Annotation Detail for PDIA6

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	PDIA6 ( ERP5,P5,TXNDC7 )
Gene Full Name:	protein disulfide isomerase family A, member 6
Band:	2p25.1
Quick Links	Entrez ID:10130; OMIM: 611099; Uniprot ID:PDIA6_HUMAN; ENSEMBL ID: ENSG00000143870; HGNC ID: 30168
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:2 results
Predicted PTM Sites by profile HMM from dbPTM:9 results

Location(AA)	Modification
428	Phosphoserine.
440	Prevents secretion from ER (Potential).

Location(AA)	Modification	Resource
24	Phosphoserine(ATM)	HMM predict
31	Phosphothreonine(MAPK)	HMM predict
55	S-palmitoyl	HMM predict
146	Phosphotyrosine(INSR)	HMM predict
146	Phosphotyrosine(Jak)	HMM predict
158	Phosphoserine(CK1)	HMM predict
190	S-palmitoyl	HMM predict
259	Phosphoserine(PKB)	HMM predict
315	Phosphoserine(PKG)	HMM predict

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

RefSeq ID: NM_005742
Location:chr2 10840969-10870410
strand:-

Upstream the gene:19 results
Downstream the gene:0 results
Inside the gene:10 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	10875027	10875235	208	4721
CTCF	CD4	GSE12889	10889874	10890340	466	19697
CTCF	CD4	SISSRdata	10875027	10875235	208	4721
CTCF	CD4	SISSRdata	10889874	10890340	466	19697
CTCF	Hela	GSE12889	10889857	10890184	327	19610
CTCF	Jurkat	GSE12889	10889853	10890240	387	19636
CTCF	G2	GSE9613	10872317	10872963	646	2230
CTCF	G2	GSE9613	10885859	10886245	386	15642
CTCF	G2	GSE9613	10887895	10888619	724	17847
CTCF	G2	GSE9613	10889703	10890336	633	19609
Fos	K562	GSE19551	10870253	10870787	534	110
GABP	k562	GSE8489	10872495	10872963	468	2319
H3ac	HepG2	E	10871670	10872317	647	1583
Myc	K562	GSE19551	10889802	10890300	498	19641
Rb	Quiescent	GSE19898	10889793	10890024	231	19498
TAF	k562	GSE8489	10872495	10872963	468	2319
hScc1	Bcell	GSE12603	10889351	10890336	985	19433
hScc1	CdLS	GSE12603	10889969	10890381	412	19765
hScc1	G2	GSE9613	10889969	10890336	367	19742

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	10845174	10845312	138	0
CTCF	CD4	SISSRdata	10845174	10845312	138	0
CTCF	G2	GSE9613	10852992	10853336	344	0
CTCF	G2	GSE9613	10856202	10856721	519	0
CTCF	G2	GSE9613	10869795	10870564	769	0
H3ac	HepG2	E	10867469	10868791	1322	0
H3ac	HepG2	E	10869264	10869469	205	0
PHF8	HeLa	GSE20725	10869539	10870776	1237	0
hScc1	Bcell	GSE12603	10869795	10870516	721	0
hScc1	CdLS	GSE12603	10845074	10845324	250	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
13916	mRNA	ATP6V1C2	chr2	10812420	10875832	1031	mRNA	PDIA6	chr2	10874116	10903558	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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