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 Links	Entrez ID:79792; OMIM: NA; Uniprot ID:GSDMD_HUMAN; ENSEMBL ID: ENSG00000104518; HGNC ID: 25697
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:3 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
37	Phosphotyrosine.
158	Phosphotyrosine.
250	Phosphoserine.

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_024736
Location:chr8 144711634-144716371
strand:+

Upstream the gene:4 results
Downstream the gene:8 results
Inside the gene:3 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
NRSF	pAb	Jurkat	144703374	144703773	399	8061
hScc1	Bcell	GSE12603	144706045	144707346	1301	4939
hScc1	Bcell	GSE12603	144708115	144708390	275	3382
p130	shRbQuiescent	GSE19898	144706580	144707272	692	4709

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
NRSF	pAb	Jurkat	144718669	144719487	818	2707
NRSF	pAb	Jurkat	144720062	144720699	637	4009
NRSF	pAb	Jurkat	144721913	144722210	297	5690
Rb	shRbQuiescent	GSE19898	144719056	144719358	302	2836
hScc1	Bcell	GSE12603	144720358	144720877	519	4246
hScc1	Bcell	GSE12603	144721852	144722189	337	5649
hScc1	CdLS	GSE12603	144720392	144720804	412	4227
hScc1	G2	GSE9613	144721983	144722210	227	5725

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
NRSF	pAb	Jurkat	144711743	144712747	1004	0
hScc1	Bcell	GSE12603	144711707	144712187	480	0
hScc1	Bcell	GSE12603	144713968	144714265	297	0

Validated miRNA targets

Cis-Nats regulation

Simple Query:

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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