AutismKB 2.0

Annotation Detail for COX5B


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Basic Information Top
Gene Symbol:COX5B ( COXVB )
Gene Full Name: cytochrome c oxidase subunit Vb
Band: 2q11.2
Quick LinksEntrez ID:1329; OMIM: 123866; Uniprot ID:COX5B_HUMAN; ENSEMBL ID: ENSG00000135940; HGNC ID: 2269
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
121N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
33O-linkedHMM predict
73Phosphothreonine(PKC)HMM predict
116CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001862
  • Location:chr2 97628952-97631087
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 97609212 97609557 345 19568
CTCF G2GSE9613 97610354 97611139 785 18206
ETS1 JurkatGSE17954 97628419 97629343 924 72
Oct1 H2O2-HelaGSE14283 97623203 97623230 27 5736
PHF8 293TGSE20725 97628233 97629562 1329 55
PHF8 HeLaGSE20725 97628307 97629527 1220 36
PHF8 Hs68plusFBSGSE20725 97628112 97629454 1342 170
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 97628881 97629287 406 0
GABP k562GSE8489 97629772 97630149 377 0
H3K4me3 colorectalcancer 97629772 97630172 400 0
H3ac HepG2E 97629772 97630412 640 0
TAF k562GSE8489 97629772 97630955 1183 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