support De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? Caro-Llopis A , et al. (2016) No Autistic behavior (1/2 cases)
12 Support Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Doan RN , et al. (2016) Yes -
13 Support De novo genic mutations among a Chinese autism spectrum disorder cohort. Wang T , et al. (2016) Yes -
14 Support Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Stessman HA , et al. (2017) Yes -
15 Support MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. Yamamoto T , et al. (2017) No DD, ID
16 Support Genomic diagnosis for children with intellectual disability and/or developmental delay. Bowling KM , et al. (2017) No -
17 Support Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Asadollahi R , et al. (2017) No Hypotonia, dysmorphic features
18 Support Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients. Chrot E , et al. (2017) No -
19 Support High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Hamdan FF , et al. (2017) No DD/ID
20 Support Exome Pool-Seq in neurodevelopmental disorders. Popp B , et al. (2017) No Hypotonia
21 Support Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Takata A , et al. (2018) Yes -
22 Recent recommendation MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Smol T , et al. (2018) No Autistic features (10/29 cases)
Rare Variants   (74)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.5364dupG p.Glu1788fs splice_site_variant De novo - Simplex 22542183 Iossifov I , et al. (2012)
c.6118_6125del p.Gly2040AsnfsTer32 frameshift_variant De novo - Simplex 25167861 Redin C , et al. (2014)
c.1708_1709delCT p.Ser570PhefsTer27 frameshift_variant De novo - Simplex 25356899 Hamdan FF , et al. (2014)
c.4076G>A p.Trp1359Ter stop_gained De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.1690C>T p.Arg564Ter stop_gained De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.329G>A p.Trp110Ter stop_gained De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.4103delG p.Arg1368fs frameshift_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.6005C>T p.Ser2002Leu missense_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
CTGTGT/CT - frameshift_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.5695G>A p.Gly1899Arg missense_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.3765delC p.Cys1256ValfsTer2 frameshift_variant De novo - Simplex 25712080 Cafiero C , et al. (2015)
c.607dupT p.Ser203SerfsTer32 frameshift_variant De novo - Simplex 25712080 Cafiero C , et al. (2015)
c.4420A>T p.Lys1474Ter stop_gained De novo - Simplex 25712080 Cafiero C , et al. (2015)
- - copy_number_gain De novo - - 25758992 Adegbola A , et al. (2015)
- - copy_number_loss De novo - - 25758992 Adegbola A , et al. (2015)
- - copy_number_gain De novo - - 25758992 Adegbola A , et al. (2015)
- - copy_number_gain De novo - - 25758992 Adegbola A , et al. (2015)
- - copy_number_loss De novo - - 25758992 Adegbola A , et al. (2015)
delGA p.Gln1984AlafsTer31 frameshift_variant De novo - - 25758992 Adegbola A , et al. (2015)
- - copy_number_gain Familial Maternal - 25758992 Adegbola A , et al. (2015)
- - copy_number_loss De novo - - 25758992 Adegbola A , et al. (2015)
c.1708_1709delAG p.Ser570PhefsTer27 frameshift_variant De novo - Simplex 25969726 Codina-Sol M , et al. (2015)
c.3392G>A p.Cys1131Tyr missense_variant De novo - - 27479843 Lelieveld SH , et al. (2016)
c.5695G>A p.Gly1899Arg missense_variant De novo - - 27500536 Caro-Llopis A , et al. (2016)
c.2524C>T p.Arg842Ter stop_gained De novo - - 27500536 Caro-Llopis A , et al. (2016)
G>CT - intergenic_variant - - Unknown 27667684 Doan RN , et al. (2016)
c.2395_2396del p.Gln799GlyfsTer10 frameshift_variant De novo - - 27824329 Wang T , et al. (2016)
c.6317C>T p.Ala2106Ile missense_variant Familial Maternal - 27824329 Wang T , et al. (2016)
c.6301G>T p.Val2101Leu missense_variant Familial Paternal - 27824329 Wang T , et al. (2016)
c.2344G>T p.Glu782Ter stop_gained De novo - - 28191889 Stessman HA , et al. (2017)
c.257delT p.Phe86SerfsTer9 frameshift_variant De novo - - 28371282 Yamamoto T , et al. (2017)
c.311_2569del - copy_number_loss Familial Maternal Multiplex 28371282 Yamamoto T , et al. (2017)
c.124dupG p.Asp42Glyfs frameshift_variant De novo - - 28554332 Bowling KM , et al. (2017)
c.6485C>T p.Thr2162Met missense_variant De novo - - 28554332 Bowling KM , et al. (2017)
c.2504delC p.Pro835LeufsTer46 frameshift_variant De novo - Simplex 28645799 Asadollahi R , et al. (2017)
c.2579A>G p.Asp860Gly missense_variant De novo - Simplex 28645799 Asadollahi R , et al. (2017)
c.5588_1G>A p.? splice_site_variant De novo (germline mosaicism) - Multiplex 28708303 Chrot E , et al. (2017)
c.1718C>T p.Pro573Leu missense_variant De novo - Simplex 29100083 Hamdan FF , et al. (2017)
c.5173C>T p.Gln1725Ter stop_gained De novo - - 29158550 Popp B , et al. (2017)
c.2399dup p.Thr801AsnfsTer9 frameshift_variant De novo - - 29158550 Popp B , et al. (2017)
c.6280C>T p.Pro2094Ser missense_variant De novo - Simplex 29346770 Takata A , et al. (2018)
- - copy_number_loss De novo - - 29511999 Smol T , et al. (2018)
- - copy_number_loss De novo - - 29511999 Smol T , et al. (2018)
- - copy_number_loss De novo - - 29511999 Smol T , et al. (2018)
- - copy_number_loss De novo - - 29511999 Smol T , et al. (2018)
c.173T>A p.Leu58Ter stop_gained De novo - - 29511999 Smol T , et al. (2018)
c.5278C>T p.Arg1760Ter stop_gained De novo - - 29511999 Smol T , et al. (2018)
c.1152dup p.Ile385HisfsTer18 frameshift_variant Unknown - - 29511999 Smol T , et al. (2018)
c.4452del p.Phe1484LeufsTer27 frameshift_variant De novo - - 29511999 Smol T , et al. (2018)
c.5152_5153del p.Met1718GlufsTer21 frameshift_variant De novo - - 29511999 Smol T , et al. (2018)
c.5588+1G>A p.? splice_site_variant De novo - Multiplex 29511999 Smol T , et al. (2018)
c.6485C>T p.Thr2162Met missense_variant De novo - - 29511999 Smol T , et al. (2018)
c.1708_1709del p.Ser570PhefsTer27 frameshift_variant De novo - - 29511999 Smol T , et al. (2018)
c.6284dup p.Ala2096GlyfsTer12 frameshift_variant De novo - - 29511999 Smol T , et al. (2018)
c.830_845del p.Arg277GlnfsTer5 frameshift_variant De novo - - 29511999 Smol T , et al. (2018)
c.2065C>T p.Gln689Ter stop_gained Unknown - - 29511999 Smol T , et al. (2018)
c.3942_3943del p.Ile1315GlnfsTer49 frameshift_variant De novo - - 29511999 Smol T , et al. (2018)
c.2597C>T p.Pro866Leu missense_variant De novo - - 29511999 Smol T , et al. (2018)
c.6488C>T p.Ser2163Leu missense_variant Unknown - - 29511999 Smol T , et al. (2018)
c.2930C>T p.Ala977Val missense_variant De novo - - 29511999 Smol T , et al. (2018)
c.6488C>T p.Ser2163Leu missense_variant De novo - - 29511999 Smol T , et al. (2018)
- - copy_number_loss De novo - - 29511999 Smol T , et al. (2018)
c.1009+1G>C p.? splice_site_variant De novo - - 29511999 Smol T , et al. (2018)
c.2340_2343del p.Thr781MetfsTer19 frameshift_variant De novo - - 29511999 Smol T , et al. (2018)
c.3911_3912del p.Val1304AlafsTer60 frameshift_variant Unknown - - 29511999 Smol T , et al. (2018)
c.2605C>T p.Pro869Ser missense_variant De novo - - 29511999 Smol T , et al. (2018)
c.1903dupA p.Ser635LysfsTer8 frameshift_variant De novo - - 29511999 Smol T , et al. (2018)
c.1009+1G>C p.? splice_site_variant De novo - - 29511999 Smol T , et al. (2018)
c.2345-3C>G p.? splice_site_variant De novo - - 29511999 Smol T , et al. (2018)
c.6530C>A p.Ser2177Tyr missense_variant De novo - - 29511999 Smol T , et al. (2018)
c.6005C>T p.Ser2002Leu missense_variant De novo - - 29511999 Smol T , et al. (2018)
c.6225+1G>A p.? splice_site_variant De novo - - 29511999 Smol T , et al. (2018)
c.2605C>T p.Pro869Ser missense_variant De novo - - 29511999 Smol T , et al. (2018)
c.5764C>T p.Gln1922Ter stop_gained De novo - - 29511999 Smol T , et al. (2018)
Common Variants  

No common variants reported.

SFARI Gene score
2S

Strong Candidate, Syndromic

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

Score Delta: Decreased from 3 to 2

2

Strong Candidate

See all Category 2 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.

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."

1/1/2015
3
icon
2

Decreased from 3 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

1/1/2016
2
icon
2

Decreased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

1/1/2017
2
icon
2

Decreased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

1/1/2018
2
icon
2S

Decreased from 2 to 2S

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080). Phenotypic characterization of 66 individuals with MED13L-related intellectual disability in Smol et al., 2018 determined that autistic features were present in 28% (16/58) of this cohort.

10/1/2014
icon
3

Increased from to 3

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768).

10/1/2015
2
icon
2

Increased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

10/1/2016
2
icon
2

Increased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

10/1/2017
2
icon
2

Increased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

4/1/2015
2
icon
2

Increased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

4/1/2016
2
icon
2

Increased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

4/1/2017
2
icon
2

Increased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

Reports Added
[De novo gene disruptions in children on the autistic spectrum.2012] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.2015] [Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.2016] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [The contribution of de novo coding mutations to autism spectrum disorder.2014] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [Redefining the MED13L syndrome.2015] [De novo genic mutations among a Chinese autism spectrum disorder cohort.2016] [Genomic diagnosis for children with intellectual disability and/or developmental delay.2017] [De novo mutations in moderate or severe intellectual disability.2014] [Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.2017] [Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.2016] [De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?2016] [MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.2017] [Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.2015]
7/1/2015
2
icon
2

Increased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

7/1/2016
2
icon
2

Increased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

7/1/2017
2
icon
2

Increased from 2 to 2

Description

Two de novo LoF variants in the MED13L gene (one splice-site, one nonsense) were identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 25363768). A third de novo LoF variant in MED13L was identified in a patient from the Deciphering Developmental Disorders Study presenting with ASD and developmental delay (PMID 25533962). Variants in MED13L that result in haploinsufficiency are also associated with intellectual disability with or without congenital heart defects (PMIDs 23403903, 24781760, 25712080).

Krishnan Probability Score

Score 0.57189423822695

Ranking 740/25841 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.
ExAC Score

Score 0.99999999867715

Ranking 104/18225 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
Iossifov Probability Score

Score 0.998

Ranking 9/239 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
Sanders TADA Score

Score 0.71654119428162

Ranking 1269/18665 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).
Larsen Cumulative Evidence Score

Score 18

Ranking 112/461 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.
Zhang D Score

Score 0.59306800301297

Ranking 102/20870 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.
CNVs associated with MED13L(1 CNVs)
12q24.21 7 Deletion-Duplication 10  /  17
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
MED19 Mediator of RNA polymerase II transcription subunit 19 Human Protein Binding 219541 A0JLT2
Submit New Gene

Report an Error