Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GTF2I (general transcription factor IIi)

Identity

Alias_namesWBSCR6
general transcription factor II
Alias_symbol (synonym)TFII-I
BAP-135
SPIN
BTKAP1
DIWS
IB291
Other aliasBAP135
GTFII-I
WBS
HGNC (Hugo) GTF2I
LocusID (NCBI) 2969
Atlas_Id 51639
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 74071991 and ends at 74175022 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ANKHD1-EIF4EBP3 (5q31.3) / GTF2I (7q11.23)EIF4H (7q11.23) / GTF2I (7q11.23)GTF2I (7q11.23) / CLIP2 (7q11.23)
GTF2I (7q11.23) / GTF2I (7q11.23)GTF2I (7q11.23) / NCL (2q37.1)GTF2I (7q11.23) / NCOA2 (8q13.3)
GTF2I (7q11.23) / PGPEP1 (19p13.11)GTF2I (7q11.23) / RARA (17q21.2)ANKHD1-EIF4EBP3 5q31.3 / GTF2I 7q11.23

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;17)(q11;q21) GTF2I/RARA in APL


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Soft Tissues: Angiofibroma


External links

Nomenclature
HGNC (Hugo)GTF2I   4659
Cards
Entrez_Gene (NCBI)GTF2I  2969  general transcription factor IIi
AliasesBAP135; BTKAP1; DIWS; GTFII-I; 
IB291; SPIN; TFII-I; WBS; WBSCR6
GeneCards (Weizmann)GTF2I
Ensembl hg19 (Hinxton)ENSG00000263001 [Gene_View]  chr7:74071991-74175022 [Contig_View]  GTF2I [Vega]
Ensembl hg38 (Hinxton)ENSG00000263001 [Gene_View]  chr7:74071991-74175022 [Contig_View]  GTF2I [Vega]
ICGC DataPortalENSG00000263001
TCGA cBioPortalGTF2I
AceView (NCBI)GTF2I
Genatlas (Paris)GTF2I
WikiGenes2969
SOURCE (Princeton)GTF2I
Genetics Home Reference (NIH)GTF2I
Genomic and cartography
GoldenPath hg19 (UCSC)GTF2I  -     chr7:74071991-74175022 +  7q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GTF2I  -     7q11.23   [Description]    (hg38-Dec_2013)
EnsemblGTF2I - 7q11.23 [CytoView hg19]  GTF2I - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIGTF2I [Mapview hg19]  GTF2I [Mapview hg38]
OMIM601679   
Gene and transcription
Genbank (Entrez)AA641906 AF015553 AF035737 AF038967 AF038968
RefSeq transcript (Entrez)NM_001163636 NM_001280800 NM_001518 NM_032999 NM_033000 NM_033001
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_008179 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)GTF2I
Cluster EST : UnigeneHs.743231 [ NCBI ]
CGAP (NCI)Hs.743231
Alternative Splicing GalleryENSG00000263001
Gene ExpressionGTF2I [ NCBI-GEO ]   GTF2I [ EBI - ARRAY_EXPRESS ]   GTF2I [ SEEK ]   GTF2I [ MEM ]
Gene Expression Viewer (FireBrowse)GTF2I [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2969
GTEX Portal (Tissue expression)GTF2I
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78347   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78347  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78347
Splice isoforms : SwissVarP78347
PhosPhoSitePlusP78347
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)GTF2I
DMDM Disease mutations2969
Blocks (Seattle)GTF2I
PDB (SRS)2D9B    2DN4    2ED2    2EJE   
PDB (PDBSum)2D9B    2DN4    2ED2    2EJE   
PDB (IMB)2D9B    2DN4    2ED2    2EJE   
PDB (RSDB)2D9B    2DN4    2ED2    2EJE   
Structural Biology KnowledgeBase2D9B    2DN4    2ED2    2EJE   
SCOP (Structural Classification of Proteins)2D9B    2DN4    2ED2    2EJE   
CATH (Classification of proteins structures)2D9B    2DN4    2ED2    2EJE   
SuperfamilyP78347
Human Protein AtlasENSG00000263001
Peptide AtlasP78347
HPRD03399
IPIIPI00054042   IPI00293242   IPI00217449   IPI00217450   IPI01013471   IPI00943949   IPI00924483   IPI00924676   
Protein Interaction databases
DIP (DOE-UCLA)P78347
IntAct (EBI)P78347
FunCoupENSG00000263001
BioGRIDGTF2I
STRING (EMBL)GTF2I
ZODIACGTF2I
Ontologies - Pathways
QuickGOP78347
Ontology : AmiGORNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  signal transduction  transition between slow and fast fiber  membrane  negative regulation of angiogenesis  cell projection  neuronal cell body  mitogen-activated protein kinase binding  negative regulation of cytosolic calcium ion concentration  
Ontology : EGO-EBIRNA polymerase II transcription factor activity, sequence-specific DNA binding  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  regulation of transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  signal transduction  transition between slow and fast fiber  membrane  negative regulation of angiogenesis  cell projection  neuronal cell body  mitogen-activated protein kinase binding  negative regulation of cytosolic calcium ion concentration  
Pathways : KEGGBasal transcription factors    Herpes simplex infection   
NDEx NetworkGTF2I
Atlas of Cancer Signalling NetworkGTF2I
Wikipedia pathwaysGTF2I
Orthology - Evolution
OrthoDB2969
GeneTree (enSembl)ENSG00000263001
Phylogenetic Trees/Animal Genes : TreeFamGTF2I
HOVERGENP78347
HOGENOMP78347
Homologs : HomoloGeneGTF2I
Homology/Alignments : Family Browser (UCSC)GTF2I
Gene fusions - Rearrangements
Fusion : MitelmanANKHD1-EIF4EBP3/GTF2I [5q31.3/7q11.23]  [t(5;7)(q31;q11)]  
Fusion : MitelmanEIF4H/GTF2I [7q11.23/7q11.23]  [t(7;7)(q11;q11)]  
Fusion : MitelmanGTF2I/CLIP2 [7q11.23/7q11.23]  [t(7;7)(q11;q11)]  
Fusion : MitelmanGTF2I/NCOA2 [7q11.23/8q13.3]  [t(7;8;14)(q11;q13;q31)]  
Fusion : MitelmanGTF2I/PGPEP1 [7q11.23/19p13.11]  [t(7;19)(q11;p13)]  
Fusion : MitelmanGTF2I/RARA [7q11.23/17q21.2]  [t(7;17)(q11;q21)]  
Fusion: TCGAANKHD1-EIF4EBP3 5q31.3 GTF2I 7q11.23 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGTF2I [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2I
dbVarGTF2I
ClinVarGTF2I
1000_GenomesGTF2I 
Exome Variant ServerGTF2I
ExAC (Exome Aggregation Consortium)GTF2I (select the gene name)
Genetic variants : HAPMAP2969
Genomic Variants (DGV)GTF2I [DGVbeta]
DECIPHER (Syndromes)7:74071991-74175022  ENSG00000263001
CONAN: Copy Number AnalysisGTF2I 
Mutations
ICGC Data PortalGTF2I 
TCGA Data PortalGTF2I 
Broad Tumor PortalGTF2I
OASIS PortalGTF2I [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGTF2I  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGTF2I
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GTF2I
DgiDB (Drug Gene Interaction Database)GTF2I
DoCM (Curated mutations)GTF2I (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GTF2I (select a term)
intoGenGTF2I
Cancer3DGTF2I(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601679   
Orphanet145   
MedgenGTF2I
Genetic Testing Registry GTF2I
NextProtP78347 [Medical]
TSGene2969
GENETestsGTF2I
Huge Navigator GTF2I [HugePedia]
snp3D : Map Gene to Disease2969
BioCentury BCIQGTF2I
ClinGenGTF2I (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2969
Chemical/Pharm GKB GenePA29045
Clinical trialGTF2I
Miscellaneous
canSAR (ICR)GTF2I (select the gene name)
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGTF2I
EVEXGTF2I
GoPubMedGTF2I
iHOPGTF2I
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:08:25 CET 2017

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