AutismKB 2.0

Annotation Detail for B3GALTL


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Basic Information Top
Gene Symbol:B3GALTL ( B3GLCT,B3GTL,B3Glc-T,Gal-T,beta3Glc-T )
Gene Full Name: beta 1,3-galactosyltransferase-like
Band: 13q12.3
Quick LinksEntrez ID:145173; OMIM: 610308; Uniprot ID:B3GLT_HUMAN; ENSEMBL ID: ENSG00000187676; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
336N-linked (GlcNAc...) (Potential).
498Prevents secretion from ER.
Location(AA) Modifications Resource
336N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
32Phosphothreonine(CK2)HMM predict
124N-linkedHMM predict
145Phosphothreonine(PKC)HMM predict
177N-linkedHMM predict
235Phosphothreonine(MAPK)HMM predict
260S-palmitoylHMM predict
301SulfotyrosineHMM predict
336N-linkedHMM predict
338Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_194318
  • Location:chr13 30672131-30803656
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 30807139 30807688 549 3757
TFAP2C MCF7GSE21234 30821148 30821844 696 17840
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 30671804 30672938 1134 0
CTCF G2GSE9613 30673526 30673676 150 0
CTCF G2GSE9613 30676563 30676795 232 0
CTCF G2GSE9613 30706457 30706729 272 0
CTCF G2GSE9613 30706982 30707365 383 0
Fos K562GSE19551 30676692 30677283 591 0
KLF4 hESGSE17917 30685737 30685896 159 0
Myc hESGSE17917 30671995 30672339 344 0
Nanog ESGSE20650 30774743 30774963 220 0
Nanog hESGSE18292 30698517 30698732 215 0
Nanog hESGSE18292 30708497 30708707 210 0
Oct1 HelaGSE14283 30680365 30680422 57 0
Oct1 HelaGSE14283 30686916 30686948 32 0
Oct1 HelaGSE14283 30692866 30692902 36 0
Oct1 HelaGSE14283 30696987 30697019 32 0
Oct1 HelaGSE14283 30782423 30782463 40 0
Oct4 hESGSE17917 30685732 30685886 154 0
TFAP2C MCF7GSE21234 30794218 30794559 341 0
hScc1 BcellGSE12603 30671910 30672761 851 0
hScc1 CdLSGSE12603 30671840 30672849 1009 0
hScc1 G2GSE9613 30671536 30672980 1444 0
p63 keratinocytesGSE17611 30782586 30783492 906 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