Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KIAA0196 (KIAA0196)

Identity

Other namesRTSC
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)

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 [ SEEK ]   KIAA0196 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12768 (Uniprot)
NextProtQ12768  [Medical]
With graphics : InterProQ12768
Splice isoforms : SwissVarQ12768 (Swissvar)
Domains : Interpro (EBI)WASH_strumpellin   
Related proteins : CluSTrQ12768
Domain families : Pfam (Sanger)Strumpellin (PF10266)   
Domain families : Pfam (NCBI)pfam10266   
DMDM Disease mutations9897
Blocks (Seattle)Q12768
Human Protein AtlasENSG00000164961
Peptide AtlasQ12768
HPRD13786
IPIIPI00029175   IPI00976079   IPI00976414   IPI00977066   
Protein Interaction databases
DIP (DOE-UCLA)Q12768
IntAct (EBI)Q12768
FunCoupENSG00000164961
BioGRIDKIAA0196
IntegromeDBKIAA0196
STRING (EMBL)KIAA0196
Ontologies - Pathways
QuickGOQ12768
Ontology : AmiGOprotein binding  early endosome  endoplasmic reticulum  cytosol  protein transport  endosomal transport  WASH complex  
Ontology : EGO-EBIprotein binding  early endosome  endoplasmic reticulum  cytosol  protein transport  endosomal transport  WASH complex  
Protein Interaction DatabaseKIAA0196
DoCM (Curated mutations)KIAA0196
Wikipedia pathwaysKIAA0196
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerKIAA0196 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA0196
dbVarKIAA0196
ClinVarKIAA0196
1000_GenomesKIAA0196 
Exome Variant ServerKIAA0196
SNP (GeneSNP Utah)KIAA0196
SNP : HGBaseKIAA0196
Genetic variants : HAPMAPKIAA0196
Genomic Variants (DGV)KIAA0196 [DGVbeta]
Mutations
ICGC Data PortalKIAA0196 
TCGA Data PortalKIAA0196 
Tumor PortalKIAA0196
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
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
NextProtQ12768 [Medical]
GENETestsKIAA0196
Disease Genetic AssociationKIAA0196
Huge Navigator KIAA0196 [HugePedia]  KIAA0196 [HugeCancerGEM]
snp3D : Map Gene to Disease9897
DGIdb (Drug Gene Interaction db)KIAA0196
General knowledge
Homologs : HomoloGeneKIAA0196
Homology/Alignments : Family Browser (UCSC)KIAA0196
Phylogenetic Trees/Animal Genes : TreeFamKIAA0196
Chemical/Protein Interactions : CTD9897
Chemical/Pharm GKB GenePA142671624
Clinical trialKIAA0196
Cancer Resource (Charite)ENSG00000164961
Other databases
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
CoreMineKIAA0196
GoPubMedKIAA0196
iHOPKIAA0196
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 19:30:30 CEST 2015

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