Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

WASHC5 (KIAA0196)

Identity

Alias_namesSPG8
spastic paraplegia 8 (autosomal dominant)
Other aliasRTSC
RTSC1
HGNC (Hugo) KIAA0196
LocusID (NCBI) 9897
Atlas_Id 45902
Location 8q24.13  [Link to chromosome band 8q24]
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


External links

Nomenclature
HGNC (Hugo)KIAA0196   28984
Cards
Entrez_Gene (NCBI)WASHC5  9897  KIAA0196
AliasesRTSC; RTSC1; SPG8
GeneCards (Weizmann)WASHC5
Ensembl hg19 (Hinxton)ENSG00000164961 [Gene_View]  chr8:126036503-126104061 [Contig_View]  WASHC5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164961 [Gene_View]  chr8:126036503-126104061 [Contig_View]  WASHC5 [Vega]
ICGC DataPortalENSG00000164961
TCGA cBioPortalWASHC5
AceView (NCBI)WASHC5
Genatlas (Paris)WASHC5
WikiGenes9897
SOURCE (Princeton)WASHC5
Genetics Home Reference (NIH)WASHC5
Genomic and cartography
GoldenPath hg19 (UCSC)WASHC5  -     chr8:126036503-126104061 -  8q24.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)WASHC5  -     8q24.13   [Description]    (hg38-Dec_2013)
EnsemblWASHC5 - 8q24.13 [CytoView hg19]  WASHC5 - 8q24.13 [CytoView hg38]
Mapping of homologs : NCBIWASHC5 [Mapview hg19]  WASHC5 [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)WASHC5
Cluster EST : UnigeneHs.270043 [ NCBI ]
CGAP (NCI)Hs.270043
Alternative Splicing GalleryENSG00000164961
Gene ExpressionWASHC5 [ NCBI-GEO ]   WASHC5 [ EBI - ARRAY_EXPRESS ]   WASHC5 [ SEEK ]   WASHC5 [ MEM ]
Gene Expression Viewer (FireBrowse)WASHC5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9897
GTEX Portal (Tissue expression)WASHC5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12768   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12768  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12768
Splice isoforms : SwissVarQ12768
PhosPhoSitePlusQ12768
Domains : Interpro (EBI)WASH_strumpellin   
Domain families : Pfam (Sanger)Strumpellin (PF10266)   
Domain families : Pfam (NCBI)pfam10266   
Conserved Domain (NCBI)WASHC5
DMDM Disease mutations9897
Blocks (Seattle)WASHC5
SuperfamilyQ12768
Human Protein AtlasENSG00000164961
Peptide AtlasQ12768
HPRD13786
IPIIPI00029175   IPI00976079   IPI00976414   IPI00977066   
Protein Interaction databases
DIP (DOE-UCLA)Q12768
IntAct (EBI)Q12768
FunCoupENSG00000164961
BioGRIDWASHC5
STRING (EMBL)WASHC5
ZODIACWASHC5
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 NetworkWASHC5
Atlas of Cancer Signalling NetworkWASHC5
Wikipedia pathwaysWASHC5
Orthology - Evolution
OrthoDB9897
GeneTree (enSembl)ENSG00000164961
Phylogenetic Trees/Animal Genes : TreeFamKIAA0196
HOVERGENQ12768
HOGENOMQ12768
Homologs : HomoloGeneWASHC5
Homology/Alignments : Family Browser (UCSC)WASHC5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWASHC5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WASHC5
dbVarWASHC5
ClinVarWASHC5
1000_GenomesWASHC5 
Exome Variant ServerWASHC5
ExAC (Exome Aggregation Consortium)WASHC5 (select the gene name)
Genetic variants : HAPMAP9897
Genomic Variants (DGV)WASHC5 [DGVbeta]
DECIPHER (Syndromes)8:126036503-126104061  ENSG00000164961
CONAN: Copy Number AnalysisWASHC5 
Mutations
ICGC Data PortalKIAA0196 
TCGA Data PortalKIAA0196 
Broad Tumor PortalKIAA0196
OASIS PortalKIAA0196 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKIAA0196
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 WASHC5
DgiDB (Drug Gene Interaction Database)WASHC5
DoCM (Curated mutations)WASHC5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WASHC5 (select a term)
intoGenWASHC5
Cancer3DWASHC5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM220210    603563    610657   
Orphanet1242    14700   
MedgenWASHC5
Genetic Testing Registry WASHC5
NextProtQ12768 [Medical]
TSGene9897
GENETestsWASHC5
Huge Navigator KIAA0196 [HugePedia]
snp3D : Map Gene to Disease9897
BioCentury BCIQWASHC5
ClinGenWASHC5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9897
Chemical/Pharm GKB GenePA142671624
Clinical trialWASHC5
Miscellaneous
canSAR (ICR)WASHC5 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWASHC5
EVEXWASHC5
GoPubMedWASHC5
iHOPWASHC5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:24:55 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.