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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 UNC13B |
 Gene summary |
| Gene information | Gene symbol | UNC13B | Gene ID | 10497 |
| Gene name | unc-13 homolog B | |
| Synonyms | MUNC13|UNC13|Unc13h2 | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | protein unc-13 homolog Bhomolog of rat Munc13 (diacylglycerol-binding)munc13-2unc-13-like | |
| Modification date | 20180523 | |
| UniProtAcc | O14795 | |
| Context | PubMed: UNC13B [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 |
| UNC13B | GO:0043065 | positive regulation of apoptotic process | 10233166 |
| UNC13B | GO:0050714 | positive regulation of protein secretion | 19641095 |
| UNC13B | GO:0071333 | cellular response to glucose stimulus | 19641095 |
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Exon skipping events across known transcript of Ensembl for UNC13B 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 UNC13B |
| 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 UNC13B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495632 | 9 | 35162100:35162302:35228011:35228041:35231116:35231216 | 35228011:35228041 | ENSG00000198722.8 | ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495638 | 9 | 35228011:35228041:35231116:35231216:35236465:35236583 | 35231116:35231216 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4,ENST00000485086.1 |
| exon_skip_495639 | 9 | 35231116:35231216:35236465:35236583:35237699:35237823 | 35236465:35236583 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4,ENST00000485086.1 |
| exon_skip_495641 | 9 | 35237699:35237823:35243287:35243361:35258989:35259047 | 35243287:35243361 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495642 | 9 | 35243287:35243361:35258989:35259047:35295692:35295927 | 35258989:35259047 | ENSG00000198722.8 | ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495644 | 9 | 35258989:35259047:35291065:35291101:35295692:35295927 | 35291065:35291101 | ENSG00000198722.8 | ENST00000396787.1 |
| exon_skip_495646 | 9 | 35258989:35259047:35295692:35295927:35310463:35310778 | 35295692:35295927 | ENSG00000198722.8 | ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495650 | 9 | 35295692:35295927:35310463:35310778:35313895:35313986 | 35310463:35310778 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495652 | 9 | 35310463:35310778:35313895:35313986:35366943:35366990 | 35313895:35313986 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495656 | 9 | 35366943:35366990:35370314:35370393:35375123:35375198 | 35370314:35370393 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495657 | 9 | 35370314:35370393:35375123:35375198:35376024:35376244 | 35375123:35375198 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495658 | 9 | 35380466:35380636:35381096:35381212:35381552:35381716 | 35381096:35381212 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495660 | 9 | 35384242:35384311:35385720:35385810:35386161:35386290 | 35385720:35385810 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495662 | 9 | 35396837:35396934:35397163:35397307:35397631:35397709 | 35397163:35397307 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495663 | 9 | 35397631:35397709:35398207:35398285:35398550:35398639 | 35398207:35398285 | ENSG00000198722.8 | ENST00000481299.1,ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495664 | 9 | 35399157:35399281:35399388:35399445:35399645:35399726 | 35399388:35399445 | ENSG00000198722.8 | ENST00000378495.3,ENST00000396787.1,ENST00000378496.4 |
| exon_skip_495666 | 9 | 35400292:35400440:35401947:35402004:35403163:35403256 | 35401947:35402004 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378496.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UNC13B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495632 | 9 | 35162100:35162302:35228011:35228041:35231116:35231216 | 35228011:35228041 | ENSG00000198722.8 | ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495638 | 9 | 35228011:35228041:35231116:35231216:35236465:35236583 | 35231116:35231216 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4,ENST00000485086.1 |
| exon_skip_495639 | 9 | 35231116:35231216:35236465:35236583:35237699:35237823 | 35236465:35236583 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4,ENST00000485086.1 |
| exon_skip_495641 | 9 | 35237699:35237823:35243287:35243361:35258989:35259047 | 35243287:35243361 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495642 | 9 | 35243287:35243361:35258989:35259047:35295692:35295927 | 35258989:35259047 | ENSG00000198722.8 | ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495644 | 9 | 35258989:35259047:35291065:35291101:35295692:35295927 | 35291065:35291101 | ENSG00000198722.8 | ENST00000396787.1 |
| exon_skip_495646 | 9 | 35258989:35259047:35295692:35295927:35310463:35310778 | 35295692:35295927 | ENSG00000198722.8 | ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495652 | 9 | 35310463:35310778:35313895:35313986:35366943:35366990 | 35313895:35313986 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495656 | 9 | 35366943:35366990:35370314:35370393:35375123:35375198 | 35370314:35370393 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495657 | 9 | 35370314:35370393:35375123:35375198:35376024:35376244 | 35375123:35375198 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495658 | 9 | 35380466:35380636:35381096:35381212:35381552:35381716 | 35381096:35381212 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495660 | 9 | 35384242:35384311:35385720:35385810:35386161:35386290 | 35385720:35385810 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495662 | 9 | 35396837:35396934:35397163:35397307:35397631:35397709 | 35397163:35397307 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495663 | 9 | 35397631:35397709:35398207:35398285:35398550:35398639 | 35398207:35398285 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4,ENST00000481299.1 |
| exon_skip_495664 | 9 | 35399157:35399281:35399388:35399445:35399645:35399726 | 35399388:35399445 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378495.3,ENST00000378496.4 |
| exon_skip_495666 | 9 | 35400292:35400440:35401947:35402004:35403163:35403256 | 35401947:35402004 | ENSG00000198722.8 | ENST00000396787.1,ENST00000378496.4 |
| 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 UNC13B |
| 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 |
| ENST00000378495 | 35231116 | 35231216 | Frame-shift |
| ENST00000378495 | 35236465 | 35236583 | Frame-shift |
| ENST00000378495 | 35243287 | 35243361 | Frame-shift |
| ENST00000378495 | 35258989 | 35259047 | Frame-shift |
| ENST00000378495 | 35295692 | 35295927 | Frame-shift |
| ENST00000378495 | 35313895 | 35313986 | Frame-shift |
| ENST00000378495 | 35370314 | 35370393 | Frame-shift |
| ENST00000378495 | 35381096 | 35381212 | Frame-shift |
| ENST00000378495 | 35228011 | 35228041 | In-frame |
| ENST00000378495 | 35310463 | 35310778 | In-frame |
| ENST00000378495 | 35375123 | 35375198 | In-frame |
| ENST00000378495 | 35385720 | 35385810 | In-frame |
| ENST00000378495 | 35397163 | 35397307 | In-frame |
| ENST00000378495 | 35398207 | 35398285 | In-frame |
| ENST00000378495 | 35399388 | 35399445 | In-frame |
| 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 |
| ENST00000378495 | 35231116 | 35231216 | Frame-shift |
| ENST00000378495 | 35236465 | 35236583 | Frame-shift |
| ENST00000378495 | 35243287 | 35243361 | Frame-shift |
| ENST00000378495 | 35258989 | 35259047 | Frame-shift |
| ENST00000378495 | 35295692 | 35295927 | Frame-shift |
| ENST00000378495 | 35313895 | 35313986 | Frame-shift |
| ENST00000378495 | 35370314 | 35370393 | Frame-shift |
| ENST00000378495 | 35381096 | 35381212 | Frame-shift |
| ENST00000378495 | 35228011 | 35228041 | In-frame |
| ENST00000378495 | 35375123 | 35375198 | In-frame |
| ENST00000378495 | 35385720 | 35385810 | In-frame |
| ENST00000378495 | 35397163 | 35397307 | In-frame |
| ENST00000378495 | 35398207 | 35398285 | In-frame |
| ENST00000378495 | 35399388 | 35399445 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UNC13B |
| 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 |
| ENST00000378495 | 6320 | 1591 | 35228011 | 35228041 | 245 | 274 | 7 | 17 |
| ENST00000378495 | 6320 | 1591 | 35310463 | 35310778 | 984 | 1298 | 254 | 358 |
| ENST00000378495 | 6320 | 1591 | 35375123 | 35375198 | 1516 | 1590 | 431 | 456 |
| ENST00000378495 | 6320 | 1591 | 35385720 | 35385810 | 2851 | 2940 | 876 | 906 |
| ENST00000378495 | 6320 | 1591 | 35397163 | 35397307 | 3508 | 3651 | 1095 | 1143 |
| ENST00000378495 | 6320 | 1591 | 35398207 | 35398285 | 3730 | 3807 | 1169 | 1195 |
| ENST00000378495 | 6320 | 1591 | 35399388 | 35399445 | 4174 | 4230 | 1317 | 1336 |
| 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 |
| ENST00000378495 | 6320 | 1591 | 35228011 | 35228041 | 245 | 274 | 7 | 17 |
| ENST00000378495 | 6320 | 1591 | 35375123 | 35375198 | 1516 | 1590 | 431 | 456 |
| ENST00000378495 | 6320 | 1591 | 35385720 | 35385810 | 2851 | 2940 | 876 | 906 |
| ENST00000378495 | 6320 | 1591 | 35397163 | 35397307 | 3508 | 3651 | 1095 | 1143 |
| ENST00000378495 | 6320 | 1591 | 35398207 | 35398285 | 3730 | 3807 | 1169 | 1195 |
| ENST00000378495 | 6320 | 1591 | 35399388 | 35399445 | 4174 | 4230 | 1317 | 1336 |
| 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 |
| O14795 | 7 | 17 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 7 | 17 | 1 | 79 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| O14795 | 7 | 17 | 16 | 16 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O14795 | 254 | 358 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 254 | 358 | 295 | 295 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| O14795 | 431 | 456 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 876 | 906 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 1095 | 1143 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 1095 | 1143 | 1013 | 1156 | Domain | Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 |
| O14795 | 1169 | 1195 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 1169 | 1195 | 1172 | 1202 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O14795 | 1317 | 1336 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 1317 | 1336 | 1263 | 1405 | Domain | Note=MHD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00588 |
| 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 |
| O14795 | 7 | 17 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 7 | 17 | 1 | 79 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| O14795 | 7 | 17 | 16 | 16 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O14795 | 431 | 456 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 876 | 906 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 1095 | 1143 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 1095 | 1143 | 1013 | 1156 | Domain | Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 |
| O14795 | 1169 | 1195 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 1169 | 1195 | 1172 | 1202 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O14795 | 1317 | 1336 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 1317 | 1336 | 1263 | 1405 | Domain | Note=MHD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00588 |
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SNVs in the skipped exons for UNC13B |
| - 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. |
UNC13B_HNSC_exon_skip_495660_psi_boxplot.png |
| - 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_495639 | 35236466 | 35236583 | 35236538 | 35236538 | Frame_Shift_Del | G | - | p.V75fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_495644 | 35291066 | 35291101 | 35291075 | 35291075 | Frame_Shift_Del | C | - | p.T179fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_495646 | 35295693 | 35295927 | 35295864 | 35295864 | Frame_Shift_Del | G | - | p.R233fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495650 | 35310464 | 35310778 | 35310645 | 35310645 | Frame_Shift_Del | A | - | p.K315fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_495652 | 35313896 | 35313986 | 35313950 | 35313950 | Frame_Shift_Del | C | - | p.I377fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_495662 | 35397164 | 35397307 | 35397299 | 35397299 | Frame_Shift_Del | T | - | p.F1141fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_495663 | 35398208 | 35398285 | 35398282 | 35398282 | Frame_Shift_Del | G | - | p.K1194fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_495664 | 35399389 | 35399445 | 35399437 | 35399437 | Frame_Shift_Del | A | - | p.K1334fs |
| KIRC | TCGA-BP-4161-01 | exon_skip_495650 | 35310464 | 35310778 | 35310690 | 35310690 | Nonsense_Mutation | G | T | p.E330X |
| SKCM | TCGA-EE-A29M-06 | exon_skip_495652 | 35313896 | 35313986 | 35313969 | 35313969 | Nonsense_Mutation | C | T | p.R384* |
| SKCM | TCGA-EE-A29M-06 | exon_skip_495652 | 35313896 | 35313986 | 35313969 | 35313969 | Nonsense_Mutation | C | T | p.R384X |
| BLCA | TCGA-LT-A5Z6-01 | exon_skip_495658 | 35381097 | 35381212 | 35381168 | 35381168 | Nonsense_Mutation | G | T | p.E734* |
| UCS | TCGA-N7-A59B-01 | exon_skip_495658 | 35381097 | 35381212 | 35381192 | 35381192 | Nonsense_Mutation | C | T | p.Q742* |
| UCS | TCGA-N7-A59B-01 | exon_skip_495658 | 35381097 | 35381212 | 35381192 | 35381192 | Nonsense_Mutation | C | T | p.Q742X |
| KIRP | TCGA-B9-4115-01 | exon_skip_495641 | 35243288 | 35243361 | 35243362 | 35243362 | Splice_Site | G | C | . |
| STAD | TCGA-BR-4368-01 | exon_skip_495652 | 35313896 | 35313986 | 35313894 | 35313894 | Splice_Site | A | G | p.S359_splice |
| HNSC | TCGA-CV-7095-01 | exon_skip_495660 | 35385721 | 35385810 | 35385812 | 35385812 | Splice_Site | T | C | p.K906_splice |
| LIHC | TCGA-XR-A8TF-01 | exon_skip_495664 | 35399389 | 35399445 | 35399446 | 35399446 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CV-7095-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_495660 | |
| Skipped exon start: 35385721 | |
| Skipped exon end: 35385810 | |
| Mutation start: 35385812 | |
| Mutation end: 35385812 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: p.K906_splice | |
exon_skip_495660_HNSC_TCGA-CV-7095-01.png | |
| - 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 |
| HEC108_ENDOMETRIUM | 35310464 | 35310778 | 35310729 | 35310729 | Frame_Shift_Del | C | - | p.P344fs |
| SISO_CERVIX | 35231117 | 35231216 | 35231128 | 35231128 | Missense_Mutation | A | G | p.T22A |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35231117 | 35231216 | 35231128 | 35231128 | Missense_Mutation | A | G | p.T22A |
| KYSE30_OESOPHAGUS | 35231117 | 35231216 | 35231144 | 35231144 | Missense_Mutation | A | C | p.K27T |
| TOV21G_OVARY | 35236466 | 35236583 | 35236477 | 35236477 | Missense_Mutation | G | A | p.R55H |
| HEC108_ENDOMETRIUM | 35236466 | 35236583 | 35236504 | 35236504 | Missense_Mutation | T | C | p.V64A |
| HEC1_ENDOMETRIUM | 35236466 | 35236583 | 35236525 | 35236525 | Missense_Mutation | G | T | p.W71L |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35243288 | 35243361 | 35243329 | 35243329 | Missense_Mutation | G | A | p.E146K |
| MKN7_STOMACH | 35295693 | 35295927 | 35295740 | 35295740 | Missense_Mutation | C | T | p.R192C |
| KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35295693 | 35295927 | 35295740 | 35295740 | Missense_Mutation | C | T | p.R192C |
| A204_SOFT_TISSUE | 35295693 | 35295927 | 35295753 | 35295753 | Missense_Mutation | G | C | p.S196T |
| TTC642_SOFT_TISSUE | 35295693 | 35295927 | 35295753 | 35295753 | Missense_Mutation | G | C | p.S196T |
| SKMEL30_SKIN | 35295693 | 35295927 | 35295786 | 35295786 | Missense_Mutation | C | T | p.S207F |
| JHUEM7_ENDOMETRIUM | 35295693 | 35295927 | 35295821 | 35295821 | Missense_Mutation | C | T | p.P219S |
| KYSE140_OESOPHAGUS | 35295693 | 35295927 | 35295828 | 35295828 | Missense_Mutation | G | A | p.R221Q |
| OVISE_OVARY | 35295693 | 35295927 | 35295861 | 35295861 | Missense_Mutation | C | T | p.S232F |
| LS411N_LARGE_INTESTINE | 35295693 | 35295927 | 35295863 | 35295863 | Missense_Mutation | C | T | p.R233W |
| CCK81_LARGE_INTESTINE | 35310464 | 35310778 | 35310480 | 35310480 | Missense_Mutation | A | G | p.R260G |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35310464 | 35310778 | 35310490 | 35310490 | Missense_Mutation | C | T | p.S263F |
| HCC1833_LUNG | 35310464 | 35310778 | 35310678 | 35310678 | Missense_Mutation | G | A | p.E326K |
| SW620_LARGE_INTESTINE | 35310464 | 35310778 | 35310741 | 35310741 | Missense_Mutation | G | A | p.V347M |
| LU65_LUNG | 35313896 | 35313986 | 35313945 | 35313945 | Missense_Mutation | T | G | p.W376G |
| D341MED_CENTRAL_NERVOUS_SYSTEM | 35370315 | 35370393 | 35370322 | 35370322 | Missense_Mutation | G | A | p.G408R |
| JHUEM1_ENDOMETRIUM | 35375124 | 35375198 | 35375128 | 35375128 | Missense_Mutation | T | C | p.L433P |
| PEO1_OVARY | 35375124 | 35375198 | 35375140 | 35375140 | Missense_Mutation | G | T | p.R437L |
| HS611T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35375124 | 35375198 | 35375145 | 35375145 | Missense_Mutation | G | C | p.A439P |
| CW2_LARGE_INTESTINE | 35375124 | 35375198 | 35375178 | 35375178 | Missense_Mutation | T | C | p.S450P |
| HCT15_LARGE_INTESTINE | 35375124 | 35375198 | 35375179 | 35375179 | Missense_Mutation | C | G | p.S450C |
| L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35381097 | 35381212 | 35381132 | 35381132 | Missense_Mutation | A | G | p.I722V |
| HEC108_ENDOMETRIUM | 35381097 | 35381212 | 35381187 | 35381187 | Missense_Mutation | A | G | p.H740R |
| TK10_KIDNEY | 35385721 | 35385810 | 35385749 | 35385749 | Missense_Mutation | G | A | p.R886Q |
| NCIH1770_LUNG | 35385721 | 35385810 | 35385767 | 35385767 | Missense_Mutation | C | T | p.S892F |
| NCIH889_LUNG | 35385721 | 35385810 | 35385793 | 35385793 | Missense_Mutation | A | T | p.T901S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 35398208 | 35398285 | 35398229 | 35398229 | Missense_Mutation | G | A | p.V1177M |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35398208 | 35398285 | 35398229 | 35398229 | Missense_Mutation | G | A | p.V1177M |
| SKUT1_SOFT_TISSUE | 35399389 | 35399445 | 35399411 | 35399411 | Missense_Mutation | C | G | p.A1325G |
| HCC2108_LUNG | 35310464 | 35310778 | 35310699 | 35310699 | Nonsense_Mutation | G | T | p.E333* |
| CW9019_SOFT_TISSUE | 35313896 | 35313986 | 35313951 | 35313951 | Nonsense_Mutation | C | T | p.R378* |
| NCIH146_LUNG | 35295693 | 35295927 | 35295694 | 35295694 | Splice_Site | T | - | p.S176fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UNC13B |
| 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 UNC13B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UNC13B |
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RelatedDrugs for UNC13B |
| 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 UNC13B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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