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KIAA0513 (KIAA0513)

Identity

Other alias-
HGNC (Hugo) KIAA0513
LocusID (NCBI) 9764
Atlas_Id 64859
Location 16q24.1  [Link to chromosome band 16q24]
Location_base_pair Starts at 85063212 and ends at 85094222 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)
GSE1 (16q24.1) / KIAA0513 (16q24.1)

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 ]
  t(16;16)(q24;q24) GSE1/KIAA0513

External links

Nomenclature
HGNC (Hugo)KIAA0513   29058
Cards
Entrez_Gene (NCBI)KIAA0513  9764  KIAA0513
Aliases
GeneCards (Weizmann)KIAA0513
Ensembl hg19 (Hinxton)ENSG00000135709 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135709 [Gene_View]  chr16:85063212-85094222 [Contig_View]  KIAA0513 [Vega]
ICGC DataPortalENSG00000135709
TCGA cBioPortalKIAA0513
AceView (NCBI)KIAA0513
Genatlas (Paris)KIAA0513
WikiGenes9764
SOURCE (Princeton)KIAA0513
Genetics Home Reference (NIH)KIAA0513
Genomic and cartography
GoldenPath hg38 (UCSC)KIAA0513  -     chr16:85063212-85094222 +  16q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIAA0513  -     16q24.1   [Description]    (hg19-Feb_2009)
EnsemblKIAA0513 - 16q24.1 [CytoView hg19]  KIAA0513 - 16q24.1 [CytoView hg38]
Mapping of homologs : NCBIKIAA0513 [Mapview hg19]  KIAA0513 [Mapview hg38]
OMIM611675   
Gene and transcription
Genbank (Entrez)AB011085 AF055005 AK299892 BC030280 BU844795
RefSeq transcript (Entrez)NM_001286565 NM_001286566 NM_001297766 NM_014732
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIAA0513
Cluster EST : UnigeneHs.301658 [ NCBI ]
CGAP (NCI)Hs.301658
Alternative Splicing GalleryENSG00000135709
Gene ExpressionKIAA0513 [ NCBI-GEO ]   KIAA0513 [ EBI - ARRAY_EXPRESS ]   KIAA0513 [ SEEK ]   KIAA0513 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA0513 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9764
GTEX Portal (Tissue expression)KIAA0513
Human Protein AtlasENSG00000135709-KIAA0513 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60268   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60268  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60268
Splice isoforms : SwissVarO60268
PhosPhoSitePlusO60268
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)KIAA0513
DMDM Disease mutations9764
Blocks (Seattle)KIAA0513
SuperfamilyO60268
Human Protein Atlas [tissue]ENSG00000135709-KIAA0513 [tissue]
Peptide AtlasO60268
HPRD17192
IPIIPI00028516   IPI00455187   
Protein Interaction databases
DIP (DOE-UCLA)O60268
IntAct (EBI)O60268
FunCoupENSG00000135709
BioGRIDKIAA0513
STRING (EMBL)KIAA0513
ZODIACKIAA0513
Ontologies - Pathways
QuickGOO60268
Ontology : AmiGOcytoplasm  
Ontology : EGO-EBIcytoplasm  
NDEx NetworkKIAA0513
Atlas of Cancer Signalling NetworkKIAA0513
Wikipedia pathwaysKIAA0513
Orthology - Evolution
OrthoDB9764
GeneTree (enSembl)ENSG00000135709
Phylogenetic Trees/Animal Genes : TreeFamKIAA0513
HOVERGENO60268
HOGENOMO60268
Homologs : HomoloGeneKIAA0513
Homology/Alignments : Family Browser (UCSC)KIAA0513
Gene fusions - Rearrangements
Fusion : QuiverKIAA0513
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA0513 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA0513
dbVarKIAA0513
ClinVarKIAA0513
1000_GenomesKIAA0513 
Exome Variant ServerKIAA0513
ExAC (Exome Aggregation Consortium)ENSG00000135709
GNOMAD BrowserENSG00000135709
Genetic variants : HAPMAP9764
Genomic Variants (DGV)KIAA0513 [DGVbeta]
DECIPHERKIAA0513 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIAA0513 
Mutations
ICGC Data PortalKIAA0513 
TCGA Data PortalKIAA0513 
Broad Tumor PortalKIAA0513
OASIS PortalKIAA0513 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA0513  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA0513
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 KIAA0513
DgiDB (Drug Gene Interaction Database)KIAA0513
DoCM (Curated mutations)KIAA0513 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA0513 (select a term)
intoGenKIAA0513
Cancer3DKIAA0513(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611675   
Orphanet
DisGeNETKIAA0513
MedgenKIAA0513
Genetic Testing Registry KIAA0513
NextProtO60268 [Medical]
TSGene9764
GENETestsKIAA0513
Target ValidationKIAA0513
Huge Navigator KIAA0513 [HugePedia]
snp3D : Map Gene to Disease9764
BioCentury BCIQKIAA0513
ClinGenKIAA0513
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9764
Chemical/Pharm GKB GenePA134951520
Clinical trialKIAA0513
Miscellaneous
canSAR (ICR)KIAA0513 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA0513
EVEXKIAA0513
GoPubMedKIAA0513
iHOPKIAA0513
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:22:44 CET 2018
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