AutismKB 2.0

Annotation Detail for OTC


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:OTC ( MGC129967,MGC129968,MGC138856,OCTD )
Gene Full Name: ornithine carbamoyltransferase
Band: Xp11.4
Quick LinksEntrez ID:5009; OMIM: 300461; Uniprot ID:OTC_HUMAN; ENSEMBL ID: ENSG00000036473; HGNC ID: 8512
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
88N6-acetyllysine (By similarity).
231N6-acetyllysine (By similarity).
238N6-acetyllysine (By similarity).
Location(AA) Modifications Resource
88N6-acetyllysine (By similarity).Swiss-Prot 53.0
231N6-acetyllysine (By similarity).Swiss-Prot 53.0
238N6-acetyllysine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
47N-linkedHMM predict
91Phosphothreonine(PKC)HMM predict
96Phosphoserine(PKG)HMM predict
121N-linkedHMM predict
240N-linkedHMM predict
284Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000531
  • Location:chrX 38096301-38165552
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 38090477 38090512 35 5807
USF2 HepG2E 38087136 38087607 471 8930
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 38183960 38183995 35 18425
RNAII Tamoxifen-MCF7GSE14664 38166185 38166272 87 676
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38120142 38120438 296 0
ER E2-MCF7GSE14664 38141540 38141573 33 0
Oct1 H2O2-HelaGSE14283 38113959 38113985 26 0
Oct1 H2O2-HelaGSE14283 38141540 38141573 33 0
Oct1 H2O2-HelaGSE14283 38153965 38153991 26 0
Oct1 HelaGSE14283 38099820 38099864 44 0
Oct1 HelaGSE14283 38145087 38145120 33 0
Oct1 HelaGSE14283 38153713 38153749 36 0
hScc1 BcellGSE12603 38139589 38139838 249 0
hScc1 G2GSE9613 38149186 38149409 223 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