Annotation Detail for NUP188

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Basic Information Top

Gene Symbol:	NUP188 ( FLJ21639,KIAA0169 )
Gene Full Name:	nucleoporin 188kDa
Band:	9q34.11
Quick Links	Entrez ID:23511; OMIM: NA; Uniprot ID:NU188_HUMAN; ENSEMBL ID: ENSG00000095319; HGNC ID: 17859
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:6 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
2	N-acetylalanine.
38	N6-acetyllysine.
1708	Phosphoserine.
1709	Phosphoserine.
1712	Phosphothreonine.
1717	Phosphoserine.

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

RefSeq ID: NM_015354
Location:chr9 130749797-130809194
strand:+

Upstream the gene:0 results
Downstream the gene:0 results
Inside the gene:13 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	130808952	130809205	253	0
CTCF	CD4	SISSRdata	130808952	130809205	253	0
GABP	k562	GSE8489	130758400	130759009	609	0
NFkBII	GM12892	GSE19485	130748994	130750815	1821	0
NFkBII	GM15510	GSE19485	130749018	130750878	1860	0
NFkBII	GM18526	GSE19485	130749072	130750863	1791	0
NRSF	Jurkat	SISSRdata	130788654	130788873	219	0
PHF8	Hs68plusFBS	GSE20725	130749001	130750885	1884	0
TAF	k562	GSE8489	130751133	130751378	245	0
TAF	k562	GSE8489	130758400	130759123	723	0
USF1	HepG2	E	130751133	130751378	245	0
VDR	GM10861-Unstim	GSE22484	130749133	130750972	1839	0
hScc1	Bcell	GSE12603	130750055	130750341	286	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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