AutismKB 2.0

Annotation Detail for P4HA1


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Basic Information Top
Gene Symbol:P4HA1 ( P4HA )
Gene Full Name: prolyl 4-hydroxylase, alpha polypeptide I
Band: 10q22.1
Quick LinksEntrez ID:5033; OMIM: 176710; Uniprot ID:P4HA1_HUMAN; ENSEMBL ID: ENSG00000122884; HGNC ID: 8546
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
113N-linked (GlcNAc...).
259N-linked (GlcNAc...).
Location(AA) Modifications Resource
113N-linked (GlcNAc...).Swiss-Prot 53.0
259N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
45Phosphotyrosine(INSR)HMM predict
113N-linkedHMM predict
180SulfotyrosineHMM predict
259N-linkedHMM predict
272Phosphothreonine(CDC2)HMM predict
272Phosphothreonine(CDK)HMM predict
272PhosphothreonineHMM predict
272Phosphothreonine(MAPK)HMM predict
301Phosphothreonine(CDC2)HMM predict
345Phosphoserine(CK2)HMM predict
364Phosphothreonine(PKA)HMM predict
389Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000917
  • Location:chr10 74436987-74526629
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 CdLSGSE12603 74526424 74527092 668 129
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 74459596 74459638 42 0
H3K4me3 colorectalcancer 74525233 74525839 606 0
H3ac HepG2E 74524449 74526377 1928 0
HIF1 HypoHepG2 74525920 74527128 1208 0
Nanog ESGSE20650 74474727 74475061 334 0
Oct1 H2O2-HelaGSE14283 74459595 74459637 42 0
Oct1 H2O2-HelaGSE14283 74478823 74478853 30 0
Oct1 H2O2-HelaGSE14283 74523545 74523572 27 0
Oct1 HelaGSE14283 74459595 74459641 46 0
Oct1 HelaGSE14283 74471381 74471416 35 0
Oct1 HelaGSE14283 74524172 74524203 31 0
PHF8 HeLaGSE20725 74525562 74527202 1640 0
PHF8 Hs68minusFBSGSE20725 74526180 74527010 830 0
PHF8 Hs68plusFBSGSE20725 74524928 74527183 2255 0
TAF k562GSE8489 74523752 74526083 2331 0
TFAP2C MCF7GSE21234 74525612 74526142 530 0
hScc1 BcellGSE12603 74526261 74526843 582 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

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