AutismKB 2.0

Annotation Detail for CYB5D2


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Basic Information Top
Gene Symbol:CYB5D2 ( MGC32124 )
Gene Full Name: cytochrome b5 domain containing 2
Band: 17p13.2
Quick LinksEntrez ID:124936; OMIM: NA; Uniprot ID:NEUFC_HUMAN; ENSEMBL ID: ENSG00000167740; HGNC ID: 28471
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_144611
  • Location:chr17 3993298-4007737
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 QuiescentGSE19898 3993131 3993285 154 91
p130 SenescentGSE19898 3992931 3993375 444 146
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARG MCF7GSE15244 4009759 4010604 845 2444
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 3993603 3994022 419 0
ETS1 JurkatGSE17954 3992490 3994468 1978 0
H3K4me2 HCT116GSE10453 3994372 3994794 422 0
H3K4me3 colorectalcancer 3993603 3993851 248 0
H3ac HepG2E 3993603 3994794 1191 0
Oct1 H2O2-HelaGSE14283 3996471 3996499 28 0
PHF8 293TGSE20725 3992529 3994542 2013 0
PHF8 HeLaGSE20725 3992555 3994376 1821 0
PHF8 Hs68plusFBSGSE20725 3992196 3994557 2361 0
p130 QuiescentGSE19898 3993576 3994241 665 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