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CD3EAP (CD3e molecule associated protein)

Identity

Alias_namesCD3e antigen, epsilon polypeptide associated protein
CD3e molecule, epsilon associated protein
Alias_symbol (synonym)ASE-1
CAST
PAF49
Other aliasASE1
HGNC (Hugo) CD3EAP
LocusID (NCBI) 10849
Atlas_Id 50105
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 45406209 and ends at 45410766 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CD3EAP (19q13.32) / CD3EAP (19q13.32)CERCAM (9q34.11) / CD3EAP (19q13.32)NEK4 (3p21.1) / CD3EAP (19q13.32)
PDS5B (13q13.1) / CD3EAP (19q13.32)PKP2 (12p11.21) / CD3EAP (19q13.32)UQCC1 (20q11.22) / CD3EAP (19q13.32)
PDS5B 13q13.1 / CD3EAP 19q13.32

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)CD3EAP   24219
Cards
Entrez_Gene (NCBI)CD3EAP  10849  CD3e molecule associated protein
AliasesASE-1; ASE1; CAST; PAF49
GeneCards (Weizmann)CD3EAP
Ensembl hg19 (Hinxton)ENSG00000117877 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117877 [Gene_View]  chr19:45406209-45410766 [Contig_View]  CD3EAP [Vega]
ICGC DataPortalENSG00000117877
TCGA cBioPortalCD3EAP
AceView (NCBI)CD3EAP
Genatlas (Paris)CD3EAP
WikiGenes10849
SOURCE (Princeton)CD3EAP
Genetics Home Reference (NIH)CD3EAP
Genomic and cartography
GoldenPath hg38 (UCSC)CD3EAP  -     chr19:45406209-45410766 +  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CD3EAP  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblCD3EAP - 19q13.32 [CytoView hg19]  CD3EAP - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBICD3EAP [Mapview hg19]  CD3EAP [Mapview hg38]
OMIM107325   
Gene and transcription
Genbank (Entrez)AF017633 AK292183 BC009705 BC028109 BC038992
RefSeq transcript (Entrez)NM_001297590 NM_012099
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CD3EAP
Cluster EST : UnigeneHs.710495 [ NCBI ]
CGAP (NCI)Hs.710495
Alternative Splicing GalleryENSG00000117877
Gene ExpressionCD3EAP [ NCBI-GEO ]   CD3EAP [ EBI - ARRAY_EXPRESS ]   CD3EAP [ SEEK ]   CD3EAP [ MEM ]
Gene Expression Viewer (FireBrowse)CD3EAP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10849
GTEX Portal (Tissue expression)CD3EAP
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15446   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15446  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15446
Splice isoforms : SwissVarO15446
PhosPhoSitePlusO15446
Domains : Interpro (EBI)DNA-dir_RNA_pol1_su_RPA34   
Domain families : Pfam (Sanger)RNA_polI_A34 (PF08208)   
Domain families : Pfam (NCBI)pfam08208   
Conserved Domain (NCBI)CD3EAP
DMDM Disease mutations10849
Blocks (Seattle)CD3EAP
SuperfamilyO15446
Human Protein AtlasENSG00000117877
Peptide AtlasO15446
HPRD00125
IPIIPI00645816   IPI00012788   
Protein Interaction databases
DIP (DOE-UCLA)O15446
IntAct (EBI)O15446
FunCoupENSG00000117877
BioGRIDCD3EAP
STRING (EMBL)CD3EAP
ZODIACCD3EAP
Ontologies - Pathways
QuickGOO15446
Ontology : AmiGORNA polymerase I transcription factor complex  fibrillar center  RNA binding  DNA-directed 5'-3' RNA polymerase activity  nucleus  nucleoplasm  chromosome  nucleolus  DNA-directed RNA polymerase I complex  mitochondrion  cytosol  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transmembrane receptor protein tyrosine kinase signaling pathway  rRNA transcription  positive regulation of gene expression, epigenetic  
Ontology : EGO-EBIRNA polymerase I transcription factor complex  fibrillar center  RNA binding  DNA-directed 5'-3' RNA polymerase activity  nucleus  nucleoplasm  chromosome  nucleolus  DNA-directed RNA polymerase I complex  mitochondrion  cytosol  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transmembrane receptor protein tyrosine kinase signaling pathway  rRNA transcription  positive regulation of gene expression, epigenetic  
NDEx NetworkCD3EAP
Atlas of Cancer Signalling NetworkCD3EAP
Wikipedia pathwaysCD3EAP
Orthology - Evolution
OrthoDB10849
GeneTree (enSembl)ENSG00000117877
Phylogenetic Trees/Animal Genes : TreeFamCD3EAP
HOVERGENO15446
HOGENOMO15446
Homologs : HomoloGeneCD3EAP
Homology/Alignments : Family Browser (UCSC)CD3EAP
Gene fusions - Rearrangements
Fusion : MitelmanPDS5B/CD3EAP [13q13.1/19q13.32]  [t(13;19)(q13;q13)]  
Fusion: TCGAPDS5B 13q13.1 CD3EAP 19q13.32 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCD3EAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CD3EAP
dbVarCD3EAP
ClinVarCD3EAP
1000_GenomesCD3EAP 
Exome Variant ServerCD3EAP
ExAC (Exome Aggregation Consortium)CD3EAP (select the gene name)
Genetic variants : HAPMAP10849
Genomic Variants (DGV)CD3EAP [DGVbeta]
DECIPHERCD3EAP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCD3EAP 
Mutations
ICGC Data PortalCD3EAP 
TCGA Data PortalCD3EAP 
Broad Tumor PortalCD3EAP
OASIS PortalCD3EAP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCD3EAP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCD3EAP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CD3EAP
DgiDB (Drug Gene Interaction Database)CD3EAP
DoCM (Curated mutations)CD3EAP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CD3EAP (select a term)
intoGenCD3EAP
Cancer3DCD3EAP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107325   
Orphanet
MedgenCD3EAP
Genetic Testing Registry CD3EAP
NextProtO15446 [Medical]
TSGene10849
GENETestsCD3EAP
Target ValidationCD3EAP
Huge Navigator CD3EAP [HugePedia]
snp3D : Map Gene to Disease10849
BioCentury BCIQCD3EAP
ClinGenCD3EAP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10849
Chemical/Pharm GKB GenePA142672156
Clinical trialCD3EAP
Miscellaneous
canSAR (ICR)CD3EAP (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCD3EAP
EVEXCD3EAP
GoPubMedCD3EAP
iHOPCD3EAP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:27:27 CEST 2017

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