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YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon)

Identity

Other names14-3-3E
HEL2
KCIP-1
MDCR
MDS
HGNC (Hugo) YWHAE
LocusID (NCBI) 7531
Atlas_Id 42859
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 1247834 and ends at 1303556 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABR (17p13.3) / YWHAE (17p13.3)DAD1 (14q11.2) / YWHAE (17p13.3)FADS1 (11q12.2) / YWHAE (17p13.3)
HNRNPU (1q44) / YWHAE (17p13.3)KIF1B (1p36.22) / YWHAE (17p13.3)NUTM2A (10q23.2) / YWHAE (17p13.3)
NUTM2B (10q22.3) / YWHAE (17p13.3)PCBP2 (12q13.13) / YWHAE (17p13.3)VPS53 (17p13.3) / YWHAE (17p13.3)
YWHAE (17p13.3) / LIPF (10q23.31)YWHAE (17p13.3) / NUTM2A (10q23.2)YWHAE (17p13.3) / NUTM2A-AS1 (10q23.2)
YWHAE (17p13.3) / NUTM2B (10q22.3)YWHAE (17p13.3) / NUTM2E ()YWHAE (17p13.3) / PITPNA (17p13.3)
YWHAE (17p13.3) / ROS1 (6q22.1)YWHAE (17p13.3) / SLC43A2 (17p13.3)YWHAE 17p13.3 FAM22B
ABR 17p13.3 / YWHAE 17p13.3PCBP2 12q13.13 / YWHAE 17p13.3YWHAE 17p13.3 / SLC43A2 17p13.3

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Uterus: High-grade endometrial stromal sarcoma with t(10;17)(q22-23;p13) YWHAE/NUTM2A-B
Kidney: Clear cell sarcoma with t(10;17)(q22;p13) YWHAE/NUTM2E

External links

Nomenclature
HGNC (Hugo)YWHAE   12851
Cards
Entrez_Gene (NCBI)YWHAE  7531  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Aliases14-3-3E; HEL2; KCIP-1; MDCR; 
MDS
GeneCards (Weizmann)YWHAE
Ensembl hg19 (Hinxton)ENSG00000108953 [Gene_View]  chr17:1247834-1303556 [Contig_View]  YWHAE [Vega]
Ensembl hg38 (Hinxton)ENSG00000108953 [Gene_View]  chr17:1247834-1303556 [Contig_View]  YWHAE [Vega]
ICGC DataPortalENSG00000108953
TCGA cBioPortalYWHAE
AceView (NCBI)YWHAE
Genatlas (Paris)YWHAE
WikiGenes7531
SOURCE (Princeton)YWHAE
Genomic and cartography
GoldenPath hg19 (UCSC)YWHAE  -     chr17:1247834-1303556 -  17p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)YWHAE  -     17p13.3   [Description]    (hg38-Dec_2013)
EnsemblYWHAE - 17p13.3 [CytoView hg19]  YWHAE - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIYWHAE [Mapview hg19]  YWHAE [Mapview hg38]
OMIM605066   
Gene and transcription
Genbank (Entrez)AK128785 AK295260 AK295997 AK296050 AK296555
RefSeq transcript (Entrez)NM_006761
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_009233 NT_010718 NT_187613 NW_004929405
Consensus coding sequences : CCDS (NCBI)YWHAE
Cluster EST : UnigeneHs.513851 [ NCBI ]
CGAP (NCI)Hs.513851
Alternative Splicing GalleryENSG00000108953
Gene ExpressionYWHAE [ NCBI-GEO ]   YWHAE [ EBI - ARRAY_EXPRESS ]   YWHAE [ SEEK ]   YWHAE [ MEM ]
Gene Expression Viewer (FireBrowse)YWHAE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7531
GTEX Portal (Tissue expression)YWHAE
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62258 (Uniprot)
NextProtP62258  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP62258
Splice isoforms : SwissVarP62258 (Swissvar)
PhosPhoSitePlusP62258
Domaine pattern : Prosite (Expaxy)1433_1 (PS00796)    1433_2 (PS00797)   
Domains : Interpro (EBI)14-3-3    14-3-3_CS    14-3-3_domain   
Domain families : Pfam (Sanger)3/14/2003 (PF00244)   
Domain families : Pfam (NCBI)pfam00244   
Domain families : Smart (EMBL)14_3_3 (SM00101)  
DMDM Disease mutations7531
Blocks (Seattle)YWHAE
PDB (SRS)2BR9    3UAL    3UBW   
PDB (PDBSum)2BR9    3UAL    3UBW   
PDB (IMB)2BR9    3UAL    3UBW   
PDB (RSDB)2BR9    3UAL    3UBW   
Structural Biology KnowledgeBase2BR9    3UAL    3UBW   
SCOP (Structural Classification of Proteins)2BR9    3UAL    3UBW   
CATH (Classification of proteins structures)2BR9    3UAL    3UBW   
SuperfamilyP62258
Human Protein AtlasENSG00000108953
Peptide AtlasP62258
HPRD05457
IPIIPI00000816   IPI00974544   
Protein Interaction databases
DIP (DOE-UCLA)P62258
IntAct (EBI)P62258
FunCoupENSG00000108953
BioGRIDYWHAE
STRING (EMBL)YWHAE
ZODIACYWHAE
Ontologies - Pathways
QuickGOP62258
Ontology : AmiGOG2/M transition of mitotic cell cycle  neuron migration  regulation of heart rate by hormone  protein binding  mitochondrion  cytosol  kinesin complex  focal adhesion  protein targeting  potassium channel regulator activity  membrane  viral process  enzyme binding  protein domain specific binding  substantia nigra development  hippocampus development  cerebral cortex development  MHC class II protein complex binding  axon  cytoplasmic vesicle membrane  ubiquitin protein ligase binding  hippo signaling  intracellular signal transduction  melanosome  histone deacetylase binding  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  ion channel binding  poly(A) RNA binding  protein heterodimerization activity  phosphoserine binding  phosphoprotein binding  regulation of membrane repolarization  membrane organization  extracellular exosome  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  regulation of cellular response to heat  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  regulation of potassium ion transmembrane transporter activity  negative regulation of peptidyl-serine dephosphorylation  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  neuron migration  regulation of heart rate by hormone  protein binding  mitochondrion  cytosol  kinesin complex  focal adhesion  protein targeting  potassium channel regulator activity  membrane  viral process  enzyme binding  protein domain specific binding  substantia nigra development  hippocampus development  cerebral cortex development  MHC class II protein complex binding  axon  cytoplasmic vesicle membrane  ubiquitin protein ligase binding  hippo signaling  intracellular signal transduction  melanosome  histone deacetylase binding  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  ion channel binding  poly(A) RNA binding  protein heterodimerization activity  phosphoserine binding  phosphoprotein binding  regulation of membrane repolarization  membrane organization  extracellular exosome  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  regulation of cellular response to heat  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  regulation of potassium ion transmembrane transporter activity  negative regulation of peptidyl-serine dephosphorylation  
Pathways : KEGGCell cycle    Oocyte meiosis    PI3K-Akt signaling pathway    Hippo signaling pathway    Neurotrophin signaling pathway    Epstein-Barr virus infection    Viral carcinogenesis   
NDEx Network
Atlas of Cancer Signalling NetworkYWHAE
Wikipedia pathwaysYWHAE
Orthology - Evolution
OrthoDB7531
GeneTree (enSembl)ENSG00000108953
Phylogenetic Trees/Animal Genes : TreeFamYWHAE
Homologs : HomoloGeneYWHAE
Homology/Alignments : Family Browser (UCSC)YWHAE
Gene fusions - Rearrangements
Fusion: TCGAABR 17p13.3 YWHAE 17p13.3 LGG
Fusion: TCGAPCBP2 12q13.13 YWHAE 17p13.3 BLCA
Fusion: TCGAYWHAE 17p13.3 SLC43A2 17p13.3 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerYWHAE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)YWHAE
dbVarYWHAE
ClinVarYWHAE
1000_GenomesYWHAE 
Exome Variant ServerYWHAE
ExAC (Exome Aggregation Consortium)YWHAE (select the gene name)
Genetic variants : HAPMAP7531
Genomic Variants (DGV)YWHAE [DGVbeta]
Mutations
ICGC Data PortalYWHAE 
TCGA Data PortalYWHAE 
Broad Tumor PortalYWHAE
OASIS PortalYWHAE [ Somatic mutations - Copy number]
Cancer Gene: CensusYWHAE 
Somatic Mutations in Cancer : COSMICYWHAE 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch YWHAE
DgiDB (Drug Gene Interaction Database)YWHAE
DoCM (Curated mutations)YWHAE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)YWHAE (select a term)
intoGenYWHAE
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:1247834-1303556  ENSG00000108953
CONAN: Copy Number AnalysisYWHAE 
Mutations and Diseases : HGMDYWHAE
OMIM605066   
MedgenYWHAE
Genetic Testing Registry YWHAE
NextProtP62258 [Medical]
TSGene7531
GENETestsYWHAE
Huge Navigator YWHAE [HugePedia]
snp3D : Map Gene to Disease7531
BioCentury BCIQYWHAE
ClinGenYWHAE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7531
Chemical/Pharm GKB GenePA37440
Clinical trialYWHAE
Miscellaneous
canSAR (ICR)YWHAE (select the gene name)
Probes
Litterature
PubMed280 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineYWHAE
EVEXYWHAE
GoPubMedYWHAE
iHOPYWHAE
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 Aug 9 19:11:24 CEST 2016

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