Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GSDMC (gasdermin C)

Identity

Alias_namesMLZE
melanoma-derived leucine zipper, extra-nuclear factor
Other alias
HGNC (Hugo) GSDMC
LocusID (NCBI) 56169
Atlas_Id 41384
Location 8q24.21  [Link to chromosome band 8q24]
Location_base_pair Starts at 129748196 and ends at 129786888 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)
GSDMC (8q24.21) / PVT1 (8q24.21)

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 ]
  GSDMC/PVT1 (8q24)

External links

Nomenclature
HGNC (Hugo)GSDMC   7151
Cards
Entrez_Gene (NCBI)GSDMC  56169  gasdermin C
AliasesMLZE
GeneCards (Weizmann)GSDMC
Ensembl hg19 (Hinxton)ENSG00000147697 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147697 [Gene_View]  ENSG00000147697 [Sequence]  chr8:129748196-129786888 [Contig_View]  GSDMC [Vega]
ICGC DataPortalENSG00000147697
TCGA cBioPortalGSDMC
AceView (NCBI)GSDMC
Genatlas (Paris)GSDMC
WikiGenes56169
SOURCE (Princeton)GSDMC
Genetics Home Reference (NIH)GSDMC
Genomic and cartography
GoldenPath hg38 (UCSC)GSDMC  -     chr8:129748196-129786888 -  8q24.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GSDMC  -     8q24.21   [Description]    (hg19-Feb_2009)
GoldenPathGSDMC - 8q24.21 [CytoView hg19]  GSDMC - 8q24.21 [CytoView hg38]
ImmunoBaseENSG00000147697
Mapping of homologs : NCBIGSDMC [Mapview hg19]  GSDMC [Mapview hg38]
OMIM608384   
Gene and transcription
Genbank (Entrez)AB042405 AJ245876 BC035321 BC063595 DA437012
RefSeq transcript (Entrez)NM_031415
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GSDMC
Cluster EST : UnigeneHs.133244 [ NCBI ]
CGAP (NCI)Hs.133244
Alternative Splicing GalleryENSG00000147697
Gene ExpressionGSDMC [ NCBI-GEO ]   GSDMC [ EBI - ARRAY_EXPRESS ]   GSDMC [ SEEK ]   GSDMC [ MEM ]
Gene Expression Viewer (FireBrowse)GSDMC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56169
GTEX Portal (Tissue expression)GSDMC
Human Protein AtlasENSG00000147697-GSDMC [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYG8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BYG8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BYG8
Splice isoforms : SwissVarQ9BYG8
PhosPhoSitePlusQ9BYG8
Domains : Interpro (EBI)Gasdermin   
Domain families : Pfam (Sanger)Gasdermin (PF04598)   
Domain families : Pfam (NCBI)pfam04598   
Conserved Domain (NCBI)GSDMC
DMDM Disease mutations56169
Blocks (Seattle)GSDMC
SuperfamilyQ9BYG8
Human Protein Atlas [tissue]ENSG00000147697-GSDMC [tissue]
Peptide AtlasQ9BYG8
HPRD12222
IPIIPI00027737   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYG8
IntAct (EBI)Q9BYG8
FunCoupENSG00000147697
BioGRIDGSDMC
STRING (EMBL)GSDMC
ZODIACGSDMC
Ontologies - Pathways
QuickGOQ9BYG8
Ontology : AmiGOphosphatidylserine binding  molecular_function  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  mitochondrion  microtubule organizing center  cytosol  plasma membrane  biological_process  pyroptosis  phosphatidylinositol-4-phosphate binding  
Ontology : EGO-EBIphosphatidylserine binding  molecular_function  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  mitochondrion  microtubule organizing center  cytosol  plasma membrane  biological_process  pyroptosis  phosphatidylinositol-4-phosphate binding  
NDEx NetworkGSDMC
Atlas of Cancer Signalling NetworkGSDMC
Wikipedia pathwaysGSDMC
Orthology - Evolution
OrthoDB56169
GeneTree (enSembl)ENSG00000147697
Phylogenetic Trees/Animal Genes : TreeFamGSDMC
HOGENOMQ9BYG8
Homologs : HomoloGeneGSDMC
Homology/Alignments : Family Browser (UCSC)GSDMC
Gene fusions - Rearrangements
Fusion : MitelmanGSDMC/PVT1 [8q24.21/8q24.21]  
Fusion : QuiverGSDMC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGSDMC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GSDMC
dbVarGSDMC
ClinVarGSDMC
1000_GenomesGSDMC 
Exome Variant ServerGSDMC
ExAC (Exome Aggregation Consortium)ENSG00000147697
GNOMAD BrowserENSG00000147697
Varsome BrowserGSDMC
Genetic variants : HAPMAP56169
Genomic Variants (DGV)GSDMC [DGVbeta]
DECIPHERGSDMC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGSDMC 
Mutations
ICGC Data PortalGSDMC 
TCGA Data PortalGSDMC 
Broad Tumor PortalGSDMC
OASIS PortalGSDMC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGSDMC  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGSDMC
Mutations and Diseases : HGMDGSDMC
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 GSDMC
DgiDB (Drug Gene Interaction Database)GSDMC
DoCM (Curated mutations)GSDMC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GSDMC (select a term)
intoGenGSDMC
Cancer3DGSDMC(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608384   
Orphanet
DisGeNETGSDMC
MedgenGSDMC
Genetic Testing Registry GSDMC
NextProtQ9BYG8 [Medical]
TSGene56169
GENETestsGSDMC
Target ValidationGSDMC
Huge Navigator GSDMC [HugePedia]
snp3D : Map Gene to Disease56169
BioCentury BCIQGSDMC
ClinGenGSDMC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56169
Chemical/Pharm GKB GenePA162390324
Clinical trialGSDMC
Miscellaneous
canSAR (ICR)GSDMC (select the gene name)
DataMed IndexGSDMC
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGSDMC
EVEXGSDMC
GoPubMedGSDMC
iHOPGSDMC
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 17:45:48 CET 2019
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