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GTF2IRD1 (GTF2I repeat domain containing 1)

Identity

Alias_namesWBSCR11
GTF2I repeat domain-containing 1
Alias_symbol (synonym)MusTRD1
RBAP2
GTF3
WBSCR12
BEN
Cream1
Other aliasCREAM1
MUSTRD1
WBS
hMusTRD1alpha1
HGNC (Hugo) GTF2IRD1
LocusID (NCBI) 9569
Atlas_Id 64089
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 74453790 and ends at 74602593 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GTF2IRD1 (7q11.23) / ALK (2p23.2)KMT2C (7q36.1) / GTF2IRD1 (7q11.23)MED13L (12q24.21) / GTF2IRD1 (7q11.23)
MED13L GTF2IRD1MLL3 GTF2IRD1

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)GTF2IRD1   4661
Cards
Entrez_Gene (NCBI)GTF2IRD1  9569  GTF2I repeat domain containing 1
AliasesBEN; CREAM1; GTF3; MUSTRD1; 
RBAP2; WBS; WBSCR11; WBSCR12; hMusTRD1alpha1
GeneCards (Weizmann)GTF2IRD1
Ensembl hg19 (Hinxton)ENSG00000006704 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000006704 [Gene_View]  chr7:74453790-74602593 [Contig_View]  GTF2IRD1 [Vega]
ICGC DataPortalENSG00000006704
TCGA cBioPortalGTF2IRD1
AceView (NCBI)GTF2IRD1
Genatlas (Paris)GTF2IRD1
WikiGenes9569
SOURCE (Princeton)GTF2IRD1
Genetics Home Reference (NIH)GTF2IRD1
Genomic and cartography
GoldenPath hg38 (UCSC)GTF2IRD1  -     chr7:74453790-74602593 +  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GTF2IRD1  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblGTF2IRD1 - 7q11.23 [CytoView hg19]  GTF2IRD1 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIGTF2IRD1 [Mapview hg19]  GTF2IRD1 [Mapview hg38]
OMIM604318   
Gene and transcription
Genbank (Entrez)AB209389 AF089107 AF104923 AF118270 AF151354
RefSeq transcript (Entrez)NM_001199207 NM_005685 NM_016328
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GTF2IRD1
Cluster EST : UnigeneHs.647056 [ NCBI ]
CGAP (NCI)Hs.647056
Alternative Splicing GalleryENSG00000006704
Gene ExpressionGTF2IRD1 [ NCBI-GEO ]   GTF2IRD1 [ EBI - ARRAY_EXPRESS ]   GTF2IRD1 [ SEEK ]   GTF2IRD1 [ MEM ]
Gene Expression Viewer (FireBrowse)GTF2IRD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9569
GTEX Portal (Tissue expression)GTF2IRD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHL9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHL9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHL9
Splice isoforms : SwissVarQ9UHL9
PhosPhoSitePlusQ9UHL9
Domaine pattern : Prosite (Expaxy)GTF2I (PS51139)   
Domains : Interpro (EBI)GTF2I    TF_II-I   
Domain families : Pfam (Sanger)GTF2I (PF02946)   
Domain families : Pfam (NCBI)pfam02946   
Conserved Domain (NCBI)GTF2IRD1
DMDM Disease mutations9569
Blocks (Seattle)GTF2IRD1
PDB (SRS)2D99    2DN5    2DZQ    2DZR   
PDB (PDBSum)2D99    2DN5    2DZQ    2DZR   
PDB (IMB)2D99    2DN5    2DZQ    2DZR   
PDB (RSDB)2D99    2DN5    2DZQ    2DZR   
Structural Biology KnowledgeBase2D99    2DN5    2DZQ    2DZR   
SCOP (Structural Classification of Proteins)2D99    2DN5    2DZQ    2DZR   
CATH (Classification of proteins structures)2D99    2DN5    2DZQ    2DZR   
SuperfamilyQ9UHL9
Human Protein AtlasENSG00000006704
Peptide AtlasQ9UHL9
HPRD08379
IPIIPI00069694   IPI00472179   IPI00454912   IPI00945000   IPI00945460   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHL9
IntAct (EBI)Q9UHL9
FunCoupENSG00000006704
BioGRIDGTF2IRD1
STRING (EMBL)GTF2IRD1
ZODIACGTF2IRD1
Ontologies - Pathways
QuickGOQ9UHL9
Ontology : AmiGORNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  multicellular organism development  transition between slow and fast fiber  
Ontology : EGO-EBIRNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  multicellular organism development  transition between slow and fast fiber  
Pathways : KEGGBasal transcription factors    Herpes simplex infection   
NDEx NetworkGTF2IRD1
Atlas of Cancer Signalling NetworkGTF2IRD1
Wikipedia pathwaysGTF2IRD1
Orthology - Evolution
OrthoDB9569
GeneTree (enSembl)ENSG00000006704
Phylogenetic Trees/Animal Genes : TreeFamGTF2IRD1
HOVERGENQ9UHL9
HOGENOMQ9UHL9
Homologs : HomoloGeneGTF2IRD1
Homology/Alignments : Family Browser (UCSC)GTF2IRD1
Gene fusions - Rearrangements
Fusion: TCGAMED13L GTF2IRD1
Fusion: TCGAMLL3 GTF2IRD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGTF2IRD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2IRD1
dbVarGTF2IRD1
ClinVarGTF2IRD1
1000_GenomesGTF2IRD1 
Exome Variant ServerGTF2IRD1
ExAC (Exome Aggregation Consortium)GTF2IRD1 (select the gene name)
Genetic variants : HAPMAP9569
Genomic Variants (DGV)GTF2IRD1 [DGVbeta]
DECIPHERGTF2IRD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGTF2IRD1 
Mutations
ICGC Data PortalGTF2IRD1 
TCGA Data PortalGTF2IRD1 
Broad Tumor PortalGTF2IRD1
OASIS PortalGTF2IRD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGTF2IRD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGTF2IRD1
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 GTF2IRD1
DgiDB (Drug Gene Interaction Database)GTF2IRD1
DoCM (Curated mutations)GTF2IRD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GTF2IRD1 (select a term)
intoGenGTF2IRD1
Cancer3DGTF2IRD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604318   
Orphanet145   
MedgenGTF2IRD1
Genetic Testing Registry GTF2IRD1
NextProtQ9UHL9 [Medical]
TSGene9569
GENETestsGTF2IRD1
Target ValidationGTF2IRD1
Huge Navigator GTF2IRD1 [HugePedia]
snp3D : Map Gene to Disease9569
BioCentury BCIQGTF2IRD1
ClinGenGTF2IRD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9569
Chemical/Pharm GKB GenePA29047
Clinical trialGTF2IRD1
Miscellaneous
canSAR (ICR)GTF2IRD1 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGTF2IRD1
EVEXGTF2IRD1
GoPubMedGTF2IRD1
iHOPGTF2IRD1
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 15:51:40 CEST 2017

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