AutismKB 2.0

Annotation Detail for B3GNT6


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Basic Information Top
Gene Symbol:B3GNT6 ( B3Gn-T6,IMAGE:4907098,MGC119334,MGC119336,MGC119337 )
Gene Full Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)
Band: 11q13.5
Quick LinksEntrez ID:192134; OMIM: NA; Uniprot ID:B3GN6_HUMAN; ENSEMBL ID: ENSG00000198488; HGNC ID: 24141
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
73N-linked (GlcNAc...) (Potential).
77N-linked (GlcNAc...) (Potential).
196N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
73N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
77N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
196N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
36Phosphoserine(CDC2)HMM predict
36Phosphoserine(MAPK)HMM predict
47Phosphothreonine(CDC2)HMM predict
62O-linkedHMM predict
77N-linkedHMM predict
196N-linkedHMM predict
260Phosphoserine(PKA)HMM predict
311Phosphotyrosine(INSR)HMM predict
343Phosphoserine(IKK)HMM predict
372Phosphoserine(IKK)HMM predict
372Phosphoserine(MAPK)HMM predict
375LeucineHMM predict
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