Annotation Detail for SBDS

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Basic Information Top

Gene Symbol:	SBDS ( FLJ10917,SDS,SWDS )
Gene Full Name:	Shwachman-Bodian-Diamond syndrome
Band:	7q11.21
Quick Links	Entrez ID:51119; OMIM: 607444; Uniprot ID:SBDS_HUMAN; ENSEMBL ID: ENSG00000126524; HGNC ID: 19440
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:1 results
Predicted PTM Sites by profile HMM from dbPTM:2 results

Location(AA)	Modification
2	N-acetylserine.
124	Phosphothreonine.
128	Phosphotyrosine.

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

RefSeq ID: NM_016038
Location:chr7 66090124-66098022
strand:-

Upstream the gene:2 results
Downstream the gene:1 results
Inside the gene:13 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ETS1	Jurkat	GSE17954	66097111	66099755	2644	411
FoxA1	MCF7	MACSdata	66098006	66098216	210	89

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Fos	K562	GSE19551	66077515	66078029	514	12353

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	66097186	66098042	856	0
GABP	k562	GSE8489	66097636	66098233	597	0
H3K4me3	colorectal	cancer	66096317	66096879	562	0
H3ac	HepG2	E	66096317	66096879	562	0
H3ac	HepG2	E	66097186	66097930	744	0
PHF8	HeLa	GSE20725	66097318	66098160	842	0
Pol2	GM12878	GSE19551	66097608	66098229	621	0
TAF	Hela	GSE8489	66097186	66097858	672	0
TAF	k562	GSE8489	66097186	66098122	936	0
hScc1	Bcell	GSE12603	66097186	66098004	818	0
hScc1	CdLS	GSE12603	66097186	66097858	672	0
hScc1	G2	GSE9613	66097186	66098042	856	0
p130	shRbQuiescent	GSE19898	66097519	66098083	564	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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