Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GTF2H5 (general transcription factor IIH subunit 5)

Identity

Other namesC6orf175
TFB5
TFIIH
TGF2H5
TTD
TTD-A
TTD3
TTDA
bA120J8.2
HGNC (Hugo) GTF2H5
LocusID (NCBI) 404672
Atlas_Id 43058
Location 6q25.3
Location_base_pair Starts at 158589379 and ends at 158620376 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AP2M1 (3q27.1) / GTF2H5 (6q25.3)

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Trichothiodystrophy (TTD)

External links

Nomenclature
HGNC (Hugo)GTF2H5   21157
Cards
Entrez_Gene (NCBI)GTF2H5  404672  general transcription factor IIH subunit 5
GeneCards (Weizmann)GTF2H5
Ensembl hg19 (Hinxton)ENSG00000272047 [Gene_View]  chr6:158589379-158620376 [Contig_View]  GTF2H5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000272047 [Gene_View]  chr6:158589379-158620376 [Contig_View]  GTF2H5 [Vega]
ICGC DataPortalENSG00000272047
TCGA cBioPortalGTF2H5
AceView (NCBI)GTF2H5
Genatlas (Paris)GTF2H5
WikiGenes404672
SOURCE (Princeton)GTF2H5
Genomic and cartography
GoldenPath hg19 (UCSC)GTF2H5  -     chr6:158589379-158620376 +  6q25.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GTF2H5  -     6q25.3   [Description]    (hg38-Dec_2013)
EnsemblGTF2H5 - 6q25.3 [CytoView hg19]  GTF2H5 - 6q25.3 [CytoView hg38]
Mapping of homologs : NCBIGTF2H5 [Mapview hg19]  GTF2H5 [Mapview hg38]
OMIM608780   616395   
Gene and transcription
Genbank (Entrez)AJ634743 AK024874 AK055106 AK129771 BC004568
RefSeq transcript (Entrez)NM_207118
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_011758 NT_025741 NW_004929328
Consensus coding sequences : CCDS (NCBI)GTF2H5
Cluster EST : UnigeneHs.356224 [ NCBI ]
CGAP (NCI)Hs.356224
Alternative Splicing : Fast-db (Paris)GSHG0026158
Alternative Splicing GalleryENSG00000272047
Gene ExpressionGTF2H5 [ NCBI-GEO ]   GTF2H5 [ EBI - ARRAY_EXPRESS ]   GTF2H5 [ SEEK ]   GTF2H5 [ MEM ]
Gene Expression Viewer (FireBrowse)GTF2H5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)404672
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZYL4 (Uniprot)
NextProtQ6ZYL4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZYL4
Splice isoforms : SwissVarQ6ZYL4 (Swissvar)
PhosPhoSitePlusQ6ZYL4
Domains : Interpro (EBI)TFIIH_TTDA/Tfb5   
Domain families : Pfam (Sanger)Tfb5 (PF06331)   
Domain families : Pfam (NCBI)pfam06331   
DMDM Disease mutations404672
Blocks (Seattle)GTF2H5
PDB (SRS)1YDL    2JNJ   
PDB (PDBSum)1YDL    2JNJ   
PDB (IMB)1YDL    2JNJ   
PDB (RSDB)1YDL    2JNJ   
Structural Biology KnowledgeBase1YDL    2JNJ   
SCOP (Structural Classification of Proteins)1YDL    2JNJ   
CATH (Classification of proteins structures)1YDL    2JNJ   
SuperfamilyQ6ZYL4
Human Protein AtlasENSG00000272047
Peptide AtlasQ6ZYL4
HPRD10581
IPIIPI00165309   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZYL4
IntAct (EBI)Q6ZYL4
FunCoupENSG00000272047
BioGRIDGTF2H5
STRING (EMBL)GTF2H5
ZODIACGTF2H5
Ontologies - Pathways
QuickGOQ6ZYL4
Ontology : AmiGOrDNA binding  core TFIIH complex  nucleotide-excision repair, DNA duplex unwinding  nucleoplasm  nucleolus  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, preincision complex stabilization  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  rRNA processing  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  nucleotide-excision repair, DNA incision  global genome nucleotide-excision repair  cellular response to gamma radiation  
Ontology : EGO-EBIrDNA binding  core TFIIH complex  nucleotide-excision repair, DNA duplex unwinding  nucleoplasm  nucleolus  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, preincision complex stabilization  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  rRNA processing  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  nucleotide-excision repair, DNA incision  global genome nucleotide-excision repair  cellular response to gamma radiation  
Pathways : KEGGBasal transcription factors    Nucleotide excision repair   
NDEx Network
Atlas of Cancer Signalling NetworkGTF2H5
Wikipedia pathwaysGTF2H5
Orthology - Evolution
OrthoDB404672
GeneTree (enSembl)ENSG00000272047
Phylogenetic Trees/Animal Genes : TreeFamGTF2H5
Homologs : HomoloGeneGTF2H5
Homology/Alignments : Family Browser (UCSC)GTF2H5
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGTF2H5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2H5
dbVarGTF2H5
ClinVarGTF2H5
1000_GenomesGTF2H5 
Exome Variant ServerGTF2H5
ExAC (Exome Aggregation Consortium)GTF2H5 (select the gene name)
SNP (GeneSNP Utah)GTF2H5
SNP : HGBaseGTF2H5
Genetic variants : HAPMAPGTF2H5
Genomic Variants (DGV)GTF2H5 [DGVbeta]
Mutations
ICGC Data PortalGTF2H5 
TCGA Data PortalGTF2H5 
Broad Tumor PortalGTF2H5
OASIS PortalGTF2H5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGTF2H5 
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 GTF2H5
DgiDB (Drug Gene Interaction Database)GTF2H5
DoCM (Curated mutations)GTF2H5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GTF2H5 (select a term)
intoGenGTF2H5
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:158589379-158620376
CONAN: Copy Number AnalysisGTF2H5 
Mutations and Diseases : HGMDGTF2H5
OMIM608780    616395   
MedgenGTF2H5
Genetic Testing Registry GTF2H5
NextProtQ6ZYL4 [Medical]
TSGene404672
GENETestsGTF2H5
Huge Navigator GTF2H5 [HugePedia]  GTF2H5 [HugeCancerGEM]
snp3D : Map Gene to Disease404672
BioCentury BCIQGTF2H5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD404672
Chemical/Pharm GKB GenePA134962077
Clinical trialGTF2H5
Miscellaneous
canSAR (ICR)GTF2H5 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGTF2H5
GoPubMedGTF2H5
iHOPGTF2H5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 16 17:46:56 CEST 2016

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