GSDMD (gasdermin D) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GSDMD (gasdermin D) Homo sapiens
Analyze
Symbol: GSDMD
Name: gasdermin D
RGD ID: 1316349
HGNC Page HGNC
Description: Exhibits wide pore channel activity. Involved in pyroptosis. Localizes to nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DF5L; DFNA5L; FKSG10; FLJ12150; gasdermin domain containing 1; gasdermin domain-containing protein 1; gasdermin-D; GSDMDC1
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 Ensembl8143,553,207 - 143,563,062 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,553,387 - 143,563,062 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,635,557 - 144,645,232 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,711,635 - 144,716,375 (+)NCBINCBI36hg18NCBI36
Build 348144,712,102 - 144,716,372NCBI
Celera8140,945,843 - 140,955,486 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,886,817 - 139,896,607 (+)NCBIHuRef
CHM1_18144,675,788 - 144,685,442 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:14702039   PMID:15289881   PMID:15489334   PMID:15592455   PMID:16421571   PMID:17350798   PMID:19051310   PMID:21873635   PMID:25416956   PMID:26375003   PMID:26611636   PMID:27339137  
PMID:27383986   PMID:27418190   PMID:27460194   PMID:27557502   PMID:27573174   PMID:27604419   PMID:27932073   PMID:28679757   PMID:28726636   PMID:28928145   PMID:29108122   PMID:29195811  
PMID:29273476   PMID:29365280   PMID:29513927   PMID:29576317   PMID:29891674   PMID:29898893   PMID:30106450   PMID:30143555   PMID:30226619   PMID:30391945   PMID:30392072   PMID:30404007  
PMID:30547277   PMID:30596757   PMID:30634142   PMID:31276977   PMID:31461796   PMID:31480859   PMID:31492708   PMID:31515488   PMID:31548300   PMID:31802832   PMID:31877317   PMID:31988247  
PMID:32109412   PMID:32149134   PMID:32296183   PMID:32420343   PMID:32554464   PMID:32820063   PMID:32851082   PMID:33208231   PMID:33259938  


Genomics

Comparative Map Data
GSDMD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,553,207 - 143,563,062 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,553,387 - 143,563,062 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,635,557 - 144,645,232 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,711,635 - 144,716,375 (+)NCBINCBI36hg18NCBI36
Build 348144,712,102 - 144,716,372NCBI
Celera8140,945,843 - 140,955,486 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,886,817 - 139,896,607 (+)NCBIHuRef
CHM1_18144,675,788 - 144,685,442 (+)NCBICHM1_1
Gsdmd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,733,990 - 75,739,257 (+)NCBIGRCm39mm39
GRCm39 Ensembl1575,734,176 - 75,739,257 (+)Ensembl
GRCm381575,862,144 - 75,867,408 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,862,327 - 75,867,408 (+)EnsemblGRCm38mm10GRCm38
MGSCv371575,692,769 - 75,697,834 (+)NCBIGRCm37mm9NCBIm37
MGSCv361575,689,594 - 75,694,659 (+)NCBImm8
Celera1577,363,199 - 77,368,383 (+)NCBICelera
Cytogenetic Map15D3NCBI
Gsdmd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,542,242 - 107,547,052 (+)NCBI
Rnor_6.0 Ensembl7116,889,572 - 116,894,134 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,889,147 - 116,894,134 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,781,947 - 116,786,875 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,832,420 - 113,837,007 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17113,847,420 - 113,871,239 (+)NCBI
Celera7103,902,119 - 103,906,706 (+)NCBICelera
Cytogenetic Map7q34NCBI
Gsdmd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,265,753 - 2,271,655 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,265,759 - 2,270,569 (+)NCBIChiLan1.0ChiLan1.0
GSDMD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,321,800 - 143,331,455 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,326,319 - 143,331,455 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,311,042 - 140,316,084 (+)NCBIMhudiblu_PPA_v0panPan3
GSDMD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,221,219 - 37,226,912 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,193,022 - 37,228,360 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,178,091 - 37,183,803 (+)NCBI
ROS_Cfam_1.01337,693,423 - 37,699,140 (+)NCBI
UMICH_Zoey_3.11337,367,765 - 37,373,478 (+)NCBI
UNSW_CanFamBas_1.01337,484,726 - 37,490,434 (+)NCBI
UU_Cfam_GSD_1.01337,965,884 - 37,971,607 (+)NCBI
Gsdmd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,141,008 - 1,145,358 (-)NCBI
SpeTri2.0NW_0049364708,567,085 - 8,571,448 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GSDMD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4995,763 - 1,003,058 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14995,753 - 1,001,964 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,054,277 - 1,057,736 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GSDMD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,778,290 - 137,783,542 (+)NCBI
Vero_WHO_p1.0NW_0236660392,110,335 - 2,115,465 (-)NCBI
Gsdmd
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,187,810 - 13,192,843 (-)NCBI

Position Markers
D8S2072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,645,037 - 144,645,185UniSTSGRCh37
Build 368144,716,180 - 144,716,328RGDNCBI36
Celera8140,955,291 - 140,955,439RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,896,412 - 139,896,560UniSTS
WI-8705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,645,037 - 144,645,158UniSTSGRCh37
Build 368144,716,180 - 144,716,301RGDNCBI36
Celera8140,955,291 - 140,955,412RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,896,412 - 139,896,533UniSTS
GeneMap99-GB4 RH Map8563.95UniSTS
Whitehead-RH Map8712.2UniSTS
NCBI RH Map81600.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4990
Count of miRNA genes:919
Interacting mature miRNAs:1145
Transcripts:ENST00000262580, ENST00000524846, ENST00000525208, ENST00000525721, ENST00000526051, ENST00000526406, ENST00000526469, ENST00000528475, ENST00000529854, ENST00000531173, ENST00000531184, ENST00000533063, ENST00000533348, ENST00000533888, ENST00000534018, ENST00000534602
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2418 2736 1707 617 1902 458 3544 1279 1262 402 1332 1529 173 1 1204 2045 4 2
Low 17 255 16 6 45 6 810 914 2459 15 118 63 1 743 2
Below cutoff 3 2 1 4 1 3 9 2 7 19 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001166237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC067930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF318341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY008304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC398191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262580   ⟹   ENSP00000262580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,558,346 - 143,563,062 (+)Ensembl
RefSeq Acc Id: ENST00000524846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,558,689 - 143,563,059 (+)Ensembl
RefSeq Acc Id: ENST00000525208   ⟹   ENSP00000433263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,562,050 - 143,563,062 (+)Ensembl
RefSeq Acc Id: ENST00000525721   ⟹   ENSP00000434452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,558,354 - 143,559,902 (+)Ensembl
RefSeq Acc Id: ENST00000526051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,560,861 - 143,561,878 (+)Ensembl
RefSeq Acc Id: ENST00000526406   ⟹   ENSP00000433209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,553,207 - 143,563,062 (+)Ensembl
RefSeq Acc Id: ENST00000526469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,560,628 - 143,563,032 (+)Ensembl
RefSeq Acc Id: ENST00000528475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,560,040 - 143,563,059 (+)Ensembl
RefSeq Acc Id: ENST00000529854   ⟹   ENSP00000432351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,553,707 - 143,559,479 (+)Ensembl
RefSeq Acc Id: ENST00000531173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,561,730 - 143,563,027 (+)Ensembl
RefSeq Acc Id: ENST00000531184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,558,338 - 143,563,055 (+)Ensembl
RefSeq Acc Id: ENST00000533063   ⟹   ENSP00000433958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,557,913 - 143,563,062 (+)Ensembl
RefSeq Acc Id: ENST00000533348   ⟹   ENSP00000434386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,557,886 - 143,560,686 (+)Ensembl
RefSeq Acc Id: ENST00000533888   ⟹   ENSP00000437065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,558,558 - 143,560,653 (+)Ensembl
RefSeq Acc Id: ENST00000534018   ⟹   ENSP00000436684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,558,371 - 143,561,788 (+)Ensembl
RefSeq Acc Id: ENST00000534602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,561,358 - 143,562,362 (+)Ensembl
RefSeq Acc Id: NM_001166237   ⟹   NP_001159709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,553,387 - 143,563,062 (+)NCBI
GRCh378144,635,383 - 144,645,232 (+)NCBI
Celera8140,945,843 - 140,955,486 (+)RGD
HuRef8139,886,817 - 139,896,607 (+)ENTREZGENE
CHM1_18144,675,788 - 144,685,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024736   ⟹   NP_079012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,558,346 - 143,563,062 (+)NCBI
GRCh378144,635,383 - 144,645,232 (+)NCBI
Build 368144,711,635 - 144,716,375 (+)NCBI Archive
Celera8140,945,843 - 140,955,486 (+)RGD
HuRef8139,886,817 - 139,896,607 (+)ENTREZGENE
CHM1_18144,680,687 - 144,685,442 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517301   ⟹   XP_011515603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,558,346 - 143,563,062 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001159709   ⟸   NM_001166237
- UniProtKB: P57764 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_079012   ⟸   NM_024736
- UniProtKB: P57764 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515603   ⟸   XM_011517301
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000434386   ⟸   ENST00000533348
RefSeq Acc Id: ENSP00000433958   ⟸   ENST00000533063
RefSeq Acc Id: ENSP00000437065   ⟸   ENST00000533888
RefSeq Acc Id: ENSP00000436684   ⟸   ENST00000534018
RefSeq Acc Id: ENSP00000433263   ⟸   ENST00000525208
RefSeq Acc Id: ENSP00000434452   ⟸   ENST00000525721
RefSeq Acc Id: ENSP00000433209   ⟸   ENST00000526406
RefSeq Acc Id: ENSP00000262580   ⟸   ENST00000262580
RefSeq Acc Id: ENSP00000432351   ⟸   ENST00000529854
Protein Domains
Gasdermin   Gasdermin_C

Promoters
RGD ID:7214353
Promoter ID:EPDNEW_H12922
Type:initiation region
Name:GSDMD_1
Description:gasdermin D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,558,354 - 143,558,414EPDNEW
RGD ID:6806788
Promoter ID:HG_KWN:62263
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC010MFE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,705,761 - 144,706,972 (+)MPROMDB
RGD ID:6806797
Promoter ID:HG_KWN:62265
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003YYF.1,   UC003YYG.1,   UC003YYH.1,   UC003YYI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,711,454 - 144,711,954 (+)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 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 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
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 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 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:144589991-144645202)x1 copy number loss See cases [RCV000448971] Chr8:144589991..144645202 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_024736.7(GSDMD):c.410+13AGGGC[5] microsatellite not specified [RCV000454633] Chr8:143559981..143559982 [GRCh38]
Chr8:144642151..144642152 [GRCh37]
Chr8:8q24.3
benign
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
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 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
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
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621035-144713934)x0 copy number loss not provided [RCV000747936] Chr8:144621035..144713934 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621084-144638839)x0 copy number loss not provided [RCV000747937] Chr8:144621084..144638839 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621839-144694067)x3 copy number gain not provided [RCV000747938] Chr8:144621839..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144685178)x3 copy number gain not provided [RCV000747939] Chr8:144623574..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144687901)x3 copy number gain not provided [RCV000747940] Chr8:144623574..144687901 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144694067)x3 copy number gain not provided [RCV000747941] Chr8:144623574..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144634337-144636272)x0 copy number loss not provided [RCV000747942] Chr8:144634337..144636272 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144651881)x3 copy number gain not provided [RCV000747943] Chr8:144641370..144651881 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144685178)x3 copy number gain not provided [RCV000747944] Chr8:144641370..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144694067)x3 copy number gain not provided [RCV000747945] Chr8:144641370..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144695499)x3 copy number gain not provided [RCV000747946] Chr8:144641370..144695499 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641949-144688309)x3 copy number gain not provided [RCV000747947] Chr8:144641949..144688309 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144644919)x4 copy number gain not provided [RCV000747948] Chr8:144642054..144644919 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144650013)x3 copy number gain not provided [RCV000747949] Chr8:144642054..144650013 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144685178)x3 copy number gain not provided [RCV000747950] Chr8:144642054..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144686512)x3 copy number gain not provided [RCV000747951] Chr8:144642054..144686512 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642918-144644919)x4 copy number gain not provided [RCV000747952] Chr8:144642918..144644919 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642918-144685178)x3 copy number gain not provided [RCV000747953] Chr8:144642918..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644648-144689146)x3 copy number gain not provided [RCV000747954] Chr8:144644648..144689146 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644686-144672215)x3 copy number gain not provided [RCV000747955] Chr8:144644686..144672215 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644970-144672215)x3 copy number gain not provided [RCV000747956] Chr8:144644970..144672215 [GRCh37]
Chr8:8q24.3
benign
NM_024736.7(GSDMD):c.1207G>A (p.Glu403Lys) single nucleotide variant not provided [RCV000880868] Chr8:143562516 [GRCh38]
Chr8:144644686 [GRCh37]
Chr8:8q24.3
benign
NM_024736.7(GSDMD):c.1357A>G (p.Thr453Ala) single nucleotide variant not provided [RCV000963915] Chr8:143562806 [GRCh38]
Chr8:144644976 [GRCh37]
Chr8:8q24.3
benign
NM_024736.7(GSDMD):c.1187A>G (p.Gln396Arg) single nucleotide variant not provided [RCV000961157] Chr8:143562496 [GRCh38]
Chr8:144644666 [GRCh37]
Chr8:8q24.3
benign
NM_024736.7(GSDMD):c.9G>T (p.Ser3=) single nucleotide variant not provided [RCV000962362] Chr8:143559344 [GRCh38]
Chr8:144641514 [GRCh37]
Chr8:8q24.3
benign
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 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
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
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 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_024736.7(GSDMD):c.746G>A (p.Arg249His) single nucleotide variant not provided [RCV000886682] Chr8:143561751 [GRCh38]
Chr8:144643921 [GRCh37]
Chr8:8q24.3
benign
NM_024736.7(GSDMD):c.19C>A (p.Arg7=) single nucleotide variant not provided [RCV000950422] Chr8:143559354 [GRCh38]
Chr8:144641524 [GRCh37]
Chr8:8q24.3
likely benign
NM_024736.7(GSDMD):c.1242G>A (p.Pro414=) single nucleotide variant not provided [RCV000912461] Chr8:143562691 [GRCh38]
Chr8:144644861 [GRCh37]
Chr8:8q24.3
likely 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
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25697 AgrOrtholog
COSMIC GSDMD COSMIC
Ensembl Genes ENSG00000104518 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278718 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262580 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432351 UniProtKB/TrEMBL
  ENSP00000433209 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433263 UniProtKB/TrEMBL
  ENSP00000433958 UniProtKB/TrEMBL
  ENSP00000434386 UniProtKB/TrEMBL
  ENSP00000434452 UniProtKB/TrEMBL
  ENSP00000436684 UniProtKB/TrEMBL
  ENSP00000437065 UniProtKB/TrEMBL
  ENSP00000482096 UniProtKB/Swiss-Prot
  ENSP00000486410 UniProtKB/TrEMBL
  ENSP00000487774 UniProtKB/TrEMBL
  ENSP00000487934 UniProtKB/TrEMBL
  ENSP00000488012 UniProtKB/Swiss-Prot
  ENSP00000488049 UniProtKB/TrEMBL
  ENSP00000488317 UniProtKB/TrEMBL
  ENSP00000488419 UniProtKB/TrEMBL
  ENSP00000488563 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262580 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000525208 UniProtKB/TrEMBL
  ENST00000525721 UniProtKB/TrEMBL
  ENST00000526406 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529854 UniProtKB/TrEMBL
  ENST00000533063 UniProtKB/TrEMBL
  ENST00000533348 UniProtKB/TrEMBL
  ENST00000533888 UniProtKB/TrEMBL
  ENST00000534018 UniProtKB/TrEMBL
  ENST00000615119 UniProtKB/Swiss-Prot
  ENST00000628703 UniProtKB/TrEMBL
  ENST00000631389 UniProtKB/TrEMBL
  ENST00000631550 UniProtKB/TrEMBL
  ENST00000631751 UniProtKB/Swiss-Prot
  ENST00000631917 UniProtKB/TrEMBL
  ENST00000632347 UniProtKB/TrEMBL
  ENST00000632705 UniProtKB/TrEMBL
  ENST00000633391 UniProtKB/TrEMBL
GTEx ENSG00000104518 GTEx
  ENSG00000278718 GTEx
HGNC ID HGNC:25697 ENTREZGENE
Human Proteome Map GSDMD 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:79792 UniProtKB/Swiss-Prot
NCBI Gene 79792 ENTREZGENE
OMIM 617042 OMIM
PANTHER PTHR16399 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gasdermin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gasdermin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162390357 PharmGKB
UniProt E9PIB2_HUMAN UniProtKB/TrEMBL
  E9PNZ0_HUMAN UniProtKB/TrEMBL
  E9PQ48_HUMAN UniProtKB/TrEMBL
  E9PQR9_HUMAN UniProtKB/TrEMBL
  E9PRF1_HUMAN UniProtKB/TrEMBL
  G3V1A6_HUMAN UniProtKB/TrEMBL
  GSDMD_HUMAN UniProtKB/Swiss-Prot
  H0YDB0_HUMAN UniProtKB/TrEMBL
  P57764 ENTREZGENE
UniProt Secondary A8K702 UniProtKB/Swiss-Prot
  D3DWJ9 UniProtKB/Swiss-Prot
  Q96Q98 UniProtKB/Swiss-Prot