Annotation Detail for NAPSA

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Basic Information Top

Gene Symbol:	NAPSA ( KAP,Kdap,NAP1,NAPA,SNAPA )
Gene Full Name:	napsin A aspartic peptidase
Band:	19q13.33
Quick Links	Entrez ID:9476; OMIM: 605631; Uniprot ID:NAPSA_HUMAN; ENSEMBL ID: ENSG00000131400; HGNC ID: 13395
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:3 results
Predicted PTM Sites by profile HMM from dbPTM:5 results

Location(AA)	Modification
90	N-linked (GlcNAc...) (Potential).
133	N-linked (GlcNAc...) (Potential).
336	N-linked (GlcNAc...) (Potential).

Location(AA)	Modifications	Resource
90	N-linked (GlcNAc...) (Potential).	Swiss-Prot 53.0
133	N-linked (GlcNAc...) (Potential).	Swiss-Prot 53.0
336	N-linked (GlcNAc...) (Potential).	Swiss-Prot 53.0

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

RefSeq ID: NM_004851
Location:chr19 55553546-55560742
strand:-

Upstream the gene:14 results
Downstream the gene:8 results
Inside the gene:1 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	55563576	55563939	363	3015
CTCF	CD4	SISSRdata	55563576	55563939	363	3015
CTCF	G2	GSE9613	55563599	55564182	583	3148
Fos	K562	GSE19551	55563727	55564624	897	3433
PHF8	293T	GSE20725	55563455	55564945	1490	3458
hScc1	Bcell	GSE12603	55563599	55564117	518	3116
hScc1	CdLS	GSE12603	55563599	55564182	583	3148
hScc1	G2	GSE9613	55563599	55564182	583	3148
p130	Quiescent	GSE19898	55563878	55564230	352	3312
p130	Quiescent	GSE19898	55564320	55564619	299	3727
p130	Senescent	GSE19898	55563961	55564604	643	3540
p130	shRbQuiescent	GSE19898	55563742	55564683	941	3470
p130	shRbSenescent	GSE19898	55563709	55564204	495	3214
p130	shRbSenescent	GSE19898	55564272	55564536	264	3662

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	55552184	55552536	352	1187
CTCF	CD4	SISSRdata	55552184	55552536	352	1187
CTCF	G2	GSE9613	55552079	55552599	520	1208
Oct1	Hela	GSE14283	55547995	55548032	37	5533
Pol2	GM12878	GSE19551	55539522	55540434	912	13569
hScc1	Bcell	GSE12603	55552079	55552834	755	1090
hScc1	CdLS	GSE12603	55552079	55552834	755	1090
hScc1	G2	GSE9613	55552079	55552673	594	1171

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
VDR	GM10861-stim	GSE22484	55559440	55560307	867	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
13484	mRNA	NR1H2	chr19	55524760	55578048	7197	mRNA	NAPSA	chr19	55553546	55560743	Non-exonic Bidirectional (NOB) 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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