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MED13L (mediator complex subunit 13 like)

Identity

Alias_namesTHRAP2
thyroid hormone receptor associated protein 2
mediator complex subunit 13-like
Alias_symbol (synonym)KIAA1025
TRAP240L
Other aliasMRFACD
PROSIT240
HGNC (Hugo) MED13L
LocusID (NCBI) 23389
Atlas_Id 47174
Location 12q24.21  [Link to chromosome band 12q24]
Location_base_pair Starts at 115958576 and ends at 116277186 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DGKH (13q14.11) / MED13L (12q24.21)DNAAF5 (7p22.3) / MED13L (12q24.21)MED13L (12q24.21) / CD4 (12p13.31)
MED13L (12q24.21) / COL23A1 (5q35.3)MED13L (12q24.21) / DGKH (13q14.11)MED13L (12q24.21) / GTF2IRD1 (7q11.23)
MED13L (12q24.21) / GTPBP4 (10p15.3)MED13L (12q24.21) / LAG3 (12p13.31)MED13L (12q24.21) / MAP1B (5q13.2)
MED13L (12q24.21) / MED13L (12q24.21)MED13L (12q24.21) / METTL9 (16p12.2)MED13L (12q24.21) / MYBPC1 (12q23.2)
MED13L (12q24.21) / NAP1L3 (Xq21.32)MED13L (12q24.21) / PTPN23 (3p21.31)MED13L (12q24.21) / SERPINI2 (3q26.1)
MED13L (12q24.21) / TRAFD1 (12q24.13)SERPINI2 (3q26.1) / MED13L (12q24.21)DGKH 13q14.11 / MED13L 12q24.21
MED13L 12q24.21 / COL23A1 5q35.3MED13L 12q24.21 / DGKH 13q14.11MED13L 12q24.21 / GTF2IRD1 7q11.23
MED13L 12q24.21 / METTL9 16p12.2MED13L 12q24.21 / MYBPC1 12q23.2MED13L 12q24.21 / TRAFD1 12q24.13

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MED13L   22962
Cards
Entrez_Gene (NCBI)MED13L  23389  mediator complex subunit 13 like
AliasesMRFACD; PROSIT240; THRAP2; TRAP240L
GeneCards (Weizmann)MED13L
Ensembl hg19 (Hinxton)ENSG00000123066 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123066 [Gene_View]  chr12:115958576-116277186 [Contig_View]  MED13L [Vega]
ICGC DataPortalENSG00000123066
TCGA cBioPortalMED13L
AceView (NCBI)MED13L
Genatlas (Paris)MED13L
WikiGenes23389
SOURCE (Princeton)MED13L
Genetics Home Reference (NIH)MED13L
Genomic and cartography
GoldenPath hg38 (UCSC)MED13L  -     chr12:115958576-116277186 -  12q24.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MED13L  -     12q24.21   [Description]    (hg19-Feb_2009)
EnsemblMED13L - 12q24.21 [CytoView hg19]  MED13L - 12q24.21 [CytoView hg38]
Mapping of homologs : NCBIMED13L [Mapview hg19]  MED13L [Mapview hg38]
OMIM608771   608808   616789   
Gene and transcription
Genbank (Entrez)AB028948 AF515599 AK023837 AK025280 AK127706
RefSeq transcript (Entrez)NM_015335
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MED13L
Cluster EST : UnigeneHs.715095 [ NCBI ]
CGAP (NCI)Hs.715095
Alternative Splicing GalleryENSG00000123066
Gene ExpressionMED13L [ NCBI-GEO ]   MED13L [ EBI - ARRAY_EXPRESS ]   MED13L [ SEEK ]   MED13L [ MEM ]
Gene Expression Viewer (FireBrowse)MED13L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23389
GTEX Portal (Tissue expression)MED13L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ71F56   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ71F56  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ71F56
Splice isoforms : SwissVarQ71F56
PhosPhoSitePlusQ71F56
Domains : Interpro (EBI)Mediator_Med13    Mediator_Med13_N_met/fun   
Domain families : Pfam (Sanger)Med13_C (PF06333)    Med13_N (PF11597)   
Domain families : Pfam (NCBI)pfam06333    pfam11597   
Conserved Domain (NCBI)MED13L
DMDM Disease mutations23389
Blocks (Seattle)MED13L
SuperfamilyQ71F56
Human Protein AtlasENSG00000123066
Peptide AtlasQ71F56
HPRD10579
IPIIPI00400834   IPI01022005   IPI01020704   IPI01022865   IPI01022731   
Protein Interaction databases
DIP (DOE-UCLA)Q71F56
IntAct (EBI)Q71F56
FunCoupENSG00000123066
BioGRIDMED13L
STRING (EMBL)MED13L
ZODIACMED13L
Ontologies - Pathways
QuickGOQ71F56
Ontology : AmiGORNA polymerase II transcription cofactor activity  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  mediator complex  
Ontology : EGO-EBIRNA polymerase II transcription cofactor activity  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  mediator complex  
Pathways : KEGGThyroid hormone signaling pathway   
NDEx NetworkMED13L
Atlas of Cancer Signalling NetworkMED13L
Wikipedia pathwaysMED13L
Orthology - Evolution
OrthoDB23389
GeneTree (enSembl)ENSG00000123066
Phylogenetic Trees/Animal Genes : TreeFamMED13L
HOVERGENQ71F56
HOGENOMQ71F56
Homologs : HomoloGeneMED13L
Homology/Alignments : Family Browser (UCSC)MED13L
Gene fusions - Rearrangements
Fusion : MitelmanDGKH/MED13L [13q14.11/12q24.21]  [t(12;13)(q24;q14)]  
Fusion : MitelmanMED13L/CD4 [12q24.21/12p13.31]  [inv(12)(p13q24)]  
Fusion : MitelmanMED13L/COL23A1 [12q24.21/5q35.3]  [t(5;12)(q35;q24)]  
Fusion : MitelmanMED13L/DGKH [12q24.21/13q14.11]  [t(12;13)(q24;q14)]  
Fusion : MitelmanMED13L/GTF2IRD1 [12q24.21/7q11.23]  [t(7;12)(q11;q24)]  
Fusion : MitelmanMED13L/LAG3 [12q24.21/12p13.31]  [inv(12)(p13q24)]  
Fusion : MitelmanMED13L/METTL9 [12q24.21/16p12.2]  [t(12;16)(q24;p12)]  
Fusion : MitelmanMED13L/MYBPC1 [12q24.21/12q23.2]  [t(12;12)(q23;q24)]  
Fusion : MitelmanMED13L/TRAFD1 [12q24.21/12q24.13]  [t(12;12)(q24;q24)]  
Fusion: TCGADGKH 13q14.11 MED13L 12q24.21 BRCA
Fusion: TCGAMED13L 12q24.21 COL23A1 5q35.3 LUAD
Fusion: TCGAMED13L 12q24.21 DGKH 13q14.11 BRCA
Fusion: TCGAMED13L 12q24.21 GTF2IRD1 7q11.23 BRCA
Fusion: TCGAMED13L 12q24.21 METTL9 16p12.2 SKCM
Fusion: TCGAMED13L 12q24.21 MYBPC1 12q23.2 LGG
Fusion: TCGAMED13L 12q24.21 TRAFD1 12q24.13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMED13L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MED13L
dbVarMED13L
ClinVarMED13L
1000_GenomesMED13L 
Exome Variant ServerMED13L
ExAC (Exome Aggregation Consortium)MED13L (select the gene name)
Genetic variants : HAPMAP23389
Genomic Variants (DGV)MED13L [DGVbeta]
DECIPHERMED13L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMED13L 
Mutations
ICGC Data PortalMED13L 
TCGA Data PortalMED13L 
Broad Tumor PortalMED13L
OASIS PortalMED13L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMED13L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMED13L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MED13L
DgiDB (Drug Gene Interaction Database)MED13L
DoCM (Curated mutations)MED13L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MED13L (select a term)
intoGenMED13L
Cancer3DMED13L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608771    608808    616789   
Orphanet3463    22443    11804   
MedgenMED13L
Genetic Testing Registry MED13L
NextProtQ71F56 [Medical]
TSGene23389
GENETestsMED13L
Target ValidationMED13L
Huge Navigator MED13L [HugePedia]
snp3D : Map Gene to Disease23389
BioCentury BCIQMED13L
ClinGenMED13L (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23389
Chemical/Pharm GKB GenePA162395233
Clinical trialMED13L
Miscellaneous
canSAR (ICR)MED13L (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMED13L
EVEXMED13L
GoPubMedMED13L
iHOPMED13L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:17:38 CEST 2017

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