AutismKB 2.0

Annotation Detail for GSDMD


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Basic Information Top
Gene Symbol:GSDMD ( DF5L,DFNA5L,FLJ12150,GSDMDC1 )
Gene Full Name: gasdermin D
Band: 8q24.3
Quick LinksEntrez ID:79792; OMIM: NA; Uniprot ID:GSDMD_HUMAN; ENSEMBL ID: ENSG00000104518; HGNC ID: 25697
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst1 / 6231916
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult159 / 193912181
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor4 / 34366116
chondrosarcoma8 / 8282396
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor6 / 26384522
glioma7 / 10688365
head and neck tumor15 / 136302110
kidney tumor3 / 6895943
leukemia17 / 95842177
liver tumor7 / 9635972
lung tumor3 / 10312729
lymphoma13 / 71755181
non-neoplasia21 / 97250215
normal235 / 336030769
ovarian tumor8 / 76682104
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor14 / 124949112
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland5 / 33197150
ascites0 / 400150 
bladder6 / 29757201
blood16 / 123478129
bone10 / 71655139
bone marrow4 / 4880181
brain25 / 110098922
cervix8 / 48171166
connective tissue19 / 149255127
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus1 / 2020949
eye6 / 21105428
heart2 / 8962622
intestine31 / 234472132
kidney14 / 21177766
larynx1 / 2414541
liver13 / 20774362
lung14 / 33697441
lymph1 / 4427022
lymph node8 / 9161087
mammary gland13 / 15327184
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary13 / 102051127
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta42 / 280825149
prostate15 / 18934579
salivary gland11 / 20155545
skin16 / 21057475
spleen18 / 53952333
stomach9 / 9661993
testis4 / 33044212
thymus78 / 81131961
thyroid4 / 4747384
tonsil5 / 16999294
trachea4 / 5241376
umbilical cord0 / 136800 
uterus25 / 232878107
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218154_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.45
Adipocyte6.05
AdrenalCortex6.75
Adrenalgland5.2
Amygdala5.05
Appendix6.2
AtrioventricularNode5.25
BDCA4+_DentriticCells50.3
Bonemarrow10.4
BronchialEpithelialCells4.45
CD105+_Endothelial18.35
CD14+_Monocytes98.15
CD19+_BCells(neg._sel.)62.55
CD33+_Myeloid71.8
CD34+75.15
CD4+_Tcells71.2
CD56+_NKCells116.2
CD71+_EarlyErythroid14.7
CD8+_Tcells84.05
CardiacMyocytes7.15
Caudatenucleus5.55
Cerebellum4.7
CerebellumPeduncles7
CiliaryGanglion4.55
CingulateCortex9.05
Colorectaladenocarcinoma12.6
DorsalRootGanglion5.3
FetalThyroid10.5
Fetalbrain5.9
Fetalliver5.3
Fetallung11.8
GlobusPallidus4.7
Heart10.8
Hypothalamus6.7
Kidney5.35
Leukemia_chronicMyelogenousK-5625.95
Leukemia_promyelocytic-HL-607.45
Leukemialymphoblastic(MOLT-4)13.6
Liver12.05
Lung25.25
Lymphnode16.65
Lymphoma_burkitts(Daudi)9.9
Lymphoma_burkitts(Raji)7.65
MedullaOblongata4.95
OccipitalLobe5.2
OlfactoryBulb5.05
Ovary4.75
Pancreas10.2
PancreaticIslet8.65
ParietalLobe6.35
Pituitary7.5
Placenta6.55
Pons5.75
PrefrontalCortex5.95
Prostate12.25
Salivarygland5.1
SkeletalMuscle6.5
Skin4.7
SmoothMuscle7.9
Spinalcord7.3
SubthalamicNucleus5.75
SuperiorCervicalGanglion6.6
TemporalLobe5.5
Testis5.25
TestisGermCell4.9
TestisIntersitial5.05
TestisLeydigCell5.7
TestisSeminiferousTubule5.5
Thalamus6.5
Thymus9.55
Thyroid13.5
Tongue6.5
Tonsil6.6
Trachea4.9
TrigeminalGanglion5.95
Uterus10.15
UterusCorpus5.15
WholeBlood23.9
Wholebrain3.35
colon6.1
pineal_day7.16
pineal_night5.88
retina7
small_intestine6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_17130_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.47 ± 0.95
Basal Forebrain1.77 ± 0.16
Basal Part of Pons1.72 ± 0.72
Cerebellar Cortex1.93 ± 1
Cerebellar Nuclei2.4 ± 1.12
Claustrum2.74 ± 0.84
Epithalamus2.47 ± 0.58
Frontal Lobe1.9 ± 0.87
Globus Pallidus2.96 ± 0.82
Hypothalamus1.84 ± 0.8
Insula1.91 ± 0.79
Limbic Lobe2.04 ± 0.94
Mesencephalon2.23 ± 0.95
Myelencephalon2.03 ± 0.84
Occipital Lobe2.22 ± 1.02
Parietal Lobe2.17 ± 1.11
Pontine Tegmentum2.03 ± 0.9
Striatum2.24 ± 0.75
Subthalamus2.01 ± 0.76
Temporal Lobe1.88 ± 0.81
Thalamus2.02 ± 0.78
White Matter2.11 ± 0.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gsdmdc1CBCerebellum3.94
4.58
Gsdmdc1CTXCerebral cortex2.17
2.42
Gsdmdc1HIPHippocampal region1.65
2.23
Gsdmdc1HPFHippocampal formation2.1
2.41
Gsdmdc1HYHypothalamus0.71
0.57
Gsdmdc1LSXLateral septal complex0.43
0.26
Gsdmdc1MBMidbrain2.5
2.42
Gsdmdc1MYMedulla8.54
9.97
Gsdmdc1OLFOlfactory bulb2.3
1.94
Gsdmdc1PPons5.65
6.06
Gsdmdc1PALPallidum1.18
0.91
Gsdmdc1RHPRetrohippocampal region2.66
2.49
Gsdmdc1sAMYStriatum-like amygdalar nuclei0.79
0.73
Gsdmdc1STRStriatum0.96
0.86
Gsdmdc1STRdStriatum dorsal region0.97
0.94
Gsdmdc1STRvStriatum ventral region1.17
0.81
Gsdmdc1THThalamus1.45
1.73
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GSDMD_HUMAN_141 11 141 151 QPEHKVLQQLR PRIDE
GSDMD_HUMAN_151 23 151 173 SRGDNVYVVTEVLQTQKEVEVTR PRIDE
GSDMD_HUMAN_306 15 306 320 ELCQLLLEGLEGVLR PRIDE
PAp00001461 21 56 76 CVNLSIKDILEPDAAEPDVQR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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