AutismKB 2.0

Annotation Detail for CYBA


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Basic Information Top
Gene Symbol:CYBA ( p22-PHOX )
Gene Full Name: cytochrome b-245, alpha polypeptide
Band: 16q24.2
Quick LinksEntrez ID:1535; OMIM: 608508; Uniprot ID:CY24A_HUMAN; ENSEMBL ID: ENSG00000051523; HGNC ID: 2577
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
147Phosphothreonine (By similarity).
168Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
153O-linkedHMM predict
153Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000101
  • Location:chr16 87237198-87244957
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 87244783 87245666 883 267
NFkBII GM12878GSE19485 87243964 87246119 2155 84
NFkBII GM18526GSE19485 87244031 87246112 2081 114
VDR GM10861-stimGSE22484 87243821 87246482 2661 194
hScc1 BcellGSE12603 87244783 87245404 621 136
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 87235903 87236701 798 897
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 87237193 87238076 883 0
PHF8 HeLaGSE20725 87243942 87245434 1492 0
TFAP2C MCF7GSE21234 87243757 87244700 943 0
hScc1 BcellGSE12603 87237010 87237489 479 0
hScc1 BcellGSE12603 87240203 87240699 496 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