Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SHISA5 (shisa family member 5)

Identity

Alias (NCBI)SCOTIN
HGNC (Hugo) SHISA5
HGNC Alias symbSCOTIN
hShisa5
HGNC Previous nameshisa homolog 5 (Xenopus laevis)
LocusID (NCBI) 51246
Atlas_Id 42217
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 48467798 and ends at 48504249 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)
ESD (13q14.2) / SHISA5 (3p21.31)MECOM (3q26.2) / SHISA5 (3p21.31)MERTK (2q13) / SHISA5 (3p21.31)
PRRC2A (6p21.33) / SHISA5 (3p21.31)QRICH1 (3p21.31) / SHISA5 (3p21.31)RNU11 (1p35.3) / SHISA5 (3p21.31)
SCMH1 (1p34.2) / SHISA5 (3p21.31)SHISA5 (3p21.31) / GOLGA3 (12q24.33)SHISA5 (3p21.31) / SERINC3 (20q13.12)
SHISA5 (3p21.31) / SHISA5 (3p21.31)SHISA5 (3p21.31) / ST6GALNAC6 (9q34.11)SMARCC1 (3p21.31) / SHISA5 (3p21.31)
STEAP3 (2q14.2) / SHISA5 (3p21.31)SCMH1 1p34.2 / SHISA5 3p21.31SMARCC1 3p21.31 / SHISA5 3p21.31

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) [ 3 ]
  del(3)(p21p21) QRICH1/SHISA5
t(1;3)(p34;p21) SCMH1/SHISA5
SMARCC1/SHISA5 (3p21)

External links

Nomenclature
HGNC (Hugo)SHISA5   30376
Cards
Entrez_Gene (NCBI)SHISA5  51246  shisa family member 5
AliasesSCOTIN
GeneCards (Weizmann)SHISA5
Ensembl hg19 (Hinxton)ENSG00000164054 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164054 [Gene_View]  ENSG00000164054 [Sequence]  chr3:48467798-48504249 [Contig_View]  SHISA5 [Vega]
ICGC DataPortalENSG00000164054
TCGA cBioPortalSHISA5
AceView (NCBI)SHISA5
Genatlas (Paris)SHISA5
WikiGenes51246
SOURCE (Princeton)SHISA5
Genetics Home Reference (NIH)SHISA5
Genomic and cartography
GoldenPath hg38 (UCSC)SHISA5  -     chr3:48467798-48504249 -  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHISA5  -     3p21.31   [Description]    (hg19-Feb_2009)
GoldenPathSHISA5 - 3p21.31 [CytoView hg19]  SHISA5 - 3p21.31 [CytoView hg38]
ImmunoBaseENSG00000164054
genome Data Viewer NCBISHISA5 [Mapview hg19]  
OMIM607290   
Gene and transcription
Genbank (Entrez)AB097007 AF151051 AF520698 AI718508 AK027728
RefSeq transcript (Entrez)NM_001272065 NM_001272066 NM_001272067 NM_001272068 NM_001272082 NM_001272083 NM_016479
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHISA5
Alternative Splicing GalleryENSG00000164054
Gene ExpressionSHISA5 [ NCBI-GEO ]   SHISA5 [ EBI - ARRAY_EXPRESS ]   SHISA5 [ SEEK ]   SHISA5 [ MEM ]
Gene Expression Viewer (FireBrowse)SHISA5 [ Firebrowse - Broad ]
GenevisibleExpression of SHISA5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51246
GTEX Portal (Tissue expression)SHISA5
Human Protein AtlasENSG00000164054-SHISA5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N114   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N114  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N114
Splice isoforms : SwissVarQ8N114
PhosPhoSitePlusQ8N114
Domains : Interpro (EBI)Shisa   
Domain families : Pfam (Sanger)Shisa (PF13908)   
Domain families : Pfam (NCBI)pfam13908   
Conserved Domain (NCBI)SHISA5
DMDM Disease mutations51246
Blocks (Seattle)SHISA5
SuperfamilyQ8N114
Human Protein Atlas [tissue]ENSG00000164054-SHISA5 [tissue]
Peptide AtlasQ8N114
HPRD06290
IPIIPI00166039   IPI00796691   IPI00876934   IPI00743122   IPI00908916   IPI00789283   IPI00926632   IPI00926346   IPI00927583   IPI00927801   IPI00927154   IPI00927349   
Protein Interaction databases
DIP (DOE-UCLA)Q8N114
IntAct (EBI)Q8N114
FunCoupENSG00000164054
BioGRIDSHISA5
STRING (EMBL)SHISA5
ZODIACSHISA5
Ontologies - Pathways
QuickGOQ8N114
Ontology : AmiGOprotein binding  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum membrane  integral component of membrane  nuclear membrane  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  positive regulation of I-kappaB kinase/NF-kappaB signaling  post-translational protein modification  cellular protein metabolic process  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum membrane  integral component of membrane  nuclear membrane  intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  positive regulation of I-kappaB kinase/NF-kappaB signaling  post-translational protein modification  cellular protein metabolic process  
Pathways : KEGGp53 signaling pathway   
NDEx NetworkSHISA5
Atlas of Cancer Signalling NetworkSHISA5
Wikipedia pathwaysSHISA5
Orthology - Evolution
OrthoDB51246
GeneTree (enSembl)ENSG00000164054
Phylogenetic Trees/Animal Genes : TreeFamSHISA5
HOGENOMQ8N114
Homologs : HomoloGeneSHISA5
Homology/Alignments : Family Browser (UCSC)SHISA5
Gene fusions - Rearrangements
Fusion : MitelmanQRICH1/SHISA5 [3p21.31/3p21.31]  
Fusion : MitelmanSCMH1/SHISA5 [1p34.2/3p21.31]  
Fusion : MitelmanSMARCC1/SHISA5 [3p21.31/3p21.31]  
Fusion PortalSCMH1 1p34.2 SHISA5 3p21.31 HNSC
Fusion PortalSMARCC1 3p21.31 SHISA5 3p21.31 BLCA
Fusion : QuiverSHISA5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHISA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHISA5
dbVarSHISA5
ClinVarSHISA5
1000_GenomesSHISA5 
Exome Variant ServerSHISA5
GNOMAD BrowserENSG00000164054
Varsome BrowserSHISA5
Genetic variants : HAPMAP51246
Genomic Variants (DGV)SHISA5 [DGVbeta]
DECIPHERSHISA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHISA5 
Mutations
ICGC Data PortalSHISA5 
TCGA Data PortalSHISA5 
Broad Tumor PortalSHISA5
OASIS PortalSHISA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHISA5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSHISA5
Mutations and Diseases : HGMDSHISA5
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 SHISA5
DgiDB (Drug Gene Interaction Database)SHISA5
DoCM (Curated mutations)SHISA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHISA5 (select a term)
intoGenSHISA5
Cancer3DSHISA5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607290   
Orphanet
DisGeNETSHISA5
MedgenSHISA5
Genetic Testing Registry SHISA5
NextProtQ8N114 [Medical]
TSGene51246
GENETestsSHISA5
Target ValidationSHISA5
Huge Navigator SHISA5 [HugePedia]
snp3D : Map Gene to Disease51246
BioCentury BCIQSHISA5
ClinGenSHISA5
Clinical trials, drugs, therapy
Protein Interactions : CTD51246
Pharm GKB GenePA162403295
Clinical trialSHISA5
Miscellaneous
canSAR (ICR)SHISA5 (select the gene name)
HarmonizomeSHISA5
DataMed IndexSHISA5
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHISA5
EVEXSHISA5
GoPubMedSHISA5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:35:33 CEST 2020
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