Annotation Detail for PITPNA

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Basic Information Top

Gene Symbol:	PITPNA ( MGC99649,PI-TPalpha,PITPN,VIB1A )
Gene Full Name:	phosphatidylinositol transfer protein, alpha
Band:	17p13.3
Quick Links	Entrez ID:5306; OMIM: 600174; Uniprot ID:PIPNA_HUMAN; ENSEMBL ID: ENSG00000174238; HGNC ID: 9001
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:2 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:7 results

Location(AA)	Modification
57	Phosphotyrosine.
215	N6-acetyllysine.

Location(AA)	Modification	Resource
32	N-linked	HMM predict
48	Phosphotyrosine(Syk)	HMM predict
102	Phosphotyrosine(INSR)	HMM predict
154	Phosphotyrosine(Syk)	HMM predict
189	Phosphotyrosine(INSR)	HMM predict
189	Phosphotyrosine(Jak)	HMM predict
197	Phosphothreonine(PKC)	HMM predict

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

RefSeq ID: NM_006224
Location:chr17 1368034-1412834
strand:-

Upstream the gene:2 results
Downstream the gene:1 results
Inside the gene:14 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
RARA	MCF7	GSE15244	1413789	1414582	793	1351
RARG	MCF7	GSE15244	1413789	1414480	691	1300

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3ac	HepG2	E	1367745	1368136	391	94

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	1383269	1383676	407	0
CTCF	CD4	SISSRdata	1383269	1383676	407	0
CTCF	G2	GSE9613	1411648	1412198	550	0
H3K4me2	HCT116	GSE10453	1410828	1411832	1004	0
H3ac	HepG2	E	1410613	1411861	1248	0
Myc	K562	GSE19551	1383331	1383693	362	0
PHF8	HeLa	GSE20725	1412075	1413223	1148	0
PHF8	Hs68plusFBS	GSE20725	1411737	1413186	1449	0
TAFII	hES	GSE17917	1383377	1383609	232	0
TFAP2C	MCF7	GSE21234	1411711	1411982	271	0
hScc1	Bcell	GSE12603	1383808	1384022	214	0
hScc1	Bcell	GSE12603	1384453	1384715	262	0
hScc1	Bcell	GSE12603	1406791	1407249	458	0
hScc1	Bcell	GSE12603	1411431	1412302	871	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
10450	EST		chr17	1367005	1368150	116	mRNA	PITPNA	chr17	1368034	1412835	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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