AutismKB 2.0

Annotation Detail for B4GALNT1


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Basic Information Top
Gene Symbol:B4GALNT1 ( GALGT,GALNACT )
Gene Full Name: beta-1,4-N-acetyl-galactosaminyl transferase 1
Band: 12q13.3
Quick LinksEntrez ID:2583; OMIM: 601873; Uniprot ID:B4GN1_HUMAN; ENSEMBL ID: ENSG00000135454; HGNC ID: 4117
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
79N-linked (GlcNAc...) (Potential).
179N-linked (GlcNAc...) (Potential).
274N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
79N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
179N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
274N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
45Phosphoserine(CDC2)HMM predict
79N-linkedHMM predict
115Phosphoserine(PKG)HMM predict
129Phosphoserine(ATM)HMM predict
129PhosphoserineHMM predict
131Phosphoserine(CAMK2)HMM predict
131Phosphoserine(IKK)HMM predict
179N-linkedHMM predict
210Phosphoserine(MAPK)HMM predict
237Phosphothreonine(PKC)HMM predict
250Phosphothreonine(PKC)HMM predict
324Phosphotyrosine(Jak)HMM predict
377Phosphothreonine(MAPK)HMM predict
500Phosphothreonine(PKC)HMM predict
513Phosphoserine(ATM)HMM predict
520LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001478
  • Location:chr12 56305817-56313251
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 56313092 56313445 353 17
CTCF CD4SISSRdata 56313092 56313445 353 17
H3K27me3 colorectalcancer 56313493 56313833 340 412
H3K27me3 colorectalcancer 56319509 56319953 444 6480
Oct1 H2O2-HelaGSE14283 56330837 56330870 33 17602
Oct1 HelaGSE14283 56330834 56330870 36 17601
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 56307594 56307751 157 0
CTCF CD4SISSRdata 56307594 56307751 157 0
CTCF G2GSE9613 56307598 56308221 623 0
CTCF G2GSE9613 56310972 56313595 2623 0
H3K27me3 colorectalcancer 56310437 56311043 606 0
H3K27me3 colorectalcancer 56311397 56311846 449 0
NRSF pAbJurkat 56307847 56308221 374 0
hScc1 BcellGSE12603 56307598 56308221 623 0
hScc1 BcellGSE12603 56310079 56310350 271 0
hScc1 BcellGSE12603 56313027 56313380 353 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
6174 mRNA SLC26A10 chr12 56301312 56306200 153 mRNA GALGT chr12 56305944 56313251Sense/Antisense (SA) pairs

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


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