Annotation Detail for SNRPD3

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Basic Information Top

Gene Symbol:	SNRPD3 ( SMD3,Sm-D3 )
Gene Full Name:	small nuclear ribonucleoprotein D3 polypeptide 18kDa
Band:	22q11.23
Quick Links	Entrez ID:6634; OMIM: 601062; Uniprot ID:SMD3_HUMAN; ENSEMBL ID: ENSG00000100028; HGNC ID: 11160
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:1 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:4 results

Location(AA)	Modification
97	Omega-N-methylated arginine.

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

RefSeq ID: NM_004175
Location:chr22 23281617-23298508
strand:+

Upstream the gene:2 results
Downstream the gene:0 results
Inside the gene:16 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ETS1	Jurkat	GSE17954	23280538	23282496	1958	101
Rb	Quiescent	GSE19898	23281137	23282077	940	11

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3K4me3	colorectal	cancer	23281953	23282990	1037	0
H3ac	HepG2	E	23281365	23284375	3010	0
H3ac	HepG2	E	23284839	23285518	679	0
KLF4	hES	GSE17917	23297264	23297418	154	0
NFkBII	GM12878	GSE19485	23293353	23294391	1038	0
NFkBII	GM18526	GSE19485	23293591	23294255	664	0
PHF8	Hs68minusFBS	GSE20725	23281419	23282373	954	0
Rb	Growing	GSE19898	23281326	23282036	710	0
Rb	Quiescent	GSE19898	23282097	23282200	103	0
Rb	Senescent	GSE19898	23281231	23282323	1092	0
Rb	shRbQuiescent	GSE19898	23281674	23281987	313	0
Rb	shRbSenescence	GSE19898	23281349	23281898	549	0
p130	Quiescent	GSE19898	23281239	23282249	1010	0
p130	Senescent	GSE19898	23281293	23282253	960	0
p130	shRbQuiescent	GSE19898	23281394	23282243	849	0
p130	shRbSenescent	GSE19898	23281213	23282328	1115	0

Validated miRNA targets

Cis-Nats regulation

Cluster ID	Plue Type	Plus Gene Name	Plus Chromosome	Plus Start	Plus End	Overlap Length	Minus Type	Minus Gene Name	Minus Chromosome	Minus Star	Minus End	Type
17260	mRNA	SNRPD3	chr22	23276171	23293063	279	EST		chr22	23264477	23276450	Sense/Antisense (SA) pairs

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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