AutismKB 2.0

Annotation Detail for PDP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PDP1 ( FLJ32517,FLJ56179,MGC119646,PDH,PDP,PDPC,PPM2C )
Gene Full Name: pyruvate dehyrogenase phosphatase catalytic subunit 1
Band: 8q22.1
Quick LinksEntrez ID:54704; OMIM: 605993; Uniprot ID:PDP1_HUMAN; ENSEMBL ID: ENSG00000164951; HGNC ID: 9279
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
202N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
71Phosphotyrosine(EGFR)HMM predict
71Phosphotyrosine(Abl)HMM predict
79Phosphotyrosine(Syk)HMM predict
152Phosphoserine(ATM)HMM predict
227PhosphoserineHMM predict
248Phosphoserine(CK1)HMM predict
304Phosphoserine(IKK)HMM predict
381Phosphotyrosine(EGFR)HMM predict
381Phosphotyrosine(INSR)HMM predict
463Phosphothreonine(PKC)HMM predict
467Phosphothreonine(PKC)HMM predict
531GlycineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018444
  • Location:chr8 94998337-95007469
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 94982110 94982146 36 16210
H3K4me2 HCT116GSE10453 94996898 94997667 769 1055
H3K4me3 colorectalcancer 94997268 94997633 365 887
Oct1 H2O2-HelaGSE14283 94982111 94982146 35 16209
Oct1 HelaGSE14283 94982035 94982070 35 16285
Oct1 HelaGSE14283 94982111 94982147 36 16209
PHF8 293TGSE20725 94997457 94998965 1508 127
PHF8 HeLaGSE20725 94997468 94999027 1559 90
RARA MCF7GSE15244 94996863 94997633 770 1090
USF1 HepG2E 94993533 94994853 1320 4145
USF1 HepG2E 94996447 94998123 1676 1053
USF2 HepG2E 94996335 94998067 1732 1137
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 95013663 95014221 558 6473
FOXA1 MCF7GSE15244 95010549 95010832 283 3221
FOXA1 MCF7GSE15244 95013663 95014332 669 6528
FoxA1 MCF7MACSdata 95017499 95017624 125 10092
Oct1 HelaGSE14283 95009440 95009474 34 1988
Oct1 HelaGSE14283 95015691 95015729 38 8241
RARA MCF7GSE15244 95010549 95010975 426 3293
RARA MCF7GSE15244 95013663 95014332 669 6528
RARG MCF7GSE15244 95010549 95010869 320 3240
RARG MCF7GSE15244 95013663 95014332 669 6528
STAT1 HeLaGSE12783 95025049 95025944 895 18027
TFAP2C MCF7GSE21234 95025177 95025806 629 18022
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 94997888 94999230 1342 0
FOXA1 MCF7GSE15244 94999297 94999556 259 0
FOXA1 MCF7GSE15244 95003522 95003887 365 0
Myc hESGSE17917 94998814 94999215 401 0
Rb GrowingGSE19898 94999075 94999304 229 0
Rb SenescentGSE19898 94998944 94999355 411 0
p130 QuiescentGSE19898 94998985 94999335 350 0
p130 shRbSenescentGSE19898 94999012 94999407 395 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