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PJVK (pejvakin)

Identity

Alias_namesDFNB59
deafness, autosomal recessive 59
Other alias
HGNC (Hugo) PJVK
LocusID (NCBI) 494513
Atlas_Id 79555
Location 2q31.2  [Link to chromosome band 2q31]
Location_base_pair Starts at 178451436 and ends at 178461383 bp from pter ( according tn hg³8-@ec_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)
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


External links

Nomenclature
HGNC (Hugo)PJVK   29502
Cards
Entrez_Gene (NCBI)PJVK  494513  pejvakin
AliasesDFNB59
GeneCards (Weizmann)PJVK
Ensembl hg19 (Hinxton)ENSG00000204311 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204311 [Gene_View]  chr2:178451436-178461383 [Contig_View]  PJVK [Vega]
ICGC DataPortalENSG00000204311
TCGA cBioPortalPJVK
AceView (NCBI)PJVK
Genatlas (Paris)PJVK
WikiGenes494513
SOURCE (Princeton)PJVK
Genetics Home Reference (NIH)PJVK
Genomic and cartography
GoldenPath hg38 (UCSC)PJVK  -     chr2:178451436-178461383 +  2q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PJVK  -     2q31.2   [Description]    (hg19-Feb_2009)
EnsemblPJVK - 2q31.2 [CytoView hg19]  PJVK - 2q31.2 [CytoView hg38]
Mapping of homologs : NCBIPJVK [Mapview hg19]  PJVK [Mapview hg38]
OMIM610219   610220   
Gene and transcription
Genbank (Entrez)AW006294 BC020859 BC127902 BC127903 BC146938
RefSeq transcript (Entrez)NM_001042702 NM_001353775 NM_001353776 NM_001353777 NM_001353778
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PJVK
Cluster EST : UnigeneHs.87734 [ NCBI ]
CGAP (NCI)Hs.87734
Alternative Splicing GalleryENSG00000204311
Gene ExpressionPJVK [ NCBI-GEO ]   PJVK [ EBI - ARRAY_EXPRESS ]   PJVK [ SEEK ]   PJVK [ MEM ]
Gene Expression Viewer (FireBrowse)PJVK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)494513
GTEX Portal (Tissue expression)PJVK
Human Protein AtlasENSG00000204311-PJVK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ0ZLH3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ0ZLH3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ0ZLH3
Splice isoforms : SwissVarQ0ZLH3
PhosPhoSitePlusQ0ZLH3
Domains : Interpro (EBI)Gasdermin   
Domain families : Pfam (Sanger)Gasdermin (PF04598)   
Domain families : Pfam (NCBI)pfam04598   
Conserved Domain (NCBI)PJVK
DMDM Disease mutations494513
Blocks (Seattle)PJVK
SuperfamilyQ0ZLH3
Human Protein Atlas [tissue]ENSG00000204311-PJVK [tissue]
Peptide AtlasQ0ZLH3
IPIIPI00746516   IPI00917351   IPI00917692   
Protein Interaction databases
DIP (DOE-UCLA)Q0ZLH3
IntAct (EBI)Q0ZLH3
FunCoupENSG00000204311
BioGRIDPJVK
STRING (EMBL)PJVK
ZODIACPJVK
Ontologies - Pathways
QuickGOQ0ZLH3
Ontology : AmiGOsensory perception of sound  neuronal cell body  
Ontology : EGO-EBIsensory perception of sound  neuronal cell body  
NDEx NetworkPJVK
Atlas of Cancer Signalling NetworkPJVK
Wikipedia pathwaysPJVK
Orthology - Evolution
OrthoDB494513
GeneTree (enSembl)ENSG00000204311
Phylogenetic Trees/Animal Genes : TreeFamPJVK
HOVERGENQ0ZLH3
HOGENOMQ0ZLH3
Homologs : HomoloGenePJVK
Homology/Alignments : Family Browser (UCSC)PJVK
Gene fusions - Rearrangements
Tumor Fusion PortalPJVK
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPJVK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PJVK
dbVarPJVK
ClinVarPJVK
1000_GenomesPJVK 
Exome Variant ServerPJVK
ExAC (Exome Aggregation Consortium)ENSG00000204311
GNOMAD BrowserENSG00000204311
Genetic variants : HAPMAP494513
Genomic Variants (DGV)PJVK [DGVbeta]
DECIPHERPJVK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPJVK 
Mutations
ICGC Data PortalPJVK 
TCGA Data PortalPJVK 
Broad Tumor PortalPJVK
OASIS PortalPJVK [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPJVK
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
BioMutasearch PJVK
DgiDB (Drug Gene Interaction Database)PJVK
DoCM (Curated mutations)PJVK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PJVK (select a term)
intoGenPJVK
Cancer3DPJVK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610219    610220   
Orphanet
DisGeNETPJVK
MedgenPJVK
Genetic Testing Registry PJVK
NextProtQ0ZLH3 [Medical]
TSGene494513
GENETestsPJVK
Target ValidationPJVK
Huge Navigator PJVK [HugePedia]
snp3D : Map Gene to Disease494513
BioCentury BCIQPJVK
ClinGenPJVK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD494513
Chemical/Pharm GKB GenePA134927047
Clinical trialPJVK
Miscellaneous
canSAR (ICR)PJVK (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePJVK
EVEXPJVK
GoPubMedPJVK
iHOPPJVK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:06:01 CET 2017

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