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GTF2H5 (general transcription factor IIH, polypeptide 5)

Identity

Other namesC6orf175
TFB5
TFIIH
TGF2H5
TTD
TTD-A
TTDA
bA120J8.2
HGNC (Hugo) GTF2H5
LocusID (NCBI) 404672
Location 6q25.3
Location_base_pair Starts at 158589379 and ends at 158620376 bp from pter ( according to hg19-Feb_2009)
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)GTF2H5   21157
Cards
Entrez_Gene (NCBI)GTF2H5  404672  general transcription factor IIH, polypeptide 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
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]
OMIM601675   608780   
Gene and transcription
Genbank (Entrez)AJ634743 AK024874 AK055106 AK129771 BC004568
RefSeq transcript (Entrez)NM_207118
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_011758 NT_025741 NW_001838991 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 [ SEEK ]   GTF2H5 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZYL4 (Uniprot)
NextProtQ6ZYL4  [Medical]
With graphics : InterProQ6ZYL4
Splice isoforms : SwissVarQ6ZYL4 (Swissvar)
Domains : Interpro (EBI)TFIIH_TTDA/Tfb5   
Related proteins : CluSTrQ6ZYL4
Domain families : Pfam (Sanger)Tbf5 (PF06331)   
Domain families : Pfam (NCBI)pfam06331   
DMDM Disease mutations404672
Blocks (Seattle)Q6ZYL4
PDB (SRS)1YDL    2JNJ   
PDB (PDBSum)1YDL    2JNJ   
PDB (IMB)1YDL    2JNJ   
PDB (RSDB)1YDL    2JNJ   
Human Protein AtlasENSG00000272047
Peptide AtlasQ6ZYL4
HPRD10581
IPIIPI00165309   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZYL4
IntAct (EBI)Q6ZYL4
FunCoupENSG00000272047
BioGRIDGTF2H5
IntegromeDBGTF2H5
STRING (EMBL)GTF2H5
Ontologies - Pathways
QuickGOQ6ZYL4
Ontology : AmiGOcore TFIIH complex  nucleotide-excision repair  transcription, DNA-templated  regulation of transcription, DNA-templated  
Ontology : EGO-EBIcore TFIIH complex  nucleotide-excision repair  transcription, DNA-templated  regulation of transcription, DNA-templated  
Pathways : KEGGBasal transcription factors    Nucleotide excision repair   
Protein Interaction DatabaseGTF2H5
DoCM (Curated mutations)GTF2H5
Wikipedia pathwaysGTF2H5
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGTF2H5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2H5
dbVarGTF2H5
ClinVarGTF2H5
1000_GenomesGTF2H5 
Exome Variant ServerGTF2H5
SNP (GeneSNP Utah)GTF2H5
SNP : HGBaseGTF2H5
Genetic variants : HAPMAPGTF2H5
Genomic VariantsGTF2H5  GTF2H5 [DGVbeta]
Mutations
ICGC Data PortalENSG00000272047 
Somatic Mutations in Cancer : COSMICGTF2H5 
CONAN: Copy Number AnalysisGTF2H5 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:158589379-158620376
Mutations and Diseases : HGMDGTF2H5
OMIM601675    608780   
MedgenGTF2H5
NextProtQ6ZYL4 [Medical]
GENETestsGTF2H5
Disease Genetic AssociationGTF2H5
Huge Navigator GTF2H5 [HugePedia]  GTF2H5 [HugeCancerGEM]
snp3D : Map Gene to Disease404672
DGIdb (Drug Gene Interaction db)GTF2H5
General knowledge
Homologs : HomoloGeneGTF2H5
Homology/Alignments : Family Browser (UCSC)GTF2H5
Phylogenetic Trees/Animal Genes : TreeFamGTF2H5
Chemical/Protein Interactions : CTD404672
Chemical/Pharm GKB GenePA134962077
Clinical trialGTF2H5
Cancer Resource (Charite)ENSG00000272047
Other databases
Probes
Litterature
PubMed18 Pubmed reference(s) in 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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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:54:45 CET 2014

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