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KIAA1462 (KIAA1462)

Identity

Alias_symbol (synonym)JCAD
Other alias
HGNC (Hugo) KIAA1462
LocusID (NCBI) 57608
Atlas_Id 64886
Location 10p11.23  [Link to chromosome band 10p11]
Location_base_pair Starts at 30301729 and ends at 30348488 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KIAA1462 (10p11.23) / KIAA1462 (10p11.23)KIAA1462 (10p11.23) / SRRT (7q22.1)NEMF (14q21.3) / KIAA1462 (10p11.23)
ST7 (7q31.2) / KIAA1462 (10p11.23)

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)KIAA1462   29283
Cards
Entrez_Gene (NCBI)KIAA1462  57608  KIAA1462
AliasesJCAD
GeneCards (Weizmann)KIAA1462
Ensembl hg19 (Hinxton)ENSG00000165757 [Gene_View]  chr10:30301729-30348488 [Contig_View]  KIAA1462 [Vega]
Ensembl hg38 (Hinxton)ENSG00000165757 [Gene_View]  chr10:30301729-30348488 [Contig_View]  KIAA1462 [Vega]
ICGC DataPortalENSG00000165757
TCGA cBioPortalKIAA1462
AceView (NCBI)KIAA1462
Genatlas (Paris)KIAA1462
WikiGenes57608
SOURCE (Princeton)KIAA1462
Genetics Home Reference (NIH)KIAA1462
Genomic and cartography
GoldenPath hg19 (UCSC)KIAA1462  -     chr10:30301729-30348488 -  10p11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIAA1462  -     10p11.23   [Description]    (hg38-Dec_2013)
EnsemblKIAA1462 - 10p11.23 [CytoView hg19]  KIAA1462 - 10p11.23 [CytoView hg38]
Mapping of homologs : NCBIKIAA1462 [Mapview hg19]  KIAA1462 [Mapview hg38]
OMIM614398   
Gene and transcription
Genbank (Entrez)AB040895 AK055602 AK074200 AK308850 AL050154
RefSeq transcript (Entrez)NM_020848
RefSeq genomic (Entrez)NC_000010 NC_018921 NT_008705 NW_004929370
Consensus coding sequences : CCDS (NCBI)KIAA1462
Cluster EST : UnigeneHs.533953 [ NCBI ]
CGAP (NCI)Hs.533953
Alternative Splicing GalleryENSG00000165757
Gene ExpressionKIAA1462 [ NCBI-GEO ]   KIAA1462 [ EBI - ARRAY_EXPRESS ]   KIAA1462 [ SEEK ]   KIAA1462 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA1462 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57608
GTEX Portal (Tissue expression)KIAA1462
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P266   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P266  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P266
Splice isoforms : SwissVarQ9P266
PhosPhoSitePlusQ9P266
Domains : Interpro (EBI)JCAD   
Domain families : Pfam (Sanger)JCAD (PF15351)   
Domain families : Pfam (NCBI)pfam15351   
Conserved Domain (NCBI)KIAA1462
DMDM Disease mutations57608
Blocks (Seattle)KIAA1462
SuperfamilyQ9P266
Human Protein AtlasENSG00000165757
Peptide AtlasQ9P266
IPIIPI00292817   
Protein Interaction databases
DIP (DOE-UCLA)Q9P266
IntAct (EBI)Q9P266
FunCoupENSG00000165757
BioGRIDKIAA1462
STRING (EMBL)KIAA1462
ZODIACKIAA1462
Ontologies - Pathways
QuickGOQ9P266
Ontology : AmiGOcell-cell junction  adherens junction  cell adhesion  
Ontology : EGO-EBIcell-cell junction  adherens junction  cell adhesion  
NDEx NetworkKIAA1462
Atlas of Cancer Signalling NetworkKIAA1462
Wikipedia pathwaysKIAA1462
Orthology - Evolution
OrthoDB57608
GeneTree (enSembl)ENSG00000165757
Phylogenetic Trees/Animal Genes : TreeFamKIAA1462
HOVERGENQ9P266
HOGENOMQ9P266
Homologs : HomoloGeneKIAA1462
Homology/Alignments : Family Browser (UCSC)KIAA1462
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA1462 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA1462
dbVarKIAA1462
ClinVarKIAA1462
1000_GenomesKIAA1462 
Exome Variant ServerKIAA1462
ExAC (Exome Aggregation Consortium)KIAA1462 (select the gene name)
Genetic variants : HAPMAP57608
Genomic Variants (DGV)KIAA1462 [DGVbeta]
DECIPHER (Syndromes)10:30301729-30348488  ENSG00000165757
CONAN: Copy Number AnalysisKIAA1462 
Mutations
ICGC Data PortalKIAA1462 
TCGA Data PortalKIAA1462 
Broad Tumor PortalKIAA1462
OASIS PortalKIAA1462 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA1462  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA1462
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 KIAA1462
DgiDB (Drug Gene Interaction Database)KIAA1462
DoCM (Curated mutations)KIAA1462 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA1462 (select a term)
intoGenKIAA1462
Cancer3DKIAA1462(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614398   
Orphanet
MedgenKIAA1462
Genetic Testing Registry KIAA1462
NextProtQ9P266 [Medical]
TSGene57608
GENETestsKIAA1462
Huge Navigator KIAA1462 [HugePedia]
snp3D : Map Gene to Disease57608
BioCentury BCIQKIAA1462
ClinGenKIAA1462
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57608
Chemical/Pharm GKB GenePA134955526
Clinical trialKIAA1462
Miscellaneous
canSAR (ICR)KIAA1462 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA1462
EVEXKIAA1462
GoPubMedKIAA1462
iHOPKIAA1462
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:09:46 CET 2017

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