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KIAA0196 (KIAA0196)

Identity

Other namesRTSC
RTSC1
SPG8
HGNC (Hugo) KIAA0196
LocusID (NCBI) 9897
Atlas_Id 45902
Location 8q24.13
Location_base_pair Starts at 126036503 and ends at 126104061 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MTSS1 (8q24.13) / KIAA0196 (8q24.13)

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)KIAA0196   28984
Cards
Entrez_Gene (NCBI)KIAA0196  9897  KIAA0196
GeneCards (Weizmann)KIAA0196
Ensembl hg19 (Hinxton)ENSG00000164961 [Gene_View]  chr8:126036503-126104061 [Contig_View]  KIAA0196 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164961 [Gene_View]  chr8:126036503-126104061 [Contig_View]  KIAA0196 [Vega]
ICGC DataPortalENSG00000164961
TCGA cBioPortalKIAA0196
AceView (NCBI)KIAA0196
Genatlas (Paris)KIAA0196
WikiGenes9897
SOURCE (Princeton)KIAA0196
Genomic and cartography
GoldenPath hg19 (UCSC)KIAA0196  -     chr8:126036503-126104061 -  8q24.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIAA0196  -     8q24.13   [Description]    (hg38-Dec_2013)
EnsemblKIAA0196 - 8q24.13 [CytoView hg19]  KIAA0196 - 8q24.13 [CytoView hg38]
Mapping of homologs : NCBIKIAA0196 [Mapview hg19]  KIAA0196 [Mapview hg38]
OMIM220210   603563   610657   
Gene and transcription
Genbank (Entrez)AI266595 AK223628 AK291032 AK296970 BC026951
RefSeq transcript (Entrez)NM_014846
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_012636 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)KIAA0196
Cluster EST : UnigeneHs.270043 [ NCBI ]
CGAP (NCI)Hs.270043
Alternative Splicing : Fast-db (Paris)GSHG0029847
Alternative Splicing GalleryENSG00000164961
Gene ExpressionKIAA0196 [ NCBI-GEO ]   KIAA0196 [ EBI - ARRAY_EXPRESS ]   KIAA0196 [ SEEK ]   KIAA0196 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA0196 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)9897
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12768 (Uniprot)
NextProtQ12768  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12768
Splice isoforms : SwissVarQ12768 (Swissvar)
PhosPhoSitePlusQ12768
Domains : Interpro (EBI)WASH_strumpellin   
Domain families : Pfam (Sanger)Strumpellin (PF10266)   
Domain families : Pfam (NCBI)pfam10266   
DMDM Disease mutations9897
Blocks (Seattle)KIAA0196
SuperfamilyQ12768
Human Protein AtlasENSG00000164961
Peptide AtlasQ12768
HPRD13786
IPIIPI00029175   IPI00976079   IPI00976414   IPI00977066   
Protein Interaction databases
DIP (DOE-UCLA)Q12768
IntAct (EBI)Q12768
FunCoupENSG00000164961
BioGRIDKIAA0196
STRING (EMBL)KIAA0196
ZODIACKIAA0196
Ontologies - Pathways
QuickGOQ12768
Ontology : AmiGOoocyte maturation  protein binding  early endosome  endoplasmic reticulum  cytosol  protein transport  endosomal transport  polar body extrusion after meiotic divisions  WASH complex  spindle assembly involved in meiosis  
Ontology : EGO-EBIoocyte maturation  protein binding  early endosome  endoplasmic reticulum  cytosol  protein transport  endosomal transport  polar body extrusion after meiotic divisions  WASH complex  spindle assembly involved in meiosis  
NDEx Network
Atlas of Cancer Signalling NetworkKIAA0196
Wikipedia pathwaysKIAA0196
Orthology - Evolution
OrthoDB9897
GeneTree (enSembl)ENSG00000164961
Phylogenetic Trees/Animal Genes : TreeFamKIAA0196
Homologs : HomoloGeneKIAA0196
Homology/Alignments : Family Browser (UCSC)KIAA0196
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerKIAA0196 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA0196
dbVarKIAA0196
ClinVarKIAA0196
1000_GenomesKIAA0196 
Exome Variant ServerKIAA0196
ExAC (Exome Aggregation Consortium)KIAA0196 (select the gene name)
SNP (GeneSNP Utah)KIAA0196
SNP : HGBaseKIAA0196
Genetic variants : HAPMAPKIAA0196
Genomic Variants (DGV)KIAA0196 [DGVbeta]
Mutations
ICGC Data PortalKIAA0196 
TCGA Data PortalKIAA0196 
Broad Tumor PortalKIAA0196
OASIS PortalKIAA0196 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA0196 
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch KIAA0196
DgiDB (Drug Gene Interaction Database)KIAA0196
DoCM (Curated mutations)KIAA0196 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA0196 (select a term)
intoGenKIAA0196
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:126036503-126104061
CONAN: Copy Number AnalysisKIAA0196 
Mutations and Diseases : HGMDKIAA0196
OMIM220210    603563    610657   
MedgenKIAA0196
Genetic Testing Registry KIAA0196
NextProtQ12768 [Medical]
TSGene9897
GENETestsKIAA0196
Huge Navigator KIAA0196 [HugePedia]  KIAA0196 [HugeCancerGEM]
snp3D : Map Gene to Disease9897
BioCentury BCIQKIAA0196
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9897
Chemical/Pharm GKB GenePA142671624
Clinical trialKIAA0196
Miscellaneous
canSAR (ICR)KIAA0196 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA0196
GoPubMedKIAA0196
iHOPKIAA0196
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Apr 16 17:50:00 CEST 2016

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