Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASQ1 (calsequestrin 1)

Identity

Alias_namesCASQ
calsequestrin 1 (fast-twitch, skeletal muscle)
Alias_symbol (synonym)PDIB1
Other aliasVMCQA
HGNC (Hugo) CASQ1
LocusID (NCBI) 844
Atlas_Id 54862
Location 1q23.2  [Link to chromosome band 1q23]
Location_base_pair Starts at 160190495 and ends at 160201886 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)
CHRM3 (1q43) / CASQ1 (1q23.2)CHRM3 1q43 / CASQ1 1q23.2

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) [ 1 ]
  t(1;1)(q23;q43) CHRM3/CASQ1

External links

Nomenclature
HGNC (Hugo)CASQ1   1512
Cards
Entrez_Gene (NCBI)CASQ1  844  calsequestrin 1
AliasesCASQ; PDIB1; VMCQA
GeneCards (Weizmann)CASQ1
Ensembl hg19 (Hinxton)ENSG00000143318 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143318 [Gene_View]  ENSG00000143318 [Sequence]  chr1:160190495-160201886 [Contig_View]  CASQ1 [Vega]
ICGC DataPortalENSG00000143318
TCGA cBioPortalCASQ1
AceView (NCBI)CASQ1
Genatlas (Paris)CASQ1
WikiGenes844
SOURCE (Princeton)CASQ1
Genetics Home Reference (NIH)CASQ1
Genomic and cartography
GoldenPath hg38 (UCSC)CASQ1  -     chr1:160190495-160201886 +  1q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASQ1  -     1q23.2   [Description]    (hg19-Feb_2009)
GoldenPathCASQ1 - 1q23.2 [CytoView hg19]  CASQ1 - 1q23.2 [CytoView hg38]
ImmunoBaseENSG00000143318
Mapping of homologs : NCBICASQ1 [Mapview hg19]  CASQ1 [Mapview hg38]
OMIM114250   616231   
Gene and transcription
Genbank (Entrez)AA197256 AI141895 AK300713 AK313250 BC022289
RefSeq transcript (Entrez)NM_001231
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CASQ1
Cluster EST : UnigeneHs.632476 [ NCBI ]
CGAP (NCI)Hs.632476
Alternative Splicing GalleryENSG00000143318
Gene ExpressionCASQ1 [ NCBI-GEO ]   CASQ1 [ EBI - ARRAY_EXPRESS ]   CASQ1 [ SEEK ]   CASQ1 [ MEM ]
Gene Expression Viewer (FireBrowse)CASQ1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)844
GTEX Portal (Tissue expression)CASQ1
Human Protein AtlasENSG00000143318-CASQ1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31415   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP31415  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP31415
Splice isoforms : SwissVarP31415
PhosPhoSitePlusP31415
Domaine pattern : Prosite (Expaxy)CALSEQUESTRIN_1 (PS00863)    CALSEQUESTRIN_2 (PS00864)   
Domains : Interpro (EBI)Calsequestrin    Calsequestrin_CS    Thioredoxin-like_sf   
Domain families : Pfam (Sanger)Calsequestrin (PF01216)   
Domain families : Pfam (NCBI)pfam01216   
Conserved Domain (NCBI)CASQ1
DMDM Disease mutations844
Blocks (Seattle)CASQ1
PDB (RSDB)3UOM    5CRD    5CRE    5CRG    5CRH   
PDB Europe3UOM    5CRD    5CRE    5CRG    5CRH   
PDB (PDBSum)3UOM    5CRD    5CRE    5CRG    5CRH   
PDB (IMB)3UOM    5CRD    5CRE    5CRG    5CRH   
Structural Biology KnowledgeBase3UOM    5CRD    5CRE    5CRG    5CRH   
SCOP (Structural Classification of Proteins)3UOM    5CRD    5CRE    5CRG    5CRH   
CATH (Classification of proteins structures)3UOM    5CRD    5CRE    5CRG    5CRH   
SuperfamilyP31415
Human Protein Atlas [tissue]ENSG00000143318-CASQ1 [tissue]
Peptide AtlasP31415
HPRD15915
IPIIPI00843888   IPI00908490   IPI01020694   
Protein Interaction databases
DIP (DOE-UCLA)P31415
IntAct (EBI)P31415
FunCoupENSG00000143318
BioGRIDCASQ1
STRING (EMBL)CASQ1
ZODIACCASQ1
Ontologies - Pathways
QuickGOP31415
Ontology : AmiGOcalcium ion binding  calcium ion binding  protein binding  mitochondrion  mitochondrial matrix  endoplasmic reticulum  smooth endoplasmic reticulum  Golgi apparatus  endoplasmic reticulum organization  skeletal muscle tissue development  response to heat  response to organic substance  terminal cisterna lumen  regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion  regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion  response to denervation involved in regulation of muscle adaptation  sarcoplasmic reticulum  Z disc  T-tubule  sarcoplasmic reticulum membrane  sarcoplasmic reticulum lumen  sarcoplasmic reticulum lumen  ion transmembrane transport  identical protein binding  sarcomere organization  protein polymerization  positive regulation of release of sequestered calcium ion into cytosol  positive regulation of store-operated calcium channel activity  regulation of cardiac conduction  regulation of store-operated calcium entry  
Ontology : EGO-EBIcalcium ion binding  calcium ion binding  protein binding  mitochondrion  mitochondrial matrix  endoplasmic reticulum  smooth endoplasmic reticulum  Golgi apparatus  endoplasmic reticulum organization  skeletal muscle tissue development  response to heat  response to organic substance  terminal cisterna lumen  regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion  regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion  response to denervation involved in regulation of muscle adaptation  sarcoplasmic reticulum  Z disc  T-tubule  sarcoplasmic reticulum membrane  sarcoplasmic reticulum lumen  sarcoplasmic reticulum lumen  ion transmembrane transport  identical protein binding  sarcomere organization  protein polymerization  positive regulation of release of sequestered calcium ion into cytosol  positive regulation of store-operated calcium channel activity  regulation of cardiac conduction  regulation of store-operated calcium entry  
NDEx NetworkCASQ1
Atlas of Cancer Signalling NetworkCASQ1
Wikipedia pathwaysCASQ1
Orthology - Evolution
OrthoDB844
GeneTree (enSembl)ENSG00000143318
Phylogenetic Trees/Animal Genes : TreeFamCASQ1
HOGENOMP31415
Homologs : HomoloGeneCASQ1
Homology/Alignments : Family Browser (UCSC)CASQ1
Gene fusions - Rearrangements
Fusion : MitelmanCHRM3/CASQ1 [1q43/1q23.2]  [t(1;1)(q23;q43)]  
Fusion PortalCHRM3 1q43 CASQ1 1q23.2 LUSC
Fusion : QuiverCASQ1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASQ1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASQ1
dbVarCASQ1
ClinVarCASQ1
1000_GenomesCASQ1 
Exome Variant ServerCASQ1
ExAC (Exome Aggregation Consortium)ENSG00000143318
GNOMAD BrowserENSG00000143318
Varsome BrowserCASQ1
Genetic variants : HAPMAP844
Genomic Variants (DGV)CASQ1 [DGVbeta]
DECIPHERCASQ1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASQ1 
Mutations
ICGC Data PortalCASQ1 
TCGA Data PortalCASQ1 
Broad Tumor PortalCASQ1
OASIS PortalCASQ1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASQ1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCASQ1
Mutations and Diseases : HGMDCASQ1
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 CASQ1
DgiDB (Drug Gene Interaction Database)CASQ1
DoCM (Curated mutations)CASQ1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASQ1 (select a term)
intoGenCASQ1
Cancer3DCASQ1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114250    616231   
Orphanet11814   
DisGeNETCASQ1
MedgenCASQ1
Genetic Testing Registry CASQ1
NextProtP31415 [Medical]
TSGene844
GENETestsCASQ1
Target ValidationCASQ1
Huge Navigator CASQ1 [HugePedia]
snp3D : Map Gene to Disease844
BioCentury BCIQCASQ1
ClinGenCASQ1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD844
Chemical/Pharm GKB GenePA26095
Clinical trialCASQ1
Miscellaneous
canSAR (ICR)CASQ1 (select the gene name)
DataMed IndexCASQ1
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASQ1
EVEXCASQ1
GoPubMedCASQ1
iHOPCASQ1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:35:31 CET 2019
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