AutismKB 2.0

Annotation Detail for BTN3A1


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Basic Information Top
Gene Symbol:BTN3A1 ( BT3.1,BTF5,CD277,MGC141880 )
Gene Full Name: butyrophilin, subfamily 3, member A1
Band: 6p22.2
Quick LinksEntrez ID:11119; OMIM: 613593; Uniprot ID:BT3A1_HUMAN; ENSEMBL ID: ENSG00000026950; HGNC ID: 1138
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
115N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
115N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
115N-linkedHMM predict
134Phosphotyrosine(EGFR)HMM predict
134Phosphotyrosine(Syk)HMM predict
213Phosphoserine(PKG)HMM predict
392Phosphoserine(CDK)HMM predict
425Phosphothreonine(CDC2)HMM predict
443Phosphothreonine(PKC)HMM predict
474Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007048
  • Location:chr6 26510459-26523420
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 26509515 26509725 210 840
p130 shRbQuiescentGSE19898 26507683 26508053 370 2592
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 26510373 26510857 484 0
H3ac HepG2E 26510063 26510886 823 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