AutismKB 2.0

Annotation Detail for BTBD17


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Basic Information Top
Gene Symbol:BTBD17 ( BTBD17A,LGALS3BPL )
Gene Full Name: BTB (POZ) domain containing 17
Band: 17q25.1
Quick LinksEntrez ID:388419; OMIM: NA; Uniprot ID:BTBDH_HUMAN; ENSEMBL ID: ENSG00000204347; HGNC ID: 33758
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
61N-linked (GlcNAc...) (Potential).
100N-linked (GlcNAc...) (Potential).
195N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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