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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for B3GNT3 |
 Gene summary |
| Gene information | Gene symbol | B3GNT3 | Gene ID | 10331 |
| Gene name | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | |
| Synonyms | B3GAL-T8|B3GN-T3|B3GNT-3|HP10328|TMEM3|beta3Gn-T3 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8beta-1,3-GalTase 8beta-1,3-Gn-T3beta-1,3-N-acetylglucosaminyltr | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y2A9 | |
| Context | PubMed: B3GNT3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| B3GNT3 | GO:0030311 | poly-N-acetyllactosamine biosynthetic process | 11042166 |
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Exon skipping events across known transcript of Ensembl for B3GNT3 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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. |
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Gene isoform structures and expression levels for B3GNT3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for B3GNT3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303643 | 19 | 17905965:17906015:17918547:17919183:17922379:17922562 | 17918547:17919183 | ENSG00000179913.6 | ENST00000595387.1 |
| exon_skip_303645 | 19 | 17905965:17906015:17918566:17919183:17922379:17922562 | 17918566:17919183 | ENSG00000179913.6 | ENST00000318683.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for B3GNT3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303645 | 19 | 17905965:17906015:17918566:17919183:17922379:17922562 | 17918566:17919183 | ENSG00000179913.6 | ENST00000318683.6 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for B3GNT3 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000595387 | 17918547 | 17919183 | 5CDS-5UTR |
| ENST00000318683 | 17918566 | 17919183 | 5CDS-5UTR |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000318683 | 17918566 | 17919183 | 5CDS-5UTR |
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Infer the effects of exon skipping event on protein functional features for B3GNT3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for B3GNT3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_303645 exon_skip_303643 | 17918548 | 17919183 | 17918641 | 17918641 | Frame_Shift_Del | C | - | p.P9fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_303645 exon_skip_303643 | 17918567 | 17919183 | 17918641 | 17918641 | Frame_Shift_Del | C | - | p.P9fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_303645 exon_skip_303643 | 17918548 | 17919183 | 17918745 | 17918745 | Frame_Shift_Del | C | - | p.I43fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_303645 exon_skip_303643 | 17918567 | 17919183 | 17918745 | 17918745 | Frame_Shift_Del | C | - | p.I43fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_303645 exon_skip_303643 | 17918548 | 17919183 | 17918745 | 17918745 | Frame_Shift_Del | C | - | p.I43fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_303645 exon_skip_303643 | 17918567 | 17919183 | 17918745 | 17918745 | Frame_Shift_Del | C | - | p.I43fs |
| HNSC | TCGA-CV-7446-01 | exon_skip_303645 exon_skip_303643 | 17918548 | 17919183 | 17918790 | 17918802 | Frame_Shift_Del | GGCCCCGTGCCAT | - | p.PAPCH58fs |
| HNSC | TCGA-CV-7446-01 | exon_skip_303645 exon_skip_303643 | 17918567 | 17919183 | 17918790 | 17918802 | Frame_Shift_Del | GGCCCCGTGCCAT | - | p.PAPCH58fs |
| HNSC | TCGA-CQ-6227-01 | exon_skip_303645 exon_skip_303643 | 17918548 | 17919183 | 17918902 | 17918902 | Nonsense_Mutation | C | T | p.Q96* |
| HNSC | TCGA-CQ-6227-01 | exon_skip_303645 exon_skip_303643 | 17918567 | 17919183 | 17918902 | 17918902 | Nonsense_Mutation | C | T | p.Q96* |
| BLCA | TCGA-2F-A9KO-01 | exon_skip_303645 exon_skip_303643 | 17918548 | 17919183 | 17919112 | 17919112 | Nonsense_Mutation | G | T | p.E166* |
| BLCA | TCGA-2F-A9KO-01 | exon_skip_303645 exon_skip_303643 | 17918567 | 17919183 | 17919112 | 17919112 | Nonsense_Mutation | G | T | p.E166* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| MM370_SKIN | 17918567 | 17919183 | 17918772 | 17918773 | Frame_Shift_Ins | - | C | p.P53fs |
| MM370_SKIN | 17918548 | 17919183 | 17918772 | 17918773 | Frame_Shift_Ins | - | C | p.P53fs |
| NCIH1092_LUNG | 17918567 | 17919183 | 17918772 | 17918773 | Frame_Shift_Ins | - | C | p.P53fs |
| NCIH1092_LUNG | 17918548 | 17919183 | 17918772 | 17918773 | Frame_Shift_Ins | - | C | p.P53fs |
| RH41_SOFT_TISSUE | 17918567 | 17919183 | 17918772 | 17918773 | Frame_Shift_Ins | - | C | p.P53fs |
| RH41_SOFT_TISSUE | 17918548 | 17919183 | 17918772 | 17918773 | Frame_Shift_Ins | - | C | p.P53fs |
| MM386_SKIN | 17918567 | 17919183 | 17918626 | 17918626 | Missense_Mutation | C | T | p.L4F |
| MM386_SKIN | 17918548 | 17919183 | 17918626 | 17918626 | Missense_Mutation | C | T | p.L4F |
| NCIH1435_LUNG | 17918567 | 17919183 | 17918629 | 17918629 | Missense_Mutation | C | G | p.R5G |
| NCIH1435_LUNG | 17918548 | 17919183 | 17918629 | 17918629 | Missense_Mutation | C | G | p.R5G |
| SNU1040_LARGE_INTESTINE | 17918567 | 17919183 | 17918648 | 17918648 | Missense_Mutation | C | T | p.A11V |
| SNU1040_LARGE_INTESTINE | 17918548 | 17919183 | 17918648 | 17918648 | Missense_Mutation | C | T | p.A11V |
| MFE319_ENDOMETRIUM | 17918567 | 17919183 | 17918656 | 17918656 | Missense_Mutation | A | G | p.I14V |
| MFE319_ENDOMETRIUM | 17918548 | 17919183 | 17918656 | 17918656 | Missense_Mutation | A | G | p.I14V |
| BT20_BREAST | 17918567 | 17919183 | 17918668 | 17918668 | Missense_Mutation | G | C | p.G18R |
| BT20_BREAST | 17918548 | 17919183 | 17918668 | 17918668 | Missense_Mutation | G | C | p.G18R |
| SNU407_LARGE_INTESTINE | 17918567 | 17919183 | 17918671 | 17918671 | Missense_Mutation | G | A | p.A19T |
| SNU407_LARGE_INTESTINE | 17918548 | 17919183 | 17918671 | 17918671 | Missense_Mutation | G | A | p.A19T |
| SNUC5_LARGE_INTESTINE | 17918567 | 17919183 | 17918684 | 17918684 | Missense_Mutation | T | G | p.L23R |
| SNUC5_LARGE_INTESTINE | 17918548 | 17919183 | 17918684 | 17918684 | Missense_Mutation | T | G | p.L23R |
| SNUC4_LARGE_INTESTINE | 17918567 | 17919183 | 17918698 | 17918698 | Missense_Mutation | C | G | p.L28V |
| SNUC4_LARGE_INTESTINE | 17918548 | 17919183 | 17918698 | 17918698 | Missense_Mutation | C | G | p.L28V |
| HEC59_ENDOMETRIUM | 17918567 | 17919183 | 17918741 | 17918741 | Missense_Mutation | C | T | p.A42V |
| HEC59_ENDOMETRIUM | 17918548 | 17919183 | 17918741 | 17918741 | Missense_Mutation | C | T | p.A42V |
| SARC9371_BONE | 17918567 | 17919183 | 17918783 | 17918783 | Missense_Mutation | C | T | p.P56L |
| SARC9371_BONE | 17918548 | 17919183 | 17918783 | 17918783 | Missense_Mutation | C | T | p.P56L |
| IGR1_SKIN | 17918567 | 17919183 | 17918894 | 17918894 | Missense_Mutation | C | T | p.P93L |
| IGR1_SKIN | 17918548 | 17919183 | 17918894 | 17918894 | Missense_Mutation | C | T | p.P93L |
| KYSE150_OESOPHAGUS | 17918567 | 17919183 | 17918924 | 17918924 | Missense_Mutation | G | A | p.C103Y |
| KYSE150_OESOPHAGUS | 17918548 | 17919183 | 17918924 | 17918924 | Missense_Mutation | G | A | p.C103Y |
| OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17918567 | 17919183 | 17918933 | 17918933 | Missense_Mutation | C | G | p.P106R |
| OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17918548 | 17919183 | 17918933 | 17918933 | Missense_Mutation | C | G | p.P106R |
| SNU1040_LARGE_INTESTINE | 17918567 | 17919183 | 17918980 | 17918980 | Missense_Mutation | C | T | p.R122C |
| SNU1040_LARGE_INTESTINE | 17918548 | 17919183 | 17918980 | 17918980 | Missense_Mutation | C | T | p.R122C |
| HS940T_FIBROBLAST | 17918567 | 17919183 | 17919010 | 17919010 | Missense_Mutation | C | T | p.R132C |
| HS940T_FIBROBLAST | 17918548 | 17919183 | 17919010 | 17919010 | Missense_Mutation | C | T | p.R132C |
| RL952_ENDOMETRIUM | 17918567 | 17919183 | 17919010 | 17919010 | Missense_Mutation | C | T | p.R132C |
| RL952_ENDOMETRIUM | 17918548 | 17919183 | 17919010 | 17919010 | Missense_Mutation | C | T | p.R132C |
| TE4_OESOPHAGUS | 17918567 | 17919183 | 17919011 | 17919011 | Missense_Mutation | G | T | p.R132L |
| TE4_OESOPHAGUS | 17918548 | 17919183 | 17919011 | 17919011 | Missense_Mutation | G | T | p.R132L |
| RL952_ENDOMETRIUM | 17918567 | 17919183 | 17919016 | 17919016 | Missense_Mutation | C | T | p.R134C |
| RL952_ENDOMETRIUM | 17918548 | 17919183 | 17919016 | 17919016 | Missense_Mutation | C | T | p.R134C |
| SNU349_KIDNEY | 17918567 | 17919183 | 17919017 | 17919017 | Missense_Mutation | G | A | p.R134H |
| SNU349_KIDNEY | 17918548 | 17919183 | 17919017 | 17919017 | Missense_Mutation | G | A | p.R134H |
| SNU1_STOMACH | 17918567 | 17919183 | 17919040 | 17919040 | Missense_Mutation | C | T | p.R142C |
| SNU1_STOMACH | 17918548 | 17919183 | 17919040 | 17919040 | Missense_Mutation | C | T | p.R142C |
| LOVO_LARGE_INTESTINE | 17918567 | 17919183 | 17919074 | 17919074 | Missense_Mutation | C | T | p.P153L |
| LOVO_LARGE_INTESTINE | 17918548 | 17919183 | 17919074 | 17919074 | Missense_Mutation | C | T | p.P153L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for B3GNT3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for B3GNT3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for B3GNT3 |
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RelatedDrugs for B3GNT3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for B3GNT3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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