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CAST (calpastatin)

Identity

Other aliasBS-17
PLACK
HGNC (Hugo) CAST
LocusID (NCBI) 831
Atlas_Id 50931
Location 5q15  [Link to chromosome band 5q15]
Location_base_pair Starts at 95997861 and ends at 96110385 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADD1 (4p16.3) / CAST (5q15)CAST (5q15) / CAST (5q15)CAST (5q15) / CDHR3 (7q22.3)
CAST (5q15) / FAM172A (5q15)CAST (5q15) / FAM19A1 (3p14.1)CAST (5q15) / NEK11 (3q22.1)
CAST (5q15) / PLCH1 (3q25.31)DYNC1H1 (14q32.31) / CAST (5q15)FRMPD4 (Xp22.2) / CAST (5q15)
LNPEP (5q15) / CAST (5q15)SCGB3A1 (5q35.3) / CAST (5q15)TMC1 (9q21.13) / CAST (5q15)
CAST 5q15 / CDHR3 7q22.3CAST 5q15 / FAM172A 5q15CAST 5q15 / PLCH1 3q25.31
LNPEP 5q15 / CAST 5q15SCGB3A1 5q35.3 / CAST 5q15

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)CAST   1515
Cards
Entrez_Gene (NCBI)CAST  831  calpastatin
AliasesBS-17; PLACK
GeneCards (Weizmann)CAST
Ensembl hg19 (Hinxton)ENSG00000153113 [Gene_View]  chr5:95997861-96110385 [Contig_View]  CAST [Vega]
Ensembl hg38 (Hinxton)ENSG00000153113 [Gene_View]  chr5:95997861-96110385 [Contig_View]  CAST [Vega]
ICGC DataPortalENSG00000153113
TCGA cBioPortalCAST
AceView (NCBI)CAST
Genatlas (Paris)CAST
WikiGenes831
SOURCE (Princeton)CAST
Genetics Home Reference (NIH)CAST
Genomic and cartography
GoldenPath hg19 (UCSC)CAST  -     chr5:95997861-96110385 +  5q15   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CAST  -     5q15   [Description]    (hg38-Dec_2013)
EnsemblCAST - 5q15 [CytoView hg19]  CAST - 5q15 [CytoView hg38]
Mapping of homologs : NCBICAST [Mapview hg19]  CAST [Mapview hg38]
OMIM114090   616295   
Gene and transcription
Genbank (Entrez)AB026049 AB208816 AF095891 AF327443 AK098137
RefSeq transcript (Entrez)NM_001042440 NM_001042441 NM_001042442 NM_001042443 NM_001042444 NM_001042445 NM_001042446 NM_001190442 NM_001284212 NM_001284213 NM_001750 NM_173060 NM_173061 NM_173062 NM_173063
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_029490 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)CAST
Cluster EST : UnigeneHs.436186 [ NCBI ]
CGAP (NCI)Hs.436186
Alternative Splicing GalleryENSG00000153113
Gene ExpressionCAST [ NCBI-GEO ]   CAST [ EBI - ARRAY_EXPRESS ]   CAST [ SEEK ]   CAST [ MEM ]
Gene Expression Viewer (FireBrowse)CAST [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)831
GTEX Portal (Tissue expression)CAST
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20810   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20810  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20810
Splice isoforms : SwissVarP20810
PhosPhoSitePlusP20810
Domains : Interpro (EBI)Calpastatin    Prot_inh_calpain   
Domain families : Pfam (Sanger)Calpain_inhib (PF00748)   
Domain families : Pfam (NCBI)pfam00748   
Conserved Domain (NCBI)CAST
DMDM Disease mutations831
Blocks (Seattle)CAST
SuperfamilyP20810
Human Protein AtlasENSG00000153113
Peptide AtlasP20810
HPRD00233
IPIIPI00305750   IPI00220857   IPI00979393   IPI00760715   IPI00761160   IPI00761035   IPI00302047   IPI00922832   IPI00816384   IPI00413492   IPI00963971   IPI00973916   IPI00973910   IPI00761069   IPI00968085   IPI00964761   IPI00939354   IPI00966074   IPI00964032   IPI00967304   IPI01022338   IPI00967889   IPI01015335   IPI00967353   IPI00964778   IPI00966414   IPI00760909   IPI00965190   IPI00965486   IPI00965413   
Protein Interaction databases
DIP (DOE-UCLA)P20810
IntAct (EBI)P20810
FunCoupENSG00000153113
BioGRIDCAST
STRING (EMBL)CAST
ZODIACCAST
Ontologies - Pathways
QuickGOP20810
Ontology : AmiGOliver development  protease binding  endopeptidase inhibitor activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  cytosol  egg activation  brain development  myoblast fusion  aging  calcium-dependent cysteine-type endopeptidase inhibitor activity  negative regulation of endopeptidase activity  membrane  organ regeneration  poly(A) RNA binding  myoblast differentiation  negative regulation of cell cycle arrest  negative regulation of type B pancreatic cell apoptotic process  
Ontology : EGO-EBIliver development  protease binding  endopeptidase inhibitor activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  cytosol  egg activation  brain development  myoblast fusion  aging  calcium-dependent cysteine-type endopeptidase inhibitor activity  negative regulation of endopeptidase activity  membrane  organ regeneration  poly(A) RNA binding  myoblast differentiation  negative regulation of cell cycle arrest  negative regulation of type B pancreatic cell apoptotic process  
NDEx NetworkCAST
Atlas of Cancer Signalling NetworkCAST
Wikipedia pathwaysCAST
Orthology - Evolution
OrthoDB831
GeneTree (enSembl)ENSG00000153113
Phylogenetic Trees/Animal Genes : TreeFamCAST
HOVERGENP20810
HOGENOMP20810
Homologs : HomoloGeneCAST
Homology/Alignments : Family Browser (UCSC)CAST
Gene fusions - Rearrangements
Fusion : MitelmanCAST/CDHR3 [5q15/7q22.3]  
Fusion : MitelmanCAST/FAM19A1 [5q15/3p14.1]  [t(3;5)(p14;q15)]  
Fusion : MitelmanCAST/PLCH1 [5q15/3q25.31]  [t(3;5)(q25;q15)]  
Fusion : MitelmanSCGB3A1/CAST [5q35.3/5q15]  [t(5;5)(q15;q35)]  
Fusion: TCGACAST 5q15 CDHR3 7q22.3 LUAD
Fusion: TCGACAST 5q15 FAM172A 5q15 BRCA
Fusion: TCGACAST 5q15 PLCH1 3q25.31 PRAD
Fusion: TCGALNPEP 5q15 CAST 5q15 BRCA
Fusion: TCGASCGB3A1 5q35.3 CAST 5q15 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAST [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAST
dbVarCAST
ClinVarCAST
1000_GenomesCAST 
Exome Variant ServerCAST
ExAC (Exome Aggregation Consortium)CAST (select the gene name)
Genetic variants : HAPMAP831
Genomic Variants (DGV)CAST [DGVbeta]
DECIPHER (Syndromes)5:95997861-96110385  ENSG00000153113
CONAN: Copy Number AnalysisCAST 
Mutations
ICGC Data PortalCAST 
TCGA Data PortalCAST 
Broad Tumor PortalCAST
OASIS PortalCAST [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAST  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAST
intOGen PortalCAST
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 CAST
DgiDB (Drug Gene Interaction Database)CAST
DoCM (Curated mutations)CAST (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAST (select a term)
intoGenCAST
Cancer3DCAST(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114090    616295   
Orphanet23486   
MedgenCAST
Genetic Testing Registry CAST
NextProtP20810 [Medical]
TSGene831
GENETestsCAST
Huge Navigator CAST [HugePedia]
snp3D : Map Gene to Disease831
BioCentury BCIQCAST
ClinGenCAST
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD831
Chemical/Pharm GKB GenePA26098
Clinical trialCAST
Miscellaneous
canSAR (ICR)CAST (select the gene name)
Probes
Litterature
PubMed99 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAST
EVEXCAST
GoPubMedCAST
iHOPCAST
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:55:07 CEST 2017

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