AutismKB 2.0

Annotation Detail for PDHA1


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Basic Information Top
Gene Symbol:PDHA1 ( PDHA,PDHCE1A,PHE1A )
Gene Full Name: pyruvate dehydrogenase (lipoamide) alpha 1
Band: Xp22.12
Quick LinksEntrez ID:5160; OMIM: 300502; Uniprot ID:ODPA_HUMAN; ENSEMBL ID: ENSG00000131828; HGNC ID: 8806
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
77N6-acetyllysine.
83N6-acetyllysine.
231Phosphothreonine.
232Phosphoserine.
289Phosphotyrosine.
293Phosphoserine.
295Phosphoserine.
300Phosphoserine.
301Phosphotyrosine.
321N6-acetyllysine.
336N6-acetyllysine.
Location(AA) Modifications Resource
232Phosphoserine.Swiss-Prot 53.0
232Phosphoserine (PDK
289Phosphotyrosine (By similarity).Swiss-Prot 53.0
293Phosphoserine.Swiss-Prot 53.0
293Phosphoserine (PDK
295PhosphoserinePhospho.ELM 6.0
295Phosphoserine (By similarity).Swiss-Prot 53.0
300Phosphoserine.Swiss-Prot 53.0
300Phosphoserine (PDK
301Phosphotyrosine (PKC alpha)Phospho.ELM 6.0
301Phosphotyrosine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
16Phosphoserine(ATM)HMM predict
109N-linkedHMM predict
242Phosphotyrosine(Syk)HMM predict
303Phosphothreonine(PKC)HMM predict
312Phosphoserine(CK1)HMM predict
354O-linkedHMM predict
354O-linkedHMM predict
371Phosphoserine(ATM)HMM predict
379GlycineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000284
  • Location:chrX 19271971-19287885
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 19262308 19262534 226 9551
ETS1 JurkatGSE17954 19271456 19272185 729 151
FOXA1 MCF7GSE15244 19271415 19271705 290 412
Fos K562GSE19551 19271548 19272070 522 163
Nanog hESGSE18292 19263183 19263389 206 8686
Nanog hESGSE18292 19271174 19271600 426 585
Oct1 H2O2-HelaGSE14283 19271693 19271733 40 259
Oct1 HelaGSE14283 19271693 19271733 40 259
RARA MCF7GSE15244 19271415 19271564 149 482
TAF k562GSE8489 19271415 19271601 186 464
TFAP2C MCF7GSE21234 19259903 19260365 462 11838
hScc1 CdLSGSE12603 19262068 19262451 383 9712
hScc1 G2GSE9613 19262264 19262451 187 9614
p130 QuiescentGSE19898 19271552 19271923 371 234
p130 SenescentGSE19898 19271392 19271906 514 323
p130 shRbQuiescentGSE19898 19271541 19271797 256 303
p130 shRbSenescentGSE19898 19271474 19271901 427 284
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 19271432 19272829 1397 0
p130 shRbSenescentGSE19898 19271999 19272385 386 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