GSDMC (gasdermin C) - Rat Genome Database

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Gene: GSDMC (gasdermin C) Homo sapiens
Analyze
Symbol: GSDMC
Name: gasdermin C
RGD ID: 1319081
HGNC Page HGNC
Description: Predicted to have phosphatidylinositol-4,5-bisphosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylserine binding activity. Predicted to be involved in defense response to bacterium; intestinal epithelial cell development; and pyroptosis. Localizes to cytoplasm; INTERACTS WITH 1-nitropyrene; 17beta-estradiol; 2-hydroxypropanoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: gasdermin-C; melanoma-derived leucine zipper, extra-nuclear factor; melanoma-derived leucine zipper-containing extranuclear factor; MLZE
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8129,748,196 - 129,786,624 (-)EnsemblGRCh38hg38GRCh38
GRCh388129,705,903 - 129,786,624 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378130,760,442 - 130,798,870 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368130,829,624 - 130,868,316 (-)NCBINCBI36hg18NCBI36
Build 348130,829,624 - 130,868,316NCBI
Celera8126,938,559 - 126,977,251 (-)NCBI
Cytogenetic Map8q24.21NCBI
HuRef8126,079,087 - 126,117,763 (-)NCBIHuRef
CHM1_18130,800,680 - 130,839,374 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:11223543   PMID:12477932   PMID:15489334   PMID:16344560   PMID:17350798   PMID:18029348   PMID:19051310   PMID:19270707   PMID:19490893   PMID:20881960   PMID:21738478   PMID:21738480  
PMID:21873635   PMID:23393555   PMID:25281659   PMID:25429064   PMID:27835699   PMID:29428815   PMID:29676528   PMID:30226565   PMID:31939622   PMID:32929201   PMID:33273635  


Genomics

Comparative Map Data
GSDMC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8129,748,196 - 129,786,624 (-)EnsemblGRCh38hg38GRCh38
GRCh388129,705,903 - 129,786,624 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378130,760,442 - 130,798,870 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368130,829,624 - 130,868,316 (-)NCBINCBI36hg18NCBI36
Build 348130,829,624 - 130,868,316NCBI
Celera8126,938,559 - 126,977,251 (-)NCBI
Cytogenetic Map8q24.21NCBI
HuRef8126,079,087 - 126,117,763 (-)NCBIHuRef
CHM1_18130,800,680 - 130,839,374 (-)NCBICHM1_1
Gsdmc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391563,696,177 - 63,717,042 (-)NCBIGRCm39mm39
GRCm39 Ensembl1563,696,195 - 63,717,026 (-)Ensembl
GRCm381563,824,328 - 63,845,193 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1563,824,346 - 63,845,177 (-)EnsemblGRCm38mm10GRCm38
MGSCv371563,655,901 - 63,676,731 (-)NCBIGRCm37mm9NCBIm37
MGSCv361563,654,012 - 63,674,842 (-)NCBImm8
Celera1565,329,697 - 65,340,197 (-)NCBICelera
Cytogenetic Map15D1NCBI
Gsdmc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2795,594,015 - 95,606,106 (-)NCBI
Rnor_6.0 Ensembl7104,474,418 - 104,486,710 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07104,474,418 - 104,492,373 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0791,477,763 - 91,495,324 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47101,108,796 - 101,120,887 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17101,143,025 - 101,155,117 (-)NCBI
Celera792,191,820 - 92,203,910 (-)NCBICelera
Cytogenetic Map7q33NCBI
Gsdmc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554614,594,967 - 4,610,037 (+)NCBIChiLan1.0ChiLan1.0
GSDMC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18129,118,142 - 129,157,082 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8129,118,445 - 129,147,808 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08126,384,575 - 126,423,505 (-)NCBIMhudiblu_PPA_v0panPan3
GSDMC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11326,906,167 - 26,919,599 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1326,907,120 - 26,919,353 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1326,874,947 - 26,893,488 (+)NCBI
ROS_Cfam_1.01327,251,396 - 27,270,024 (+)NCBI
UMICH_Zoey_3.11326,968,131 - 26,986,664 (+)NCBI
UNSW_CanFamBas_1.01327,088,481 - 27,107,014 (+)NCBI
UU_Cfam_GSD_1.01327,388,369 - 27,406,918 (+)NCBI
Gsdmc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530311,407,434 - 11,430,055 (+)NCBI
SpeTri2.0NW_00493647018,840,455 - 18,856,022 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100151870
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1410,724,754 - 10,744,226 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2411,095,423 - 11,113,844 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GSDMC
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18124,247,934 - 124,291,282 (-)NCBI
Gsdmc
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473525,913,246 - 25,955,621 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:407
Count of miRNA genes:340
Interacting mature miRNAs:361
Transcripts:ENST00000276708, ENST00000521365, ENST00000522273
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 8 2 5 38 240 1 1301 18 13 186 60 43 1 705
Low 170 313 311 150 84 60 636 809 282 69 279 608 99 97 575
Below cutoff 1773 2153 1081 267 1095 237 1802 1124 2919 204 835 893 30 873 1109 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_031415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB042405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC196515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ245876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA437012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276708   ⟹   ENSP00000276708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8129,748,196 - 129,786,624 (-)Ensembl
RefSeq Acc Id: ENST00000521365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8129,751,708 - 129,752,757 (-)Ensembl
RefSeq Acc Id: ENST00000522273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8129,748,196 - 129,752,886 (-)Ensembl
RefSeq Acc Id: ENST00000619643   ⟹   ENSP00000482343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8129,748,197 - 129,777,587 (-)Ensembl
RefSeq Acc Id: NM_031415   ⟹   NP_113603
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,748,196 - 129,786,624 (-)NCBI
GRCh378130,760,442 - 130,799,134 (-)RGD
Build 368130,829,624 - 130,868,316 (-)NCBI Archive
Celera8126,938,559 - 126,977,251 (-)RGD
HuRef8126,079,087 - 126,117,763 (-)RGD
CHM1_18130,800,680 - 130,839,374 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517158   ⟹   XP_011515460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,748,196 - 129,786,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517159   ⟹   XP_011515461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,748,196 - 129,786,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517161   ⟹   XP_011515463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,747,051 - 129,786,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517162   ⟹   XP_011515464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,748,196 - 129,786,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517163   ⟹   XP_011515465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,748,196 - 129,777,412 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517165   ⟹   XP_011515467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,748,196 - 129,754,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517166   ⟹   XP_011515468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,748,196 - 129,762,616 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517167   ⟹   XP_011515469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,752,735 - 129,786,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517168   ⟹   XP_011515470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,752,735 - 129,786,552 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013645   ⟹   XP_016869134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,748,196 - 129,776,266 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928339
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,705,903 - 129,786,552 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928340
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,705,903 - 129,786,552 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928341
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,748,715 - 129,786,552 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_113603   ⟸   NM_031415
- UniProtKB: Q9BYG8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515463   ⟸   XM_011517161
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515461   ⟸   XM_011517159
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515460   ⟸   XM_011517158
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515464   ⟸   XM_011517162
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011515465   ⟸   XM_011517163
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011515468   ⟸   XM_011517166
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011515467   ⟸   XM_011517165
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011515470   ⟸   XM_011517168
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011515469   ⟸   XM_011517167
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016869134   ⟸   XM_017013645
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000276708   ⟸   ENST00000276708
RefSeq Acc Id: ENSP00000482343   ⟸   ENST00000619643
Protein Domains
Gasdermin   Gasdermin_C

Promoters
RGD ID:7214181
Promoter ID:EPDNEW_H12836
Type:initiation region
Name:GSDMC_2
Description:gasdermin C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12837  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,752,875 - 129,752,935EPDNEW
RGD ID:7214189
Promoter ID:EPDNEW_H12837
Type:initiation region
Name:GSDMC_1
Description:gasdermin C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12836  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388129,786,624 - 129,786,684EPDNEW
RGD ID:6806786
Promoter ID:HG_KWN:62098
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_031415
Position:
Human AssemblyChrPosition (strand)Source
Build 368130,868,226 - 130,868,726 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
NM_031415.2(GSDMC):c.1445C>T (p.Ser482Leu) single nucleotide variant Malignant melanoma [RCV000061752] Chr8:129748583 [GRCh38]
Chr8:130760829 [GRCh37]
Chr8:130830011 [NCBI36]
Chr8:8q24.21
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1 copy number loss See cases [RCV000448960] Chr8:128295596..133200773 [GRCh37]
Chr8:8q24.21-24.22
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_031415.3(GSDMC):c.449G>A (p.Arg150Lys) single nucleotide variant not provided [RCV000961895] Chr8:129765749 [GRCh38]
Chr8:130777995 [GRCh37]
Chr8:8q24.21
benign
NM_031415.3(GSDMC):c.759G>A (p.Ala253=) single nucleotide variant not provided [RCV000885660] Chr8:129752783 [GRCh38]
Chr8:130765029 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_031415.3(GSDMC):c.1125T>C (p.Gly375=) single nucleotide variant not provided [RCV000959034] Chr8:129750078 [GRCh38]
Chr8:130762324 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.21(chr8:130555990-130878408)x3 copy number gain not provided [RCV001006147] Chr8:130555990..130878408 [GRCh37]
Chr8:8q24.21
uncertain significance
NM_031415.3(GSDMC):c.160G>A (p.Asp54Asn) single nucleotide variant not provided [RCV000889701] Chr8:129777428 [GRCh38]
Chr8:130789674 [GRCh37]
Chr8:8q24.21
benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7151 AgrOrtholog
COSMIC GSDMC COSMIC
Ensembl Genes ENSG00000147697 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000285114 UniProtKB/TrEMBL
Ensembl Protein ENSP00000276708 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482343 UniProtKB/Swiss-Prot
  ENSP00000494855 UniProtKB/TrEMBL
  ENSP00000496548 UniProtKB/TrEMBL
Ensembl Transcript ENST00000276708 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522273 ENTREZGENE
  ENST00000619643 UniProtKB/Swiss-Prot
  ENST00000642712 UniProtKB/TrEMBL
  ENST00000646090 UniProtKB/TrEMBL
GTEx ENSG00000147697 GTEx
  ENSG00000285114 GTEx
HGNC ID HGNC:7151 ENTREZGENE
Human Proteome Map GSDMC Human Proteome Map
InterPro Gasdermin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gasdermin_pore UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gasdermin_PUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56169 UniProtKB/Swiss-Prot
NCBI Gene 56169 ENTREZGENE
OMIM 608384 OMIM
PANTHER PTHR16399 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gasdermin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gasdermin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162390324 PharmGKB
UniProt A0A2R8Y5J4_HUMAN UniProtKB/TrEMBL
  GSDMC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5XKF3 UniProtKB/Swiss-Prot
  Q6P494 UniProtKB/Swiss-Prot