Annotation Detail for PPWD1

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Basic Information Top

Gene Symbol:	PPWD1 ( KIAA0073 )
Gene Full Name:	peptidylprolyl isomerase domain and WD repeat containing 1
Band:	5q12.3
Quick Links	Entrez ID:23398; OMIM: NA; Uniprot ID:PPWD1_HUMAN; ENSEMBL ID: ENSG00000113593; HGNC ID: 28954
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:0 results
Predicted PTM Sites by profile HMM from dbPTM:15 results

Location(AA)	Modification
2	N-acetylalanine.

Location(AA)	Modification	Resource
257	Phosphotyrosine(Syk)	HMM predict
257	Phosphotyrosine(Abl)	HMM predict
257	Phosphotyrosine(SRC)	HMM predict
289	Phosphoserine(CDC2)	HMM predict
289	Phosphoserine(CDK)	HMM predict
424	Phosphoserine(PKG)	HMM predict
461	Phosphoserine(IKK)	HMM predict
474	Phosphoserine(CK1)	HMM predict
491	Phosphoserine(CK2)	HMM predict
491	Phosphoserine(PKA)	HMM predict
527	Phosphotyrosine(INSR)	HMM predict
527	Phosphotyrosine(Jak)	HMM predict
588	N-linked	HMM predict
635	Phosphotyrosine(Jak)	HMM predict
635	Phosphotyrosine(Syk)	HMM predict

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

RefSeq ID: NM_015342
Location:chr5 64894890-64919123
strand:+

Upstream the gene:3 results
Downstream the gene:0 results
Inside the gene:4 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	64894543	64895102	559	68
H3ac	HepG2	E	64893779	64895862	2083	70
PHF8	293T	GSE20725	64894140	64895565	1425	38

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3K4me3	colorectal	cancer	64894312	64895785	1473	0
H3ac	HepG2	E	64896213	64896697	484	0
P300	T30-glioblastoma	GSE21026	64894253	64895615	1362	0
RARA	MCF7	GSE15244	64894698	64895212	514	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
21030	mRNA	PPWD1	chr5	64894890	64919124	289	EST		chr5	64918645	64919335	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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