AutismKB 2.0

Annotation Detail for BTBD8


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Basic Information Top
Gene Symbol:BTBD8 ( - )
Gene Full Name: BTB (POZ) domain containing 8
Band: 1p22.1
Quick LinksEntrez ID:284697; OMIM: NA; Uniprot ID:BTBD8_HUMAN; ENSEMBL ID: ENSG00000189195; HGNC ID: 21019
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
94Phosphoserine(CK1)HMM predict
143Phosphoserine(ATM)HMM predict
156N-linkedHMM predict
184SulfotyrosineHMM predict
246Phosphotyrosine(INSR)HMM predict
246Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_183242
  • Location:chr1 92318480-92385980
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 92318320 92318461 141 90
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 92393421 92393465 44 7463
Oct1 HelaGSE14283 92393419 92393479 60 7469
Oct1 HelaGSE14283 92403879 92403933 54 17926
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 92319098 92319564 466 0
TFAP2C MCF7GSE21234 92318192 92319228 1036 0
p130 shRbQuiescentGSE19898 92318616 92319124 508 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