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ECPAS (KIAA0368)

Identity

Alias_symbol (synonym)FLJ22036
ECM29
Other alias
HGNC (Hugo) KIAA0368
LocusID (NCBI) 23392
Atlas_Id 53903
Location 9q31.3  [Link to chromosome band 9q31]
Location_base_pair Starts at 111360693 and ends at 111484745 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)
KIAA0368 9q31.3 / PACS1 11q13.1KIAA0368 9q31.3 / WNK2 9q22.31MRRF 9q33.2 / KIAA0368 9q31.3
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


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(9;9)(q22;q31) KIAA0368/WNK2
t(9;9)(q31;q33) MRRF/KIAA0368
t(9;11)(q31;q13) KIAA0368/PACS1


External links

Nomenclature
HGNC (Hugo)KIAA0368   29020
Cards
Entrez_Gene (NCBI)ECPAS  23392  KIAA0368
AliasesECM29
GeneCards (Weizmann)ECPAS
Ensembl hg19 (Hinxton)ENSG00000136813 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136813 [Gene_View]  ENSG00000136813 [Sequence]  chr9:111360693-111484745 [Contig_View]  ECPAS [Vega]
ICGC DataPortalENSG00000136813
TCGA cBioPortalECPAS
AceView (NCBI)ECPAS
Genatlas (Paris)ECPAS
WikiGenes23392
SOURCE (Princeton)ECPAS
Genetics Home Reference (NIH)ECPAS
Genomic and cartography
GoldenPath hg38 (UCSC)ECPAS  -     chr9:111360693-111484745 -  9q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ECPAS  -     9q31.3   [Description]    (hg19-Feb_2009)
EnsemblECPAS - 9q31.3 [CytoView hg19]  ECPAS - 9q31.3 [CytoView hg38]
Mapping of homologs : NCBIECPAS [Mapview hg19]  ECPAS [Mapview hg38]
OMIM616694   
Gene and transcription
Genbank (Entrez)AB002366 AF052139 AK024705 AK025689 AK027063
RefSeq transcript (Entrez)NM_001080398
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ECPAS
Cluster EST : UnigeneHs.368255 [ NCBI ]
CGAP (NCI)Hs.368255
Alternative Splicing GalleryENSG00000136813
Gene ExpressionECPAS [ NCBI-GEO ]   ECPAS [ EBI - ARRAY_EXPRESS ]   ECPAS [ SEEK ]   ECPAS [ MEM ]
Gene Expression Viewer (FireBrowse)ECPAS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23392
GTEX Portal (Tissue expression)ECPAS
Human Protein AtlasENSG00000136813-ECPAS [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VYK3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VYK3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VYK3
Splice isoforms : SwissVarQ5VYK3
PhosPhoSitePlusQ5VYK3
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Ecm29    Vac14_Fab1-bd   
Domain families : Pfam (Sanger)Ecm29 (PF13001)    Vac14_Fab1_bd (PF12755)   
Domain families : Pfam (NCBI)pfam13001    pfam12755   
Conserved Domain (NCBI)ECPAS
DMDM Disease mutations23392
Blocks (Seattle)ECPAS
SuperfamilyQ5VYK3
Human Protein Atlas [tissue]ENSG00000136813-ECPAS [tissue]
Peptide AtlasQ5VYK3
IPIIPI01015062   IPI00157790   IPI00639848   
Protein Interaction databases
DIP (DOE-UCLA)Q5VYK3
IntAct (EBI)Q5VYK3
FunCoupENSG00000136813
BioGRIDECPAS
STRING (EMBL)ECPAS
ZODIACECPAS
Ontologies - Pathways
QuickGOQ5VYK3
Ontology : AmiGOproteasome complex  molecular_function  protein binding  nucleus  early endosome  late endosome  multivesicular body  endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment  trans-Golgi network  centrosome  membrane  COPII-coated ER to Golgi transport vesicle  endocytic vesicle  ubiquitin-dependent ERAD pathway  cytoplasmic vesicle  protein complex scaffold activity  proteasome assembly  
Ontology : EGO-EBIproteasome complex  molecular_function  protein binding  nucleus  early endosome  late endosome  multivesicular body  endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment  trans-Golgi network  centrosome  membrane  COPII-coated ER to Golgi transport vesicle  endocytic vesicle  ubiquitin-dependent ERAD pathway  cytoplasmic vesicle  protein complex scaffold activity  proteasome assembly  
NDEx NetworkECPAS
Atlas of Cancer Signalling NetworkECPAS
Wikipedia pathwaysECPAS
Orthology - Evolution
OrthoDB23392
GeneTree (enSembl)ENSG00000136813
Phylogenetic Trees/Animal Genes : TreeFamKIAA0368
HOVERGENQ5VYK3
HOGENOMQ5VYK3
Homologs : HomoloGeneECPAS
Homology/Alignments : Family Browser (UCSC)ECPAS
Gene fusions - Rearrangements
Fusion : MitelmanKIAA0368/PACS1 [9q31.3/11q13.1]  
Fusion : MitelmanKIAA0368/WNK2 [9q31.3/9q22.31]  [t(9;9)(q22;q31)]  
Fusion : MitelmanMRRF/KIAA0368 [9q33.2/9q31.3]  [t(9;9)(q31;q33)]  
Fusion PortalKIAA0368 9q31.3 PACS1 11q13.1 BRCA
Fusion PortalKIAA0368 9q31.3 WNK2 9q22.31 BRCA
Fusion PortalMRRF 9q33.2 KIAA0368 9q31.3 LUSC
Fusion : QuiverECPAS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECPAS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECPAS
dbVarECPAS
ClinVarECPAS
1000_GenomesECPAS 
Exome Variant ServerECPAS
ExAC (Exome Aggregation Consortium)ENSG00000136813
GNOMAD BrowserENSG00000136813
Genetic variants : HAPMAP23392
Genomic Variants (DGV)ECPAS [DGVbeta]
DECIPHERECPAS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisECPAS 
Mutations
ICGC Data PortalKIAA0368 
TCGA Data PortalKIAA0368 
Broad Tumor PortalKIAA0368
OASIS PortalKIAA0368 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECPAS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA0368
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ECPAS
DgiDB (Drug Gene Interaction Database)ECPAS
DoCM (Curated mutations)ECPAS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECPAS (select a term)
intoGenECPAS
Cancer3DECPAS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616694   
Orphanet
DisGeNETECPAS
MedgenECPAS
Genetic Testing Registry ECPAS
NextProtQ5VYK3 [Medical]
TSGene23392
GENETestsECPAS
Target ValidationECPAS
Huge Navigator KIAA0368 [HugePedia]
snp3D : Map Gene to Disease23392
BioCentury BCIQECPAS
ClinGenECPAS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23392
Chemical/Pharm GKB GenePA134979723
Clinical trialECPAS
Miscellaneous
canSAR (ICR)ECPAS (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECPAS
EVEXECPAS
GoPubMedECPAS
iHOPECPAS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:32:02 CEST 2018

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