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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 UNC13C |
 Gene summary |
| Gene information | Gene symbol | UNC13C | Gene ID | 440279 |
| Gene name | unc-13 homolog C | |
| Synonyms | - | |
| Cytomap | 15q21.3 | |
| Type of gene | protein-coding | |
| Description | protein unc-13 homolog CMunc13-3unc-13-like 3 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 23705665(Genes and pathways underlying regional and cell type changes in Alzheimer's disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for UNC13C |
| 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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ENSG00000137766
| 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 UNC13C |
| 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_137225 | chr15 | 54012904:54015886:54143018:54143040:54143620:54143673 | 54143018:54143040 |
| exon_skip_144622 | chr15 | 54507117:54507194:54511753:54511830:54525549:54525637 | 54511753:54511830 |
| exon_skip_145567 | chr15 | 54500079:54500175:54500835:54500978:54507117:54507194 | 54500835:54500978 |
| exon_skip_151926 | chr15 | 54237619:54237690:54250225:54250444:54264168:54264395 | 54250225:54250444 |
| exon_skip_171151 | chr15 | 54555432:54555512:54567800:54567947:54622327:54622419 | 54567800:54567947 |
| exon_skip_212067 | chr15 | 54321939:54322095:54332043:54332111:54333767:54333856 | 54332043:54332111 |
| exon_skip_212627 | chr15 | 54235030:54235108:54237619:54237690:54250225:54250444 | 54237619:54237690 |
| exon_skip_219520 | chr15 | 54525549:54525637:54532917:54533066:54546722:54546823 | 54532917:54533066 |
| exon_skip_228517 | chr15 | 54332043:54332111:54333767:54333856:54338361:54338489 | 54333767:54333856 |
| exon_skip_22997 | chr15 | 54567800:54567947:54622327:54622419:54623795:54623893 | 54622327:54622419 |
| exon_skip_245393 | chr15 | 54525553:54525637:54532917:54533066:54546722:54546823 | 54532917:54533066 |
| exon_skip_258711 | chr15 | 54511753:54511830:54525549:54525637:54532917:54533066 | 54525549:54525637 |
| exon_skip_42189 | chr15 | 54338361:54338489:54393048:54393181:54414982:54415067 | 54393048:54393181 |
| exon_skip_59313 | chr15 | 54500971:54500978:54507117:54507194:54511753:54511830 | 54507117:54507194 |
| exon_skip_67842 | chr15 | 54235030:54235108:54236430:54236435:54237619:54237690 | 54236430:54236435 |
| exon_skip_74290 | chr15 | 54511753:54511830:54512348:54512377:54525549:54525637 | 54512348:54512377 |
| 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 UNC13C |
| 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 |
| ENST00000260323 | 54393048 | 54393181 | Frame-shift |
| ENST00000260323 | 54236430 | 54236435 | In-frame |
| ENST00000260323 | 54333767 | 54333856 | In-frame |
| ENST00000260323 | 54507117 | 54507194 | In-frame |
| ENST00000260323 | 54511753 | 54511830 | In-frame |
| ENST00000260323 | 54532917 | 54533066 | 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 |
| ENST00000260323 | 54250225 | 54250444 | Frame-shift |
| ENST00000260323 | 54393048 | 54393181 | Frame-shift |
| ENST00000260323 | 54236430 | 54236435 | In-frame |
| ENST00000260323 | 54333767 | 54333856 | In-frame |
| ENST00000260323 | 54511753 | 54511830 | In-frame |
| ENST00000260323 | 54532917 | 54533066 | 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 |
| ENST00000260323 | 54143018 | 54143040 | Frame-shift |
| ENST00000260323 | 54250225 | 54250444 | Frame-shift |
| ENST00000260323 | 54393048 | 54393181 | Frame-shift |
| ENST00000260323 | 54525549 | 54525637 | Frame-shift |
| ENST00000260323 | 54567800 | 54567947 | Frame-shift |
| ENST00000260323 | 54236430 | 54236435 | In-frame |
| ENST00000260323 | 54332043 | 54332111 | In-frame |
| ENST00000260323 | 54333767 | 54333856 | In-frame |
| ENST00000260323 | 54500835 | 54500978 | In-frame |
| ENST00000260323 | 54507117 | 54507194 | In-frame |
| ENST00000260323 | 54511753 | 54511830 | In-frame |
| ENST00000260323 | 54532917 | 54533066 | In-frame |
| ENST00000260323 | 54622327 | 54622419 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UNC13C |
p-ENSG00000137766_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 |
| ENST00000260323 | 12963 | 2214 | 54333767 | 54333856 | 4496 | 4584 | 1498 | 1528 |
| ENST00000260323 | 12963 | 2214 | 54507117 | 54507194 | 5303 | 5379 | 1767 | 1793 |
| ENST00000260323 | 12963 | 2214 | 54511753 | 54511830 | 5381 | 5457 | 1793 | 1819 |
| ENST00000260323 | 12963 | 2214 | 54532917 | 54533066 | 5548 | 5696 | 1849 | 1898 |
| 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 |
| ENST00000260323 | 12963 | 2214 | 54333767 | 54333856 | 4496 | 4584 | 1498 | 1528 |
| ENST00000260323 | 12963 | 2214 | 54511753 | 54511830 | 5381 | 5457 | 1793 | 1819 |
| ENST00000260323 | 12963 | 2214 | 54532917 | 54533066 | 5548 | 5696 | 1849 | 1898 |
| 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 |
| ENST00000260323 | 12963 | 2214 | 54332043 | 54332111 | 4427 | 4494 | 1475 | 1498 |
| ENST00000260323 | 12963 | 2214 | 54333767 | 54333856 | 4496 | 4584 | 1498 | 1528 |
| ENST00000260323 | 12963 | 2214 | 54500835 | 54500978 | 5159 | 5301 | 1719 | 1767 |
| ENST00000260323 | 12963 | 2214 | 54507117 | 54507194 | 5303 | 5379 | 1767 | 1793 |
| ENST00000260323 | 12963 | 2214 | 54511753 | 54511830 | 5381 | 5457 | 1793 | 1819 |
| ENST00000260323 | 12963 | 2214 | 54532917 | 54533066 | 5548 | 5696 | 1849 | 1898 |
| ENST00000260323 | 12963 | 2214 | 54622327 | 54622419 | 6108 | 6199 | 2036 | 2066 |
| 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 |
| Q8NB66 | 1498 | 1528 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1767 | 1793 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1767 | 1793 | 1637 | 1780 | Domain | Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 |
| Q8NB66 | 1793 | 1819 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1849 | 1898 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1849 | 1898 | 1886 | 2028 | Domain | Note=MHD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00588 |
| 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 |
| Q8NB66 | 1498 | 1528 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1793 | 1819 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1849 | 1898 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1849 | 1898 | 1886 | 2028 | Domain | Note=MHD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00588 |
| 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 |
| Q8NB66 | 1475 | 1498 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1498 | 1528 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1719 | 1767 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1719 | 1767 | 1637 | 1780 | Domain | Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 |
| Q8NB66 | 1767 | 1793 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1767 | 1793 | 1637 | 1780 | Domain | Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00587 |
| Q8NB66 | 1793 | 1819 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1849 | 1898 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 1849 | 1898 | 1886 | 2028 | Domain | Note=MHD2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00588 |
| Q8NB66 | 2036 | 2066 | 1 | 2214 | Chain | ID=PRO_0000188578;Note=Protein unc-13 homolog C |
| Q8NB66 | 2036 | 2066 | 2048 | 2153 | Domain | Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q8NB66 | 2036 | 2066 | 2036 | 2036 | Sequence conflict | Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in UNC13C |
| 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 UNC13C |
| - 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 UNC13C |
| 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 UNC13C |
| 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 UNC13C |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | PABPN1L | exon_skip_144622 | 5.362142e-01 | 4.747108e-03 |
| IFG | SAMD4A | exon_skip_144622 | 4.359648e-01 | 2.598813e-02 |
| IFG | RBM5 | exon_skip_144622 | 4.549210e-01 | 1.954054e-02 |
| IFG | TRA2A | exon_skip_144622 | 4.585258e-01 | 1.847687e-02 |
| IFG | FUBP1 | exon_skip_144622 | 5.819081e-01 | 1.818061e-03 |
| IFG | PABPC5 | exon_skip_144622 | 4.355358e-01 | 2.615183e-02 |
| IFG | SRSF1 | exon_skip_144622 | 5.115158e-01 | 7.564372e-03 |
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RelatedDrugs for UNC13C |
| 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 UNC13C |
| 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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