Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASP12 (caspase 12 (gene/pseudogene))

Identity

Alias_namesCASP12P1
caspase 12 pseudogene 1
caspase 12
Other aliasCASP-12
HGNC (Hugo) CASP12
LocusID (NCBI) 100506742
Atlas_Id 54191
Location 11q22.3  [Link to chromosome band 11q22]
Location_base_pair Starts at 104885718 and ends at 104898670 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)
FAM151B (5q14.1) / CASP12 (11q22.3)LRBA (4q31.3) / CASP12 (11q22.3)RPL27 (17q21.31) / CASP12 (11q22.3)
LRBA 4q31.3 / CASP12 11q22.3

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 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(4;11)(q31;q22) LRBA/CASP12
t(5;11)(q14;q22) FAM151B/CASP12

External links

Nomenclature
HGNC (Hugo)CASP12   19004
Cards
Entrez_Gene (NCBI)CASP12  100506742  caspase 12 (gene/pseudogene)
AliasesCASP-12; CASP12P1
GeneCards (Weizmann)CASP12
Ensembl hg19 (Hinxton)ENSG00000204403 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204403 [Gene_View]  ENSG00000204403 [Sequence]  chr11:104885718-104898670 [Contig_View]  CASP12 [Vega]
ICGC DataPortalENSG00000204403
TCGA cBioPortalCASP12
AceView (NCBI)CASP12
Genatlas (Paris)CASP12
WikiGenes100506742
SOURCE (Princeton)CASP12
Genetics Home Reference (NIH)CASP12
Genomic and cartography
GoldenPath hg38 (UCSC)CASP12  -     chr11:104885718-104898670 -  11q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASP12  -     11q22.3   [Description]    (hg19-Feb_2009)
CASP12 - 11q22.3 [CytoView hg19]  CASP12 - 11q22.3 [CytoView hg38]
Mapping of homologs : NCBICASP12 [Mapview hg19]  CASP12 [Mapview hg38]
OMIM608633   
Gene and transcription
Genbank (Entrez)AF464191 AF464192 AF464193 AF464194 AF464195
RefSeq transcript (Entrez)NM_001191016
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CASP12
Cluster EST : UnigeneHs.476989 [ NCBI ]
CGAP (NCI)Hs.476989
Alternative Splicing GalleryENSG00000204403
Gene ExpressionCASP12 [ NCBI-GEO ]   CASP12 [ EBI - ARRAY_EXPRESS ]   CASP12 [ SEEK ]   CASP12 [ MEM ]
Gene Expression Viewer (FireBrowse)CASP12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100506742
GTEX Portal (Tissue expression)CASP12
Human Protein AtlasENSG00000204403-CASP12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UXS9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UXS9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UXS9
Splice isoforms : SwissVarQ6UXS9
PhosPhoSitePlusQ6UXS9
Domaine pattern : Prosite (Expaxy)CARD (PS50209)    CASPASE_CYS (PS01122)    CASPASE_P10 (PS50207)    CASPASE_P20 (PS50208)   
Domains : Interpro (EBI)CARD    Caspase-like_dom_sf    Caspase_12    Caspase_cys_AS    DEATH-like_dom_sf    Pept_C14_p10    Pept_C14_p20    Pept_C14A   
Domain families : Pfam (Sanger)CARD (PF00619)   
Domain families : Pfam (NCBI)pfam00619   
Domain families : Smart (EMBL)CASc (SM00115)  
Conserved Domain (NCBI)CASP12
DMDM Disease mutations100506742
Blocks (Seattle)CASP12
SuperfamilyQ6UXS9
Human Protein Atlas [tissue]ENSG00000204403-CASP12 [tissue]
Peptide AtlasQ6UXS9
IPIIPI00432707   IPI00885062   IPI00885043   IPI00969217   IPI00924992   IPI00925214   IPI00925495   IPI00925748   IPI00925922   IPI01016014   IPI01013052   
Protein Interaction databases
DIP (DOE-UCLA)Q6UXS9
IntAct (EBI)Q6UXS9
FunCoupENSG00000204403
BioGRIDCASP12
STRING (EMBL)CASP12
ZODIACCASP12
Ontologies - Pathways
QuickGOQ6UXS9
Ontology : AmiGOcysteine-type endopeptidase activity  cytoplasm  endoplasmic reticulum  proteolysis  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cysteine-type endopeptidase activity involved in apoptotic process  cysteine-type endopeptidase activity involved in apoptotic process  apoptotic signaling pathway  execution phase of apoptosis  cysteine-type endopeptidase activity involved in apoptotic signaling pathway  
Ontology : EGO-EBIcysteine-type endopeptidase activity  cytoplasm  endoplasmic reticulum  proteolysis  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  cysteine-type endopeptidase activity involved in apoptotic process  cysteine-type endopeptidase activity involved in apoptotic process  apoptotic signaling pathway  execution phase of apoptosis  cysteine-type endopeptidase activity involved in apoptotic signaling pathway  
Pathways : KEGGProtein processing in endoplasmic reticulum    Apoptosis    Alzheimer's disease    Amyotrophic lateral sclerosis (ALS)    Prion diseases    Hepatitis B   
NDEx NetworkCASP12
Atlas of Cancer Signalling NetworkCASP12
Wikipedia pathwaysCASP12
Orthology - Evolution
OrthoDB100506742
GeneTree (enSembl)ENSG00000204403
Phylogenetic Trees/Animal Genes : TreeFamCASP12
HOGENOMQ6UXS9
Homologs : HomoloGeneCASP12
Homology/Alignments : Family Browser (UCSC)CASP12
Gene fusions - Rearrangements
Fusion : MitelmanFAM151B/CASP12 [5q14.1/11q22.3]  [t(5;11)(q14;q22)]  
Fusion : MitelmanLRBA/CASP12 [4q31.3/11q22.3]  [t(4;11)(q31;q22)]  
Fusion PortalLRBA 4q31.3 CASP12 11q22.3 BRCA
Fusion : QuiverCASP12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASP12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASP12
dbVarCASP12
ClinVarCASP12
1000_GenomesCASP12 
Exome Variant ServerCASP12
ExAC (Exome Aggregation Consortium)ENSG00000204403
GNOMAD BrowserENSG00000204403
Varsome BrowserCASP12
Genetic variants : HAPMAP100506742
Genomic Variants (DGV)CASP12 [DGVbeta]
DECIPHERCASP12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASP12 
Mutations
ICGC Data PortalCASP12 
TCGA Data PortalCASP12 
Broad Tumor PortalCASP12
OASIS PortalCASP12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASP12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCASP12
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 CASP12
DgiDB (Drug Gene Interaction Database)CASP12
DoCM (Curated mutations)CASP12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASP12 (select a term)
intoGenCASP12
Cancer3DCASP12(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608633   
Orphanet
DisGeNETCASP12
MedgenCASP12
Genetic Testing Registry CASP12
NextProtQ6UXS9 [Medical]
TSGene100506742
GENETestsCASP12
Target ValidationCASP12
Huge Navigator CASP12 [HugePedia]
snp3D : Map Gene to Disease100506742
BioCentury BCIQCASP12
ClinGenCASP12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD100506742
Chemical/Pharm GKB GenePA38776
Clinical trialCASP12
Miscellaneous
canSAR (ICR)CASP12 (select the gene name)
DataMed IndexCASP12
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASP12
EVEXCASP12
GoPubMedCASP12
iHOPCASP12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 21 15:39:01 CET 2019
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