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YWHAQ (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta)

Identity

Alias_namestyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide
protein, theta
Alias_symbol (synonym)HS1
14-3-3
Other alias1C5
HGNC (Hugo) YWHAQ
LocusID (NCBI) 10971
Atlas_Id 49987
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 9583967 and ends at 9631055 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADAM17 (2p25.1) / YWHAQ (2p25.1)YWHAQ (2p25.1) / AKIRIN1 (1p34.3)YWHAQ (2p25.1) / DDX5 (17q23.3)
YWHAQ (2p25.1) / ENPP3 (6q23.2)YWHAQ (2p25.1) / SFRP1 (8p11.21)YWHAQ (2p25.1) / TDG (12q23.3)
ADAM17 2p25.1 / YWHAQ 2p25.1

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  ADAM17/YWHAQ (2p25)

External links

Nomenclature
HGNC (Hugo)YWHAQ   12854
Cards
Entrez_Gene (NCBI)YWHAQ  10971  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta
Aliases14-3-3; 1C5; HS1
GeneCards (Weizmann)YWHAQ
Ensembl hg19 (Hinxton)ENSG00000134308 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134308 [Gene_View]  ENSG00000134308 [Sequence]  chr2:9583967-9631055 [Contig_View]  YWHAQ [Vega]
ICGC DataPortalENSG00000134308
TCGA cBioPortalYWHAQ
AceView (NCBI)YWHAQ
Genatlas (Paris)YWHAQ
WikiGenes10971
SOURCE (Princeton)YWHAQ
Genetics Home Reference (NIH)YWHAQ
Genomic and cartography
GoldenPath hg38 (UCSC)YWHAQ  -     chr2:9583967-9631055 -  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)YWHAQ  -     22q12.3   [Description]    (hg19-Feb_2009)
EnsemblYWHAQ - 22q12.3 [CytoView hg19]  YWHAQ - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBIYWHAQ [Mapview hg19]  YWHAQ [Mapview hg38]
OMIM609009   
Gene and transcription
Genbank (Entrez)AA729400 AF070556 AK297624 AK302208 AK309462
RefSeq transcript (Entrez)NM_006826
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)YWHAQ
Cluster EST : UnigeneHs.74405 [ NCBI ]
CGAP (NCI)Hs.74405
Alternative Splicing GalleryENSG00000134308
Gene ExpressionYWHAQ [ NCBI-GEO ]   YWHAQ [ EBI - ARRAY_EXPRESS ]   YWHAQ [ SEEK ]   YWHAQ [ MEM ]
Gene Expression Viewer (FireBrowse)YWHAQ [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10971
GTEX Portal (Tissue expression)YWHAQ
Human Protein AtlasENSG00000134308-YWHAQ [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27348   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP27348  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP27348
Splice isoforms : SwissVarP27348
PhosPhoSitePlusP27348
Domaine pattern : Prosite (Expaxy)1433_1 (PS00796)    1433_2 (PS00797)   
Domains : Interpro (EBI)14-3-3    14-3-3_CS    14-3-3_dom_sf    14-3-3_domain   
Domain families : Pfam (Sanger)14-3-3 (PF00244)   
Domain families : Pfam (NCBI)pfam00244   
Domain families : Smart (EMBL)14_3_3 (SM00101)  
Conserved Domain (NCBI)YWHAQ
DMDM Disease mutations10971
Blocks (Seattle)YWHAQ
PDB (SRS)2BTP    5IQP   
PDB (PDBSum)2BTP    5IQP   
PDB (IMB)2BTP    5IQP   
PDB (RSDB)2BTP    5IQP   
Structural Biology KnowledgeBase2BTP    5IQP   
SCOP (Structural Classification of Proteins)2BTP    5IQP   
CATH (Classification of proteins structures)2BTP    5IQP   
SuperfamilyP27348
Human Protein Atlas [tissue]ENSG00000134308-YWHAQ [tissue]
Peptide AtlasP27348
HPRD00886
IPIIPI00018146   IPI01014338   IPI00796727   
Protein Interaction databases
DIP (DOE-UCLA)P27348
IntAct (EBI)P27348
FunCoupENSG00000134308
BioGRIDYWHAQ
STRING (EMBL)YWHAQ
ZODIACYWHAQ
Ontologies - Pathways
QuickGOP27348
Ontology : AmiGOprotein binding  cytoplasm  mitochondrion  cytosol  focal adhesion  membrane  protein domain specific binding  substantia nigra development  protein-containing complex  identical protein binding  negative regulation of transcription, DNA-templated  protein N-terminus binding  membrane organization  extracellular exosome  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  
Ontology : EGO-EBIprotein binding  cytoplasm  mitochondrion  cytosol  focal adhesion  membrane  protein domain specific binding  substantia nigra development  protein-containing complex  identical protein binding  negative regulation of transcription, DNA-templated  protein N-terminus binding  membrane organization  extracellular exosome  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  
Pathways : KEGGCell cycle    Oocyte meiosis    PI3K-Akt signaling pathway    Hippo signaling pathway    Pathogenic Escherichia coli infection    Hepatitis B    Epstein-Barr virus infection    Viral carcinogenesis   
NDEx NetworkYWHAQ
Atlas of Cancer Signalling NetworkYWHAQ
Wikipedia pathwaysYWHAQ
Orthology - Evolution
OrthoDB10971
GeneTree (enSembl)ENSG00000134308
Phylogenetic Trees/Animal Genes : TreeFamYWHAQ
HOVERGENP27348
HOGENOMP27348
Homologs : HomoloGeneYWHAQ
Homology/Alignments : Family Browser (UCSC)YWHAQ
Gene fusions - Rearrangements
Fusion : MitelmanADAM17/YWHAQ [2p25.1/2p25.1]  [t(2;2)(p25;p25)]  
Fusion PortalADAM17 2p25.1 YWHAQ 2p25.1 GBM
Fusion : QuiverYWHAQ
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerYWHAQ [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)YWHAQ
dbVarYWHAQ
ClinVarYWHAQ
1000_GenomesYWHAQ 
Exome Variant ServerYWHAQ
ExAC (Exome Aggregation Consortium)ENSG00000134308
GNOMAD BrowserENSG00000134308
Varsome BrowserYWHAQ
Genetic variants : HAPMAP10971
Genomic Variants (DGV)YWHAQ [DGVbeta]
DECIPHERYWHAQ [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisYWHAQ 
Mutations
ICGC Data PortalYWHAQ 
TCGA Data PortalYWHAQ 
Broad Tumor PortalYWHAQ
OASIS PortalYWHAQ [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICYWHAQ  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDYWHAQ
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch YWHAQ
DgiDB (Drug Gene Interaction Database)YWHAQ
DoCM (Curated mutations)YWHAQ (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)YWHAQ (select a term)
intoGenYWHAQ
Cancer3DYWHAQ(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609009   
Orphanet
DisGeNETYWHAQ
MedgenYWHAQ
Genetic Testing Registry YWHAQ
NextProtP27348 [Medical]
TSGene10971
GENETestsYWHAQ
Target ValidationYWHAQ
Huge Navigator YWHAQ [HugePedia]
snp3D : Map Gene to Disease10971
BioCentury BCIQYWHAQ
ClinGenYWHAQ
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10971
Chemical/Pharm GKB GenePA37443
Clinical trialYWHAQ
Miscellaneous
canSAR (ICR)YWHAQ (select the gene name)
Probes
Litterature
PubMed336 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineYWHAQ
EVEXYWHAQ
GoPubMedYWHAQ
iHOPYWHAQ
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Aug 16 11:42:13 CEST 2018
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