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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for B4GALT4

check button Gene summary
Gene informationGene symbol

B4GALT4

Gene ID

8702

Gene namebeta-1,4-galactosyltransferase 4
SynonymsB4Gal-T4|beta4Gal-T4
Cytomap

3q13.32

Type of geneprotein-coding
Descriptionbeta-1,4-galactosyltransferase 4N-acetyllactosamine synthaseUDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4UDP-galactose:beta-N-
Modification date20200313
UniProtAcc

B2RAZ5,

C9J3R8,

C9J4S5,

C9J5S0,

C9J644,

C9JA31,

C9JE00,

C9JY35,

C9JY38,

E7ETS9,

O60513,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Gene structures and expression levels for B4GALT4

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

ENSG00000121578
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000471675.1B4GALT4-209:protein_coding:B4GALT43.473524e+01-9.541333e-011.908295e-101.090028e-08
CBUPENST00000479308.1B4GALT4-214:lncRNA:B4GALT47.088231e-018.729037e-015.823867e-032.232328e-02
CBUPENST00000460321.5B4GALT4-205:lncRNA:B4GALT41.025874e+001.377926e+001.103916e-023.769484e-02
TCUPENST00000470111.5B4GALT4-208:protein_coding:B4GALT44.685817e+001.375675e+002.292633e-103.956906e-08

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for B4GALT4

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_109632chr3119235145:119235227:119236153:119236251:119236853:119237070119236153:119236251
exon_skip_122982chr3119236853:119237070:119240316:119240530:119240850:119240907119240316:119240530
exon_skip_154955chr3119226809:119227041:119229847:119230244:119236853:119237070119229847:119230244
exon_skip_168221chr3119216240:119216344:119218650:119218772:119224058:119224245119218650:119218772
exon_skip_178987chr3119226989:119227041:119229847:119230244:119236853:119237070119229847:119230244
exon_skip_188809chr3119226989:119227041:119236853:119237070:119240850:119240878119236853:119237070
exon_skip_189218chr3119226989:119227041:119229847:119230244:119235145:119235227119229847:119230244
exon_skip_196504chr3119226809:119227041:119235145:119235227:119236853:119237070119235145:119235227
exon_skip_204241chr3119229847:119230244:119236853:119237070:119240765:119240878119236853:119237070
exon_skip_24574chr3119236853:119237070:119240361:119240530:119240850:119240878119240361:119240530
exon_skip_259770chr3119226989:119227041:119235145:119235227:119236853:119237070119235145:119235227
exon_skip_40896chr3119226809:119227041:119229847:119230244:119235145:119235227119229847:119230244
exon_skip_69480chr3119236853:119237070:119240361:119240530:119240850:119240907119240361:119240530
exon_skip_8320chr3119216240:119216344:119218712:119218772:119224058:119224245119218712:119218772
exon_skip_83884chr3119230176:119230244:119235145:119235227:119236853:119237070119235145:119235227

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for B4GALT4

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003592131192298471192302443UTR-3CDS
ENST000003937651192298471192302443UTR-3CDS
ENST000004832091192298471192302443UTR-3CDS
ENST000003592131192351451192352273UTR-3UTR
ENST00000359213119218650119218772In-frame
ENST00000393765119218650119218772In-frame
ENST00000483209119218650119218772In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003592131192351451192352273UTR-3UTR

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003937651192298471192302443UTR-3CDS
ENST000004832091192298471192302443UTR-3CDS
ENST000003592131192351451192352273UTR-3UTR
ENST00000359213119218650119218772In-frame
ENST00000393765119218650119218772In-frame
ENST00000483209119218650119218772In-frame

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Infer the effects of exon skipping event on protein functional features for B4GALT4

p-ENSG00000121578_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000359213240234411921865011921877212181339225265
ENST00000393765247634411921865011921877212921413225265
ENST00000483209251134411921865011921877213171438225265

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000359213240234411921865011921877212181339225265
ENST00000393765247634411921865011921877212921413225265
ENST00000483209251134411921865011921877213171438225265

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
O60513225265256256Binding siteNote=UDP-alpha-D-galactose;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60513225265256256Binding siteNote=UDP-alpha-D-galactose;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60513225265256256Binding siteNote=UDP-alpha-D-galactose;Ontology_term=ECO:0000250;evidence=ECO:0000250
O605132252651344ChainID=PRO_0000080542;Note=Beta-1%2C4-galactosyltransferase 4
O605132252651344ChainID=PRO_0000080542;Note=Beta-1%2C4-galactosyltransferase 4
O605132252651344ChainID=PRO_0000080542;Note=Beta-1%2C4-galactosyltransferase 4
O60513225265258261RegionNote=N-acetyl-D-glucosamine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60513225265258261RegionNote=N-acetyl-D-glucosamine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60513225265258261RegionNote=N-acetyl-D-glucosamine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6051322526539344Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O6051322526539344Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O6051322526539344Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
O60513225265256256Binding siteNote=UDP-alpha-D-galactose;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60513225265256256Binding siteNote=UDP-alpha-D-galactose;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60513225265256256Binding siteNote=UDP-alpha-D-galactose;Ontology_term=ECO:0000250;evidence=ECO:0000250
O605132252651344ChainID=PRO_0000080542;Note=Beta-1%2C4-galactosyltransferase 4
O605132252651344ChainID=PRO_0000080542;Note=Beta-1%2C4-galactosyltransferase 4
O605132252651344ChainID=PRO_0000080542;Note=Beta-1%2C4-galactosyltransferase 4
O60513225265258261RegionNote=N-acetyl-D-glucosamine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60513225265258261RegionNote=N-acetyl-D-glucosamine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60513225265258261RegionNote=N-acetyl-D-glucosamine binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6051322526539344Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O6051322526539344Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
O6051322526539344Topological domainNote=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255


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3'-UTR located exon skipping events that lost miRNA binding sites in B4GALT4

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda
MayoENST00000359213119235145119235227hsa-miR-1915-5pchr3:119235213-1192352208mer-1achr3:119235204-119235225147.00-13.50
MayoENST00000359213119235145119235227hsa-miR-141-5pchr3:119235218-1192352258mer-1achr3:119235204-119235225147.00-13.50
MayoENST00000359213119235145119235227hsa-miR-548x-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MayoENST00000359213119235145119235227hsa-miR-548ae-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MayoENST00000359213119235145119235227hsa-miR-548j-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MayoENST00000359213119235145119235227hsa-miR-548aq-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MayoENST00000359213119235145119235227hsa-miR-548ah-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MayoENST00000359213119235145119235227hsa-miR-3688-3pchr3:119235189-1192351968mer-1achr3:119235175-119235196156.00-13.87
MayoENST00000359213119235145119235227hsa-miR-548aj-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MayoENST00000359213119235145119235227hsa-miR-548am-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MayoENST00000359213119235145119235227hsa-miR-502-5pchr3:119235214-1192352218mer-1achr3:119235204-119235225147.00-13.50
MSBBENST00000359213119235145119235227hsa-miR-1915-5pchr3:119235213-1192352208mer-1achr3:119235204-119235225147.00-13.50
MSBBENST00000359213119235145119235227hsa-miR-141-5pchr3:119235218-1192352258mer-1achr3:119235204-119235225147.00-13.50
MSBBENST00000359213119235145119235227hsa-miR-548x-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MSBBENST00000359213119235145119235227hsa-miR-548ae-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MSBBENST00000359213119235145119235227hsa-miR-548j-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MSBBENST00000359213119235145119235227hsa-miR-548aq-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MSBBENST00000359213119235145119235227hsa-miR-548ah-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MSBBENST00000359213119235145119235227hsa-miR-3688-3pchr3:119235189-1192351968mer-1achr3:119235175-119235196156.00-13.87
MSBBENST00000359213119235145119235227hsa-miR-548aj-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MSBBENST00000359213119235145119235227hsa-miR-548am-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
MSBBENST00000359213119235145119235227hsa-miR-502-5pchr3:119235214-1192352218mer-1achr3:119235204-119235225147.00-13.50
ROSMAPENST00000359213119235145119235227hsa-miR-1915-5pchr3:119235213-1192352208mer-1achr3:119235204-119235225147.00-13.50
ROSMAPENST00000359213119235145119235227hsa-miR-141-5pchr3:119235218-1192352258mer-1achr3:119235204-119235225147.00-13.50
ROSMAPENST00000359213119235145119235227hsa-miR-548x-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
ROSMAPENST00000359213119235145119235227hsa-miR-548ae-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
ROSMAPENST00000359213119235145119235227hsa-miR-548j-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
ROSMAPENST00000359213119235145119235227hsa-miR-548aq-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
ROSMAPENST00000359213119235145119235227hsa-miR-548ah-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
ROSMAPENST00000359213119235145119235227hsa-miR-3688-3pchr3:119235189-1192351968mer-1achr3:119235175-119235196156.00-13.87
ROSMAPENST00000359213119235145119235227hsa-miR-548aj-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
ROSMAPENST00000359213119235145119235227hsa-miR-548am-3pchr3:119235199-1192352068mer-1achr3:119235199-119235220140.00-12.87
ROSMAPENST00000359213119235145119235227hsa-miR-502-5pchr3:119235214-1192352218mer-1achr3:119235204-119235225147.00-13.50

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SNVs in the skipped exons for B4GALT4

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for B4GALT4

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for B4GALT4

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
HCCexon_skip_83884rs12630690chr3:1192116178.411272e-057.897923e-03
HCCexon_skip_83884rs4528932chr3:1192225948.530593e-057.969867e-03
HCCexon_skip_83884rs4547690chr3:1192228958.530593e-057.969867e-03
HCCexon_skip_83884rs4234657chr3:1192294418.530593e-057.969867e-03
HCCexon_skip_83884rs7622158chr3:1191995972.138211e-041.709828e-02
HCCexon_skip_83884rs6438510chr3:1192393562.760372e-042.110226e-02
HCCexon_skip_83884rs3806697chr3:1191857565.759403e-043.783694e-02

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Correlation with RNA binding proteins (RBPs) for B4GALT4

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBFUBP3exon_skip_838844.247280e-011.876852e-07
CBNUP42exon_skip_838844.639415e-018.810439e-09
TCKHDRBS2exon_skip_838844.507846e-011.430479e-08
TCNOVA1exon_skip_838844.106769e-013.178333e-07

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RelatedDrugs for B4GALT4

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for B4GALT4

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource