Annotation Detail for PHF5A

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	PHF5A ( INI,MGC1346,Rds3,SAP14b,SF3b14b,bK223H9.2 )
Gene Full Name:	PHD finger protein 5A
Band:	22q13.2
Quick Links	Entrez ID:84844; OMIM: NA; Uniprot ID:PHF5A_HUMAN; ENSEMBL ID: ENSG00000100410; HGNC ID: 18000
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:2 results

Location(AA)	Modification
3	N6-acetyllysine.

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

RefSeq ID: NM_032758
Location:chr22 40185667-40194653
strand:-

Upstream the gene:11 results
Downstream the gene:0 results
Inside the gene:8 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Fos	K562	GSE19551	40194396	40194953	557	21
H3ac	HepG2	E	40193132	40196453	3321	139
P300	T30-glioblastoma	GSE21026	40193765	40195607	1842	33
PHF8	HeLa	GSE20725	40194067	40195627	1560	194
Rb	Quiescent	GSE19898	40194104	40195218	1114	8
Rb	Senescent	GSE19898	40194140	40195574	1434	204
TFAP2C	MCF7	GSE21234	40194188	40195332	1144	107
p130	Quiescent	GSE19898	40194305	40195328	1023	163
p130	Senescent	GSE19898	40194251	40195227	976	86
p130	shRbQuiescent	GSE19898	40194438	40195246	808	189
p130	shRbSenescent	GSE19898	40194237	40195321	1084	126

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
FOXA1	MCF7	GSE15244	40194213	40195016	803	0
GABP	k562	GSE8489	40193132	40194955	1823	0
H3K4me2	HCT116	GSE10453	40193132	40194213	1081	0
H3K4me3	colorectal	cancer	40193248	40194150	902	0
KLF4	hES	GSE17917	40194356	40194516	160	0
Rb	Growing	GSE19898	40194253	40194826	573	0
Rb	shRbQuiescent	GSE19898	40194367	40194618	251	0
Rb	shRbSenescence	GSE19898	40194216	40194729	513	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

Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved