AutismKB 2.0

Annotation Detail for BBOX1


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Basic Information Top
Gene Symbol:BBOX1 ( BBH,BBOX,G-BBH,gamma-BBH )
Gene Full Name: butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Band: 11p14.2
Quick LinksEntrez ID:8424; OMIM: 603312; Uniprot ID:BODG_HUMAN; ENSEMBL ID: ENSG00000129151; HGNC ID: 964
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_003986
  • Location:chr11 27019084-27105929
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 27018380 27019184 804 303
p63 keratinocytesGSE17611 27018064 27019274 1210 416
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Stat6 IL-4-hr4GSE17850 27118933 27119405 472 13240
hScc1 BcellGSE12603 27118882 27119197 315 13110
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 27075601 27076291 690 0
Oct1 H2O2-HelaGSE14283 27088441 27088485 44 0
Oct1 HelaGSE14283 27088442 27088483 41 0
p63 keratinocytesGSE17611 27085538 27086356 818 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
4242 mRNA BBOX1 chr11 27019573 27105930 2108 mRNA chr11 27073863 27075971 Non-exonic Bidirectional (NOB) pairs

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