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MED13 (mediator complex subunit 13)

Identity

Alias_namesTHRAP1
thyroid hormone receptor associated protein 1
Alias_symbol (synonym)KIAA0593
TRAP240
Other aliasARC250
DRIP250
HSPC221
HGNC (Hugo) MED13
LocusID (NCBI) 9969
Atlas_Id 54448
Location 17q23.2  [Link to chromosome band 17q23]
Location_base_pair Starts at 61942605 and ends at 62065282 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCAS3 (17q23.2) / MED13 (17q23.2)LOC100506054 () / MED13 (17q23.2)MED13 (17q23.2) / ABCA9 (17q24.2)
MED13 (17q23.2) / BCAS3 (17q23.2)MED13 (17q23.2) / BRWD1 (21q22.2)MED13 (17q23.2) / DDX42 (17q23.3)
MED13 (17q23.2) / ITGA3 (17q21.33)MED13 (17q23.2) / KCNJ2 (17q24.3)MED13 (17q23.2) / MED13 (17q23.2)
MED13 (17q23.2) / TANC2 (17q23.2)MED13 (17q23.2) / TEX2 (17q23.3)MED13 (17q23.2) / TLDC2 (20q11.23)
MED13 (17q23.2) / VMP1 (17q23.1)MED13 17q23.2 / ABCA9 17q24.2MED13 17q23.2 C20orf118
MED13 17q23.2 / DDX42 17q23.3MED13 17q23.2 / ITGA3 17q21.33MED13 17q23.2 / KCNJ2 17q24.3
MED13 17q23.2 / TANC2 17q23.2MED13 17q23.2 / TEX2 17q23.3MED13 17q23.2 / VMP1 17q23.1

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)MED13   22474
Cards
Entrez_Gene (NCBI)MED13  9969  mediator complex subunit 13
AliasesARC250; DRIP250; HSPC221; THRAP1; 
TRAP240
GeneCards (Weizmann)MED13
Ensembl hg19 (Hinxton)ENSG00000108510 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108510 [Gene_View]  chr17:61942605-62065282 [Contig_View]  MED13 [Vega]
ICGC DataPortalENSG00000108510
TCGA cBioPortalMED13
AceView (NCBI)MED13
Genatlas (Paris)MED13
WikiGenes9969
SOURCE (Princeton)MED13
Genetics Home Reference (NIH)MED13
Genomic and cartography
GoldenPath hg38 (UCSC)MED13  -     chr17:61942605-62065282 -  17q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MED13  -     17q23.2   [Description]    (hg19-Feb_2009)
EnsemblMED13 - 17q23.2 [CytoView hg19]  MED13 - 17q23.2 [CytoView hg38]
Mapping of homologs : NCBIMED13 [Mapview hg19]  MED13 [Mapview hg38]
OMIM603808   
Gene and transcription
Genbank (Entrez)AB011165 AF117754 AF151055 AK054894 BC044258
RefSeq transcript (Entrez)NM_005121
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MED13
Cluster EST : UnigeneHs.282678 [ NCBI ]
CGAP (NCI)Hs.282678
Alternative Splicing GalleryENSG00000108510
Gene ExpressionMED13 [ NCBI-GEO ]   MED13 [ EBI - ARRAY_EXPRESS ]   MED13 [ SEEK ]   MED13 [ MEM ]
Gene Expression Viewer (FireBrowse)MED13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9969
GTEX Portal (Tissue expression)MED13
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHV7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHV7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHV7
Splice isoforms : SwissVarQ9UHV7
PhosPhoSitePlusQ9UHV7
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)MED13
DMDM Disease mutations9969
Blocks (Seattle)MED13
SuperfamilyQ9UHV7
Human Protein AtlasENSG00000108510
Peptide AtlasQ9UHV7
HPRD07229
IPIIPI00021388   IPI00748855   IPI00973415   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHV7
IntAct (EBI)Q9UHV7
FunCoupENSG00000108510
BioGRIDMED13
STRING (EMBL)MED13
ZODIACMED13
Ontologies - Pathways
QuickGOQ9UHV7
Ontology : AmiGORNA polymerase II transcription cofactor activity  transcription cofactor activity  transcription coactivator activity  receptor activity  nucleus  nucleoplasm  transcription initiation from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  membrane  mediator complex  ligand-dependent nuclear receptor transcription coactivator activity  intracellular steroid hormone receptor signaling pathway  androgen receptor signaling pathway  cholesterol homeostasis  vitamin D receptor binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  thyroid hormone receptor binding  triglyceride homeostasis  negative regulation of thyroid hormone receptor activity  
Ontology : EGO-EBIRNA polymerase II transcription cofactor activity  transcription cofactor activity  transcription coactivator activity  receptor activity  nucleus  nucleoplasm  transcription initiation from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  membrane  mediator complex  ligand-dependent nuclear receptor transcription coactivator activity  intracellular steroid hormone receptor signaling pathway  androgen receptor signaling pathway  cholesterol homeostasis  vitamin D receptor binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  thyroid hormone receptor binding  triglyceride homeostasis  negative regulation of thyroid hormone receptor activity  
Pathways : KEGGThyroid hormone signaling pathway   
NDEx NetworkMED13
Atlas of Cancer Signalling NetworkMED13
Wikipedia pathwaysMED13
Orthology - Evolution
OrthoDB9969
GeneTree (enSembl)ENSG00000108510
Phylogenetic Trees/Animal Genes : TreeFamMED13
HOVERGENQ9UHV7
HOGENOMQ9UHV7
Homologs : HomoloGeneMED13
Homology/Alignments : Family Browser (UCSC)MED13
Gene fusions - Rearrangements
Fusion : MitelmanBCAS3/MED13 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanMED13/ABCA9 [17q23.2/17q24.2]  [t(17;17)(q23;q24)]  
Fusion : MitelmanMED13/BCAS3 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanMED13/DDX42 [17q23.2/17q23.3]  [t(17;17)(q23;q23)]  
Fusion : MitelmanMED13/ITGA3 [17q23.2/17q21.33]  [t(17;17)(q21;q23)]  
Fusion : MitelmanMED13/KCNJ2 [17q23.2/17q24.3]  [t(17;17)(q23;q24)]  
Fusion : MitelmanMED13/TANC2 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanMED13/TEX2 [17q23.2/17q23.3]  [t(17;17)(q23;q23)]  
Fusion : MitelmanMED13/TLDC2 [17q23.2/20q11.23]  [t(17;20)(q23;q11)]  
Fusion : MitelmanMED13/VMP1 [17q23.2/17q23.1]  [t(17;17)(q23;q23)]  
Fusion: TCGAMED13 17q23.2 ABCA9 17q24.2 BRCA
Fusion: TCGAMED13 17q23.2 C20orf118 LUAD
Fusion: TCGAMED13 17q23.2 DDX42 17q23.3 LUAD
Fusion: TCGAMED13 17q23.2 ITGA3 17q21.33 BRCA
Fusion: TCGAMED13 17q23.2 KCNJ2 17q24.3 BRCA
Fusion: TCGAMED13 17q23.2 TANC2 17q23.2 BRCA
Fusion: TCGAMED13 17q23.2 TEX2 17q23.3 BRCA
Fusion: TCGAMED13 17q23.2 VMP1 17q23.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMED13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MED13
dbVarMED13
ClinVarMED13
1000_GenomesMED13 
Exome Variant ServerMED13
ExAC (Exome Aggregation Consortium)MED13 (select the gene name)
Genetic variants : HAPMAP9969
Genomic Variants (DGV)MED13 [DGVbeta]
DECIPHERMED13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMED13 
Mutations
ICGC Data PortalMED13 
TCGA Data PortalMED13 
Broad Tumor PortalMED13
OASIS PortalMED13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMED13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMED13
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 MED13
DgiDB (Drug Gene Interaction Database)MED13
DoCM (Curated mutations)MED13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MED13 (select a term)
intoGenMED13
Cancer3DMED13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603808   
Orphanet
MedgenMED13
Genetic Testing Registry MED13
NextProtQ9UHV7 [Medical]
TSGene9969
GENETestsMED13
Target ValidationMED13
Huge Navigator MED13 [HugePedia]
snp3D : Map Gene to Disease9969
BioCentury BCIQMED13
ClinGenMED13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9969
Chemical/Pharm GKB GenePA162395168
Clinical trialMED13
Miscellaneous
canSAR (ICR)MED13 (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMED13
EVEXMED13
GoPubMedMED13
iHOPMED13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:42:40 CEST 2017

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