AutismKB 2.0

Annotation Detail for ATP5H


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Basic Information Top
Gene Symbol:ATP5H ( ATPQ )
Gene Full Name: ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d
Band: 17q25.1
Quick LinksEntrez ID:10476; OMIM: NA; Uniprot ID:ATP5H_HUMAN; ENSEMBL ID: ENSG00000167863; HGNC ID: 845
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine (By similarity).
63N6-acetyllysine (By similarity).
78N6-acetyllysine (By similarity).
85N6-acetyllysine.
95N6-acetyllysine.
99N6-acetyllysine (By similarity).
117N6-acetyllysine.
149N6-acetyllysine.
Location(AA) Modifications Resource
2N-acetylalanine (By similarity).Swiss-Prot 53.0
63N6-acetyllysine (By similarity).Swiss-Prot 53.0
78N6-acetyllysine (By similarity).Swiss-Prot 53.0
85N6-acetyllysine (By similarity).Swiss-Prot 53.0
99N6-acetyllysine (By similarity).Swiss-Prot 53.0
117N6-acetyllysine (By similarity).Swiss-Prot 53.0
149N6-acetyllysine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
33Phosphoserine(IKK)HMM predict
35N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001003785
  • Location:chr17 70546549-70554668
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 70554281 70555122 841 33
P300 T30-glioblastomaGSE21026 70554197 70555281 1084 71
PHF8 HeLaGSE20725 70554007 70555467 1460 69
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 70541863 70542307 444 4465
H3ac HepG2E 70538967 70539299 332 7417
PHF8 Hs68minusFBSGSE20725 70541053 70543126 2073 4460
PHF8 Hs68plusFBSGSE20725 70541086 70543275 2189 4369
Pol3 GM12878GSE19551 70542588 70543136 548 3688
RARA MCF7GSE15244 70542956 70543200 244 3472
RARG MCF7GSE15244 70542956 70543200 244 3472
Rb SenescentGSE19898 70541240 70541765 525 5047
Rb shRbSenescenceGSE19898 70541398 70541632 234 5035
USF1 HepG2E 70540736 70543200 2464 4582
hScc1 BcellGSE12603 70541749 70543166 1417 4092
p130 SenescentGSE19898 70542093 70542587 494 4210
p130 shRbQuiescentGSE19898 70541898 70542610 712 4296
p130 shRbQuiescentGSE19898 70542631 70543221 590 3624
p130 shRbSenescentGSE19898 70541142 70541681 539 5138
p130 shRbSenescentGSE19898 70542167 70543168 1001 3882
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 70554086 70555117 1031 0
Oct1 HelaGSE14283 70550453 70550492 39 0
PHF8 Hs68plusFBSGSE20725 70554008 70555094 1086 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