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THAP1 (THAP domain containing, apoptosis associated protein 1)

Identity

Other namesDYT6
HGNC (Hugo) THAP1
LocusID (NCBI) 55145
Location 8p11.21
Location_base_pair Starts at 42691817 and ends at 42698474 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)THAP1   20856
Cards
Entrez_Gene (NCBI)THAP1  55145  THAP domain containing, apoptosis associated protein 1
GeneCards (Weizmann)THAP1
Ensembl hg19 (Hinxton)ENSG00000131931 [Gene_View]  chr8:42691817-42698474 [Contig_View]  THAP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000131931 [Gene_View]  chr8:42691817-42698474 [Contig_View]  THAP1 [Vega]
ICGC DataPortalENSG00000131931
cBioPortalTHAP1
AceView (NCBI)THAP1
Genatlas (Paris)THAP1
WikiGenes55145
SOURCE (Princeton)THAP1
Genomic and cartography
GoldenPath hg19 (UCSC)THAP1  -     chr8:42691817-42698474 -  8p11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)THAP1  -     8p11.21   [Description]    (hg38-Dec_2013)
EnsemblTHAP1 - 8p11.21 [CytoView hg19]  THAP1 - 8p11.21 [CytoView hg38]
Mapping of homologs : NCBITHAP1 [Mapview hg19]  THAP1 [Mapview hg38]
OMIM602629   609520   
Gene and transcription
Genbank (Entrez)AI475984 AK001339 AK223231 AL832077 BC021721
RefSeq transcript (Entrez)NM_018105 NM_199003
RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NG_011837 NT_167187 NW_001839130 NW_004929337
Consensus coding sequences : CCDS (NCBI)THAP1
Cluster EST : UnigeneHs.7432 [ NCBI ]
CGAP (NCI)Hs.7432
Alternative Splicing : Fast-db (Paris)GSHG0029556
Alternative Splicing GalleryENSG00000131931
Gene ExpressionTHAP1 [ NCBI-GEO ]     THAP1 [ SEEK ]   THAP1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NVV9 (Uniprot)
NextProtQ9NVV9  [Medical]
With graphics : InterProQ9NVV9
Splice isoforms : SwissVarQ9NVV9 (Swissvar)
Domaine pattern : Prosite (Expaxy)ZF_THAP (PS50950)   
Domains : Interpro (EBI)THAP1    Znf_C2CH   
Related proteins : CluSTrQ9NVV9
Domain families : Pfam (Sanger)THAP (PF05485)   
Domain families : Pfam (NCBI)pfam05485   
Domain families : Smart (EMBL)DM3 (SM00692)  THAP (SM00980)  
DMDM Disease mutations55145
Blocks (Seattle)Q9NVV9
PDB (SRS)2JTG    2KO0    2L1G   
PDB (PDBSum)2JTG    2KO0    2L1G   
PDB (IMB)2JTG    2KO0    2L1G   
PDB (RSDB)2JTG    2KO0    2L1G   
Human Protein AtlasENSG00000131931
Peptide AtlasQ9NVV9
HPRD15496
IPIIPI00018216   IPI00395606   IPI00977391   
Protein Interaction databases
DIP (DOE-UCLA)Q9NVV9
IntAct (EBI)Q9NVV9
FunCoupENSG00000131931
BioGRIDTHAP1
IntegromeDBTHAP1
STRING (EMBL)THAP1
Ontologies - Pathways
QuickGOQ9NVV9
Ontology : AmiGOendothelial cell proliferation  protein binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  cell cycle  regulation of mitotic cell cycle  zinc ion binding  PML body  sequence-specific DNA binding  sequence-specific DNA binding  
Ontology : EGO-EBIendothelial cell proliferation  protein binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  cell cycle  regulation of mitotic cell cycle  zinc ion binding  PML body  sequence-specific DNA binding  sequence-specific DNA binding  
Protein Interaction DatabaseTHAP1
DoCM (Curated mutations)THAP1
Wikipedia pathwaysTHAP1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTHAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)THAP1
dbVarTHAP1
ClinVarTHAP1
1000_GenomesTHAP1 
Exome Variant ServerTHAP1
SNP (GeneSNP Utah)THAP1
SNP : HGBaseTHAP1
Genetic variants : HAPMAPTHAP1
Genomic VariantsTHAP1  THAP1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000131931 
Somatic Mutations in Cancer : COSMICTHAP1 
CONAN: Copy Number AnalysisTHAP1 
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)8:42691817-42698474
Mutations and Diseases : HGMDTHAP1
OMIM602629    609520   
MedgenTHAP1
NextProtQ9NVV9 [Medical]
GENETestsTHAP1
Disease Genetic AssociationTHAP1
Huge Navigator THAP1 [HugePedia]  THAP1 [HugeCancerGEM]
snp3D : Map Gene to Disease55145
DGIdb (Drug Gene Interaction db)THAP1
General knowledge
Homologs : HomoloGeneTHAP1
Homology/Alignments : Family Browser (UCSC)THAP1
Phylogenetic Trees/Animal Genes : TreeFamTHAP1
Chemical/Protein Interactions : CTD55145
Chemical/Pharm GKB GenePA134920361
Clinical trialTHAP1
Cancer Resource (Charite)ENSG00000131931
Other databases
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
CoreMineTHAP1
GoPubMedTHAP1
iHOPTHAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:54:16 CET 2014

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