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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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|munc13-2 | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | protein unc-13 homolog Bhomolog of rat Munc13 (diacylglycerol-binding)unc-13-like | |
| Modification date | 20200329 | |
| UniProtAcc | A0A0U1RRB5, | |
| Context |
| 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:0060478 | acrosomal vesicle exocytosis | 22248876 |
| UNC13B | GO:0071333 | cellular response to glucose stimulus | 19641095 |
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Gene structures and expression levels for UNC13B |
| Skipped 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. |
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ENSG00000198722
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000378495.7 | UNC13B-201:protein_coding:UNC13B | 1.633565e+02 | 1.146261e+00 | 1.685562e-03 | 2.115002e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for UNC13B |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_104588 | chr9 | 35396841:35396937:35397167:35397310:35397635:35397712 | 35397167:35397310 |
| exon_skip_118774 | chr9 | 35310467:35310781:35313899:35313989:35364545:35364567 | 35313899:35313989 |
| exon_skip_131941 | chr9 | 35341830:35342344:35351294:35353810:35364545:35364567 | 35351294:35353810 |
| exon_skip_140187 | chr9 | 35397635:35397712:35398211:35398288:35398554:35398642 | 35398211:35398288 |
| exon_skip_176658 | chr9 | 35400312:35400443:35401951:35402007:35403167:35403259 | 35401951:35402007 |
| exon_skip_184059 | chr9 | 35243291:35243364:35258993:35259050:35295696:35295930 | 35258993:35259050 |
| exon_skip_202094 | chr9 | 35258993:35259050:35291069:35291104:35295696:35295930 | 35291069:35291104 |
| exon_skip_222896 | chr9 | 35351294:35353810:35364545:35364567:35366947:35366993 | 35364545:35364567 |
| exon_skip_272521 | chr9 | 35237703:35237826:35243291:35243364:35258993:35259050 | 35243291:35243364 |
| exon_skip_272552 | chr9 | 35310599:35310781:35313899:35313989:35364545:35364567 | 35313899:35313989 |
| exon_skip_278024 | chr9 | 35295786:35295930:35300166:35308412:35310467:35310781 | 35300166:35308412 |
| exon_skip_279071 | chr9 | 35370318:35370396:35371934:35371939:35375127:35375201 | 35371934:35371939 |
| exon_skip_285160 | chr9 | 35313899:35313989:35364545:35364567:35366947:35366993 | 35364545:35364567 |
| exon_skip_32521 | chr9 | 35228015:35228044:35231120:35231219:35236469:35236586 | 35231120:35231219 |
| exon_skip_49495 | chr9 | 35396912:35396937:35397167:35397310:35397635:35397712 | 35397167:35397310 |
| exon_skip_52692 | chr9 | 35162104:35162305:35228015:35228044:35231120:35231219 | 35228015:35228044 |
| exon_skip_61764 | chr9 | 35400296:35400443:35401951:35402007:35403167:35403259 | 35401951:35402007 |
| exon_skip_72594 | chr9 | 35370318:35370396:35375127:35375201:35376028:35376247 | 35375127:35375201 |
| exon_skip_77313 | chr9 | 35384246:35384314:35385724:35385813:35386165:35386293 | 35385724:35385813 |
| exon_skip_86780 | chr9 | 35295696:35295930:35300166:35308412:35310467:35310781 | 35300166:35308412 |
| exon_skip_95358 | chr9 | 35380470:35380639:35381100:35381215:35381556:35381719 | 35381100:35381215 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_279071 | Mayo_TC | 9.087500e-02 | 1.987500e-01 | -1.078750e-01 | 1.820557e-05 |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000378495 | 35381100 | 35381215 | Frame-shift |
| ENST00000378495 | 35375127 | 35375201 | In-frame |
| ENST00000378495 | 35397167 | 35397310 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000378495 | 35381100 | 35381215 | Frame-shift |
| ENST00000378495 | 35375127 | 35375201 | In-frame |
| ENST00000378495 | 35397167 | 35397310 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000378495 | 35231120 | 35231219 | Frame-shift |
| ENST00000378495 | 35243291 | 35243364 | Frame-shift |
| ENST00000378495 | 35258993 | 35259050 | Frame-shift |
| ENST00000378495 | 35381100 | 35381215 | Frame-shift |
| ENST00000378495 | 35228015 | 35228044 | In-frame |
| ENST00000378495 | 35375127 | 35375201 | In-frame |
| ENST00000378495 | 35385724 | 35385813 | In-frame |
| ENST00000378495 | 35397167 | 35397310 | In-frame |
| ENST00000378495 | 35398211 | 35398288 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UNC13B |
p-ENSG00000198722_img4.png |
| Loci of skipped exons in ROSMAP 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 | 35375127 | 35375201 | 1517 | 1590 | 431 | 456 |
| ENST00000378495 | 6320 | 1591 | 35397167 | 35397310 | 3509 | 3651 | 1095 | 1143 |
| Loci of skipped exons in MSBB 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 | 35375127 | 35375201 | 1517 | 1590 | 431 | 456 |
| ENST00000378495 | 6320 | 1591 | 35397167 | 35397310 | 3509 | 3651 | 1095 | 1143 |
| Loci of skipped exons in Mayo 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 | 35228015 | 35228044 | 246 | 274 | 8 | 17 |
| ENST00000378495 | 6320 | 1591 | 35375127 | 35375201 | 1517 | 1590 | 431 | 456 |
| ENST00000378495 | 6320 | 1591 | 35385724 | 35385813 | 2852 | 2940 | 876 | 906 |
| ENST00000378495 | 6320 | 1591 | 35397167 | 35397310 | 3509 | 3651 | 1095 | 1143 |
| ENST00000378495 | 6320 | 1591 | 35398211 | 35398288 | 3731 | 3807 | 1169 | 1195 |
| 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 feature | Description of feature |
| O14795 | 431 | 456 | 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 |
| 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 feature | Description of feature |
| O14795 | 431 | 456 | 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 |
| 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 feature | Description of feature |
| O14795 | 8 | 17 | 1 | 1591 | Chain | ID=PRO_0000188575;Note=Protein unc-13 homolog B |
| O14795 | 8 | 17 | 1 | 79 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| O14795 | 8 | 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in UNC13B |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for UNC13B |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for UNC13B |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UNC13B |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for UNC13B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | RBFOX2 | exon_skip_61764 | 7.853431e-01 | 1.043424e-70 |
| HCC | RBFOX2 | exon_skip_61764 | 4.421718e-01 | 1.900124e-14 |
| HCC | MSI1 | exon_skip_61764 | -4.154931e-01 | 8.893979e-13 |
| HCC | HNRNPF | exon_skip_61764 | -4.383854e-01 | 3.348673e-14 |
| IFG | RBFOX2 | exon_skip_61764 | 5.271460e-01 | 5.655301e-03 |
| IFG | HNRNPF | exon_skip_61764 | -4.151403e-01 | 3.494977e-02 |
| PCC | RBFOX2 | exon_skip_176658 | 6.885978e-01 | 5.367093e-31 |
| PCC | MSI1 | exon_skip_176658 | -4.411913e-01 | 1.836518e-11 |
| PCC | HNRNPF | exon_skip_176658 | -5.918318e-01 | 2.490932e-21 |
| TC | NUP42 | exon_skip_285160 | 4.837728e-01 | 3.190815e-09 |
| TC | RBFOX2 | exon_skip_61764 | 8.285003e-01 | 1.243673e-41 |
| TC | MSI1 | exon_skip_61764 | -4.252222e-01 | 2.084449e-08 |
| TC | NUP42 | exon_skip_61764 | 6.809313e-01 | 3.899749e-23 |
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RelatedDrugs for UNC13B |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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 |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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