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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 UNC13A |
 Gene summary |
| Gene information | Gene symbol | UNC13A | Gene ID | 23025 |
| Gene name | unc-13 homolog A | |
| Synonyms | Munc13-1 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | protein unc-13 homolog A | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 32392183(Genetic regulatory subnetworks and key regulating genes in rat hippocampus perturbed by prenatal malnutrition: implications for major brain disorders) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| UNC13A | GO:1903861 | positive regulation of dendrite extension | 23999003 |
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Gene structures and expression levels for UNC13A |
| 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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ENSG00000130477
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 UNC13A |
| 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_132854 | chr19 | 17652631:17652677:17655274:17655382:17655883:17656398 | 17655274:17655382 |
| exon_skip_136881 | chr19 | 17629247:17629323:17630145:17630288:17630654:17630750 | 17630145:17630288 |
| exon_skip_148294 | chr19 | 17609975:17610099:17611763:17611855:17617702:17617849 | 17611763:17611855 |
| exon_skip_149593 | chr19 | 17663532:17663567:17666650:17666704:17668117:17668190 | 17666650:17666704 |
| exon_skip_195854 | chr19 | 17617702:17617849:17618421:17618501:17618906:17618962 | 17618421:17618501 |
| exon_skip_200765 | chr19 | 17674657:17674756:17676012:17676041:17688178:17688199 | 17676012:17676041 |
| exon_skip_228925 | chr19 | 17629243:17629323:17630145:17630288:17630654:17630750 | 17630145:17630288 |
| exon_skip_240072 | chr19 | 17648912:17648983:17649339:17649344:17649509:17649582 | 17649339:17649344 |
| exon_skip_247350 | chr19 | 17611763:17611855:17616408:17616464:17617702:17617849 | 17616408:17616464 |
| exon_skip_52334 | chr19 | 17627863:17627940:17629240:17629323:17630145:17630288 | 17629240:17629323 |
| exon_skip_76752 | chr19 | 17621832:17621870:17623542:17623547:17624829:17624952 | 17623542:17623547 |
| exon_skip_81421 | chr19 | 17658062:17658269:17663532:17663567:17666650:17666704 | 17663532:17663567 |
| exon_skip_8168 | chr19 | 17648912:17648983:17649339:17649344:17649509:17649587 | 17649339:17649344 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for UNC13A |
| 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 |
| ENST00000519716 | 17655274 | 17655382 | Frame-shift |
| ENST00000519716 | 17666650 | 17666704 | Frame-shift |
| ENST00000519716 | 17611763 | 17611855 | In-frame |
| ENST00000519716 | 17618421 | 17618501 | In-frame |
| ENST00000519716 | 17623542 | 17623547 | In-frame |
| ENST00000519716 | 17630145 | 17630288 | In-frame |
| ENST00000519716 | 17649339 | 17649344 | In-frame |
| ENST00000519716 | 17663532 | 17663567 | 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 |
| ENST00000519716 | 17611763 | 17611855 | In-frame |
| ENST00000519716 | 17649339 | 17649344 | In-frame |
| ENST00000519716 | 17663532 | 17663567 | 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 |
| ENST00000519716 | 17655274 | 17655382 | Frame-shift |
| ENST00000519716 | 17666650 | 17666704 | Frame-shift |
| ENST00000519716 | 17611763 | 17611855 | In-frame |
| ENST00000519716 | 17618421 | 17618501 | In-frame |
| ENST00000519716 | 17623542 | 17623547 | In-frame |
| ENST00000519716 | 17629240 | 17629323 | In-frame |
| ENST00000519716 | 17630145 | 17630288 | In-frame |
| ENST00000519716 | 17649339 | 17649344 | In-frame |
| ENST00000519716 | 17663532 | 17663567 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UNC13A |
p-ENSG00000130477_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 |
| ENST00000519716 | 9855 | 1703 | 17663532 | 17663567 | 524 | 558 | 174 | 186 |
| ENST00000519716 | 9855 | 1703 | 17630145 | 17630288 | 3526 | 3668 | 1175 | 1222 |
| ENST00000519716 | 9855 | 1703 | 17618421 | 17618501 | 4330 | 4409 | 1443 | 1469 |
| ENST00000519716 | 9855 | 1703 | 17611763 | 17611855 | 4559 | 4650 | 1519 | 1550 |
| 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 |
| ENST00000519716 | 9855 | 1703 | 17663532 | 17663567 | 524 | 558 | 174 | 186 |
| ENST00000519716 | 9855 | 1703 | 17611763 | 17611855 | 4559 | 4650 | 1519 | 1550 |
| 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 |
| ENST00000519716 | 9855 | 1703 | 17663532 | 17663567 | 524 | 558 | 174 | 186 |
| ENST00000519716 | 9855 | 1703 | 17630145 | 17630288 | 3526 | 3668 | 1175 | 1222 |
| ENST00000519716 | 9855 | 1703 | 17629240 | 17629323 | 3670 | 3752 | 1223 | 1250 |
| ENST00000519716 | 9855 | 1703 | 17618421 | 17618501 | 4330 | 4409 | 1443 | 1469 |
| ENST00000519716 | 9855 | 1703 | 17611763 | 17611855 | 4559 | 4650 | 1519 | 1550 |
| 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 |
| Q9UPW8 | 174 | 186 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1175 | 1222 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1175 | 1222 | 1093 | 1236 | Domain | Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 |
| Q9UPW8 | 1443 | 1469 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1443 | 1469 | 1345 | 1512 | Domain | Note=MHD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00588 |
| Q9UPW8 | 1519 | 1550 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1519 | 1550 | 1532 | 1637 | Domain | Note=C2 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| 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 |
| Q9UPW8 | 174 | 186 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1519 | 1550 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1519 | 1550 | 1532 | 1637 | Domain | Note=C2 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| 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 |
| Q9UPW8 | 174 | 186 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1175 | 1222 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1175 | 1222 | 1093 | 1236 | Domain | Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 |
| Q9UPW8 | 1223 | 1250 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1223 | 1250 | 1093 | 1236 | Domain | Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 |
| Q9UPW8 | 1443 | 1469 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1443 | 1469 | 1345 | 1512 | Domain | Note=MHD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00588 |
| Q9UPW8 | 1519 | 1550 | 1 | 1703 | Chain | ID=PRO_0000188573;Note=Protein unc-13 homolog A |
| Q9UPW8 | 1519 | 1550 | 1532 | 1637 | Domain | Note=C2 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
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3'-UTR located exon skipping events that lost miRNA binding sites in UNC13A |
| 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 UNC13A |
| - 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 UNC13A |
| 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 UNC13A |
| 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 UNC13A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for UNC13A |
| 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 UNC13A |
| 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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