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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].

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
DD, ID
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ASD, DD, ID
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
ID
Autistic behavior (1/2 cases)
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
ID
Support
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
ASD
Recent recommendation
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Recent recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent recommendation
Redefining the MED13L syndrome.
ID
Autistic features (2 cases

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN649R001 
 splice_site_variant 
 c.5364dupG 
 p.Glu1788fs 
 De novo 
  
 Simplex 
 GEN649R002 
 stop_gained 
 c.4076G>A 
 p.Trp1359Ter 
 De novo 
  
 Simplex 
 GEN649R003 
 stop_gained 
 c.1690C>T 
 p.Arg564Ter 
 De novo 
  
 Simplex 
 GEN649R004 
 stop_gained 
 c.329G>A 
 p.Trp110Ter 
 De novo 
  
 Simplex 
 GEN649R005 
 frameshift_variant 
 c.4103delG 
 p.Arg1368fs 
 De novo 
  
 Simplex 
 GEN649R006 
 missense_variant 
 c.6005C>T 
 p.Ser2002Leu 
 De novo 
  
 Simplex 
 GEN649R007 
 frameshift_variant 
 CTGTGT/CT 
  
 De novo 
  
 Simplex 
 GEN649R008 
 missense_variant 
 c.5695G>A 
 p.Gly1899Arg 
 De novo 
  
 Simplex 
 GEN649R009 
 frameshift_variant 
 c.6118_6125del 
 p.Gly2040AsnfsTer32 
 De novo 
  
 Simplex 
 GEN649R010 
 frameshift_variant 
 c.3765delC 
 p.Cys1256ValfsTer2 
 De novo 
  
 Simplex 
 GEN649R011 
 frameshift_variant 
 c.607dupT 
 p.Ser203SerfsTer32 
 De novo 
  
 Simplex 
 GEN649R012 
 stop_gained 
 c.4420A>T 
 p.Lys1474Ter 
 De novo 
  
 Simplex 
 GEN649R013 
 copy_number_gain 
  
  
 De novo 
  
  
 GEN649R014 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN649R015 
 copy_number_gain 
  
  
 De novo 
  
  
 GEN649R016 
 copy_number_gain 
  
  
 De novo 
  
  
 GEN649R017 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN649R018 
 frameshift_variant 
 delGA 
 p.Gln1984AlafsTer31 
 De novo 
  
  
 GEN649R019 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN649R020 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN649R021 
 frameshift_variant 
 c.1708_1709delAG 
 p.Ser570PhefsTer27 
 De novo 
  
 Simplex 
 GEN649R022 
 missense_variant 
 c.3392G>A 
 p.Cys1131Tyr 
 De novo 
  
  
 GEN649R023 
 missense_variant 
 c.5695G>A 
 p.Gly1899Arg 
 De novo 
  
  
 GEN649R024 
 stop_gained 
 c.2524C>T 
 p.Arg842Ter 
 De novo 
  
  
 GEN649R025 
 intergenic_variant 
 G>CT 
  
  
  
 Unknown 
 GEN649R026 
 frameshift_variant 
 c.2395_2396del 
 p.Gln799GlyfsTer10 
 De novo 
  
  
 GEN649R027 
 missense_variant 
 c.6317C>T 
 p.Ala2106Ile 
 Familial 
 Maternal 
  
 GEN649R028 
 missense_variant 
 c.6301G>T 
 p.Val2101Leu 
 Familial 
 Paternal 
  

Common

No Common Variants Available



No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CCNC cyclin C 892 P24863 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDK19 cyclin-dependent kinase 19 23097 Q9BWU1 LC-MS/MS
Varjosalo M , et al. 2013
CDK19 cyclin-dependent kinase 19 23097 Q9BWU1 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDK8 cyclin-dependent kinase 8 1024 P49336 LC-MS/MS
Varjosalo M , et al. 2013
CDK8 cyclin-dependent kinase 8 1024 P49336 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
FBXW7 F-box and WD repeat domain containing 7 55294 Q969H0 MS; IP/WB; Ubiquitination assay
Davis MA , et al. 2013
MED1 mediator complex subunit 1 5469 Q15648 MS; IP/WB; Ubiquitination assay
Davis MA , et al. 2013
MED1 mediator complex subunit 1 5469 Q15648 IP; LC-MS/MS
Huttlin EL , et al. 2015
MED10 mediator complex subunit 10 84246 Q9BTT4 TAP; MudPIT
Sato S , et al. 2004
MED18 mediator complex subunit 18 54797 Q9BUE0 IP; LC-MS/MS
Huttlin EL , et al. 2015
MED19 Mediator of RNA polymerase II transcription subunit 19 219541 A0JLT2 TAP; MudPIT
Sato S , et al. 2004
MED19 Mediator of RNA polymerase II transcription subunit 19 219541 A0JLT2 IP; LC-MS/MS
Huttlin EL , et al. 2015
MED21 mediator complex subunit 21 9412 Q13503 IP; LC-MS/MS
Huttlin EL , et al. 2015
MED26 mediator complex subunit 26 9441 O95402 TAP; MudPIT
Sato S , et al. 2004
MED28 mediator complex subunit 28 80306 Q9H204 TAP; MudPIT
Sato S , et al. 2004
MED29 mediator complex subunit 29 55588 B4DUA7 TAP; MudPIT
Sato S , et al. 2004
MED7 mediator complex subunit 7 9443 O43513 IP; LC-MS/MS
Huttlin EL , et al. 2015
MED9 mediator complex subunit 9 55090 Q9NWA0 TAP; MudPIT
Sato S , et al. 2004
UBC ubiquitin C 7316 P63279 MS/MS
Kim W , et al. 2011
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011

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