AutismKB 2.0

Annotation Detail for B3GNT3


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Basic Information Top
Gene Symbol:B3GNT3 ( B3GAL-T8,B3GN-T3,B3GNT-3,HP10328,TMEM3,beta3Gn-T3 )
Gene Full Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3
Band: 19p13.11
Quick LinksEntrez ID:10331; OMIM: 605863; Uniprot ID:B3GN3_HUMAN; ENSEMBL ID: ENSG00000179913; HGNC ID: 13528
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
64N-linked (GlcNAc...) (Potential).
184N-linked (GlcNAc...) (Potential).
202N-linked (GlcNAc...) (Potential).
276Phosphoserine.
362N-linked (GlcNAc...) (Potential).
367N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
64N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
184N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
202N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
362N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
367N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
10N-linkedHMM predict
51O-linkedHMM predict
116Phosphoserine(CDC2)HMM predict
184N-linkedHMM predict
337Phosphotyrosine(Syk)HMM predict
362N-linkedHMM predict
366GlycineHMM predict
367N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014256
  • Location:chr19 17766918-17785384
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 17766304 17766862 558 336
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 17774297 17774472 175 0
CTCF G2GSE9613 17775128 17775320 192 0
ETS1 JurkatGSE17954 17774833 17775709 876 0
TFAP2C MCF7GSE21234 17768275 17769706 1431 0
hScc1 BcellGSE12603 17779595 17779869 274 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