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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 TBC1D5 |
 Gene summary |
| Gene information | Gene symbol | TBC1D5 | Gene ID | 9779 |
| Gene name | TBC1 domain family member 5 | |
| Synonyms | - | |
| Cytomap | 3p24.3 | |
| Type of gene | protein-coding | |
| Description | TBC1 domain family member 5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q92609 | |
| Context | PubMed: TBC1D5 [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 |
| TBC1D5 | GO:0006914 | autophagy | 22354992 |
| TBC1D5 | GO:0042594 | response to starvation | 22354992 |
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Exon skipping events across known transcript of Ensembl for TBC1D5 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 TBC1D5 |
| 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 TBC1D5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381810 | 3 | 17255698:17255862:17275176:17275242:17279654:17279749 | 17275176:17275242 | ENSG00000131374.10 | ENST00000446818.2,ENST00000429924.2 |
| exon_skip_381812 | 3 | 17255698:17255862:17279654:17279911:17299997:17300083 | 17279654:17279911 | ENSG00000131374.10 | ENST00000429383.4,ENST00000253692.7,ENST00000414318.2 |
| exon_skip_381815 | 3 | 17279654:17279911:17299997:17300083:17333386:17333493 | 17299997:17300083 | ENSG00000131374.10 | ENST00000429383.4,ENST00000446818.2,ENST00000253692.7,ENST00000429924.2 |
| exon_skip_381817 | 3 | 17299997:17300083:17333386:17333493:17349483:17349623 | 17333386:17333493 | ENSG00000131374.10 | ENST00000429383.4,ENST00000446818.2,ENST00000253692.7,ENST00000429924.2 |
| exon_skip_381821 | 3 | 17349483:17349626:17413566:17413739:17415962:17416032 | 17413566:17413739 | ENSG00000131374.10 | ENST00000429383.4,ENST00000446818.2,ENST00000253692.7,ENST00000429924.2 |
| exon_skip_381823 | 3 | 17413566:17413739:17415962:17416032:17416120:17416171 | 17415962:17416032 | ENSG00000131374.10 | ENST00000429383.4,ENST00000446818.2,ENST00000253692.7,ENST00000429924.2 |
| exon_skip_381824 | 3 | 17415962:17416032:17416120:17416171:17418016:17418105 | 17416120:17416171 | ENSG00000131374.10 | ENST00000429383.4,ENST00000446818.2,ENST00000253692.7,ENST00000429924.2 |
| exon_skip_381825 | 3 | 17416120:17416171:17418016:17418105:17425404:17425507 | 17418016:17418105 | ENSG00000131374.10 | ENST00000429383.4,ENST00000446818.2,ENST00000253692.7,ENST00000429924.2 |
| exon_skip_381828 | 3 | 17447963:17448018:17469941:17470011:17549965:17550093 | 17469941:17470011 | ENSG00000131374.10 | ENST00000445294.1,ENST00000415814.2,ENST00000429383.4,ENST00000446863.1,ENST00000497531.1,ENST00000414349.1,ENST00000507877.1,ENST00000434420.1,ENST00000443499.2,ENST00000425944.1,ENST00000446818.2,ENST00000253692.7,ENST00000428355.1 |
| exon_skip_381836 | 3 | 17447963:17448018:17549965:17550097:17664139:17664257 | 17549965:17550097 | ENSG00000131374.10 | ENST00000443386.1,ENST00000444756.1 |
| exon_skip_381837 | 3 | 17447963:17448018:17549965:17550097:17665340:17665405 | 17549965:17550097 | ENSG00000131374.10 | ENST00000412981.1 |
| exon_skip_381838 | 3 | 17447963:17448018:17549965:17550097:17783972:17783990 | 17549965:17550097 | ENSG00000131374.10 | ENST00000452492.2,ENST00000430169.1 |
| exon_skip_381847 | 3 | 17469941:17470011:17549965:17550097:17664139:17664257 | 17549965:17550097 | ENSG00000131374.10 | ENST00000443499.2 |
| exon_skip_381848 | 3 | 17469941:17470011:17549965:17550097:17665340:17665405 | 17549965:17550097 | ENSG00000131374.10 | ENST00000445294.1,ENST00000446818.2,ENST00000253692.7 |
| exon_skip_381849 | 3 | 17469941:17470011:17549965:17550097:17783972:17783990 | 17549965:17550097 | ENSG00000131374.10 | ENST00000425944.1 |
| exon_skip_381875 | 3 | 17550040:17550097:17560393:17560487:17617905:17618041 | 17560393:17560487 | ENSG00000131374.10 | ENST00000444471.1 |
| exon_skip_381877 | 3 | 17550040:17550097:17560393:17560487:17664139:17664257 | 17560393:17560487 | ENSG00000131374.10 | ENST00000497531.1 |
| exon_skip_381878 | 3 | 17550040:17550097:17560393:17560487:17665340:17665405 | 17560393:17560487 | ENSG00000131374.10 | ENST00000428355.1 |
| exon_skip_381880 | 3 | 17550040:17550097:17560393:17560487:17783972:17783990 | 17560393:17560487 | ENSG00000131374.10 | ENST00000415814.2 |
| exon_skip_381886 | 3 | 17550040:17550097:17588507:17588568:17665340:17665408 | 17588507:17588568 | ENSG00000131374.10 | ENST00000434420.1 |
| exon_skip_381889 | 3 | 17550040:17550097:17603510:17603634:17627844:17627958 | 17603510:17603634 | ENSG00000131374.10 | ENST00000486224.1 |
| exon_skip_381891 | 3 | 17550040:17550097:17603510:17603634:17665340:17665405 | 17603510:17603634 | ENSG00000131374.10 | ENST00000446863.1 |
| exon_skip_381892 | 3 | 17550040:17550097:17603510:17603634:17783972:17783990 | 17603510:17603634 | ENSG00000131374.10 | ENST00000429383.4 |
| exon_skip_381896 | 3 | 17550040:17550097:17617905:17618041:17627844:17627958 | 17617905:17618041 | ENSG00000131374.10 | ENST00000507877.1 |
| exon_skip_381902 | 3 | 17550040:17550097:17627844:17628049:17664139:17664257 | 17627844:17628049 | ENSG00000131374.10 | ENST00000481396.1 |
| exon_skip_381905 | 3 | 17550040:17550097:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000433533.1,ENST00000443499.2,ENST00000443386.1,ENST00000444756.1 |
| exon_skip_381912 | 3 | 17550040:17550097:17665340:17665405:17783972:17783990 | 17665340:17665405 | ENSG00000131374.10 | ENST00000412981.1,ENST00000445294.1 |
| exon_skip_381924 | 3 | 17560393:17560487:17617905:17618041:17664139:17664257 | 17617905:17618041 | ENSG00000131374.10 | ENST00000444471.1 |
| exon_skip_381932 | 3 | 17560393:17560487:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000497531.1 |
| exon_skip_381936 | 3 | 17560393:17560487:17665340:17665405:17783972:17783990 | 17665340:17665405 | ENSG00000131374.10 | ENST00000428355.1 |
| exon_skip_381955 | 3 | 17603510:17603634:17627844:17628049:17665340:17665405 | 17627844:17628049 | ENSG00000131374.10 | ENST00000486224.1 |
| exon_skip_381958 | 3 | 17603510:17603634:17665340:17665405:17783972:17783990 | 17665340:17665405 | ENSG00000131374.10 | ENST00000446863.1 |
| exon_skip_381965 | 3 | 17617973:17618041:17627844:17628049:17664139:17664257 | 17627844:17628049 | ENSG00000131374.10 | ENST00000423331.2 |
| exon_skip_381968 | 3 | 17617973:17618041:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000444471.1,ENST00000480435.1 |
| exon_skip_381971 | 3 | 17627844:17627958:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000485432.1 |
| exon_skip_381972 | 3 | 17627844:17628049:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000423331.2,ENST00000481396.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TBC1D5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381810 | 3 | 17255698:17255862:17275176:17275242:17279654:17279749 | 17275176:17275242 | ENSG00000131374.10 | ENST00000446818.2,ENST00000429924.2 |
| exon_skip_381812 | 3 | 17255698:17255862:17279654:17279911:17299997:17300083 | 17279654:17279911 | ENSG00000131374.10 | ENST00000253692.7,ENST00000429383.4,ENST00000414318.2 |
| exon_skip_381815 | 3 | 17279654:17279911:17299997:17300083:17333386:17333493 | 17299997:17300083 | ENSG00000131374.10 | ENST00000253692.7,ENST00000429383.4,ENST00000446818.2,ENST00000429924.2 |
| exon_skip_381817 | 3 | 17299997:17300083:17333386:17333493:17349483:17349623 | 17333386:17333493 | ENSG00000131374.10 | ENST00000253692.7,ENST00000429383.4,ENST00000446818.2,ENST00000429924.2 |
| exon_skip_381821 | 3 | 17349483:17349626:17413566:17413739:17415962:17416032 | 17413566:17413739 | ENSG00000131374.10 | ENST00000253692.7,ENST00000429383.4,ENST00000446818.2,ENST00000429924.2 |
| exon_skip_381823 | 3 | 17413566:17413739:17415962:17416032:17416120:17416171 | 17415962:17416032 | ENSG00000131374.10 | ENST00000253692.7,ENST00000429383.4,ENST00000446818.2,ENST00000429924.2 |
| exon_skip_381824 | 3 | 17415962:17416032:17416120:17416171:17418016:17418105 | 17416120:17416171 | ENSG00000131374.10 | ENST00000253692.7,ENST00000429383.4,ENST00000446818.2,ENST00000429924.2 |
| exon_skip_381825 | 3 | 17416120:17416171:17418016:17418105:17425404:17425507 | 17418016:17418105 | ENSG00000131374.10 | ENST00000253692.7,ENST00000429383.4,ENST00000446818.2,ENST00000429924.2 |
| exon_skip_381828 | 3 | 17447963:17448018:17469941:17470011:17549965:17550093 | 17469941:17470011 | ENSG00000131374.10 | ENST00000253692.7,ENST00000429383.4,ENST00000446818.2,ENST00000415814.2,ENST00000428355.1,ENST00000425944.1,ENST00000445294.1,ENST00000414349.1,ENST00000443499.2,ENST00000497531.1,ENST00000507877.1,ENST00000446863.1,ENST00000434420.1 |
| exon_skip_381837 | 3 | 17447963:17448018:17549965:17550097:17665340:17665405 | 17549965:17550097 | ENSG00000131374.10 | ENST00000412981.1 |
| exon_skip_381838 | 3 | 17447963:17448018:17549965:17550097:17783972:17783990 | 17549965:17550097 | ENSG00000131374.10 | ENST00000452492.2,ENST00000430169.1 |
| exon_skip_381847 | 3 | 17469941:17470011:17549965:17550097:17664139:17664257 | 17549965:17550097 | ENSG00000131374.10 | ENST00000443499.2 |
| exon_skip_381848 | 3 | 17469941:17470011:17549965:17550097:17665340:17665405 | 17549965:17550097 | ENSG00000131374.10 | ENST00000253692.7,ENST00000446818.2,ENST00000445294.1 |
| exon_skip_381849 | 3 | 17469941:17470011:17549965:17550097:17783972:17783990 | 17549965:17550097 | ENSG00000131374.10 | ENST00000425944.1 |
| exon_skip_381875 | 3 | 17550040:17550097:17560393:17560487:17617905:17618041 | 17560393:17560487 | ENSG00000131374.10 | ENST00000444471.1 |
| exon_skip_381877 | 3 | 17550040:17550097:17560393:17560487:17664139:17664257 | 17560393:17560487 | ENSG00000131374.10 | ENST00000497531.1 |
| exon_skip_381878 | 3 | 17550040:17550097:17560393:17560487:17665340:17665405 | 17560393:17560487 | ENSG00000131374.10 | ENST00000428355.1 |
| exon_skip_381880 | 3 | 17550040:17550097:17560393:17560487:17783972:17783990 | 17560393:17560487 | ENSG00000131374.10 | ENST00000415814.2 |
| exon_skip_381886 | 3 | 17550040:17550097:17588507:17588568:17665340:17665408 | 17588507:17588568 | ENSG00000131374.10 | ENST00000434420.1 |
| exon_skip_381889 | 3 | 17550040:17550097:17603510:17603634:17627844:17627958 | 17603510:17603634 | ENSG00000131374.10 | ENST00000486224.1 |
| exon_skip_381891 | 3 | 17550040:17550097:17603510:17603634:17665340:17665405 | 17603510:17603634 | ENSG00000131374.10 | ENST00000446863.1 |
| exon_skip_381892 | 3 | 17550040:17550097:17603510:17603634:17783972:17783990 | 17603510:17603634 | ENSG00000131374.10 | ENST00000429383.4 |
| exon_skip_381896 | 3 | 17550040:17550097:17617905:17618041:17627844:17627958 | 17617905:17618041 | ENSG00000131374.10 | ENST00000507877.1 |
| exon_skip_381902 | 3 | 17550040:17550097:17627844:17628049:17664139:17664257 | 17627844:17628049 | ENSG00000131374.10 | ENST00000481396.1 |
| exon_skip_381905 | 3 | 17550040:17550097:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000443499.2,ENST00000443386.1,ENST00000444756.1,ENST00000433533.1 |
| exon_skip_381908 | 3 | 17550040:17550097:17665340:17665405:17704481:17704602 | 17665340:17665405 | ENSG00000131374.10 | ENST00000446818.2 |
| exon_skip_381912 | 3 | 17550040:17550097:17665340:17665405:17783972:17783990 | 17665340:17665405 | ENSG00000131374.10 | ENST00000412981.1,ENST00000445294.1 |
| exon_skip_381924 | 3 | 17560393:17560487:17617905:17618041:17664139:17664257 | 17617905:17618041 | ENSG00000131374.10 | ENST00000444471.1 |
| exon_skip_381932 | 3 | 17560393:17560487:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000497531.1 |
| exon_skip_381936 | 3 | 17560393:17560487:17665340:17665405:17783972:17783990 | 17665340:17665405 | ENSG00000131374.10 | ENST00000428355.1 |
| exon_skip_381955 | 3 | 17603510:17603634:17627844:17628049:17665340:17665405 | 17627844:17628049 | ENSG00000131374.10 | ENST00000486224.1 |
| exon_skip_381958 | 3 | 17603510:17603634:17665340:17665405:17783972:17783990 | 17665340:17665405 | ENSG00000131374.10 | ENST00000446863.1 |
| exon_skip_381965 | 3 | 17617973:17618041:17627844:17628049:17664139:17664257 | 17627844:17628049 | ENSG00000131374.10 | ENST00000423331.2 |
| exon_skip_381968 | 3 | 17617973:17618041:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000444471.1,ENST00000480435.1 |
| exon_skip_381971 | 3 | 17627844:17627958:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000485432.1 |
| exon_skip_381972 | 3 | 17627844:17628049:17664139:17664257:17665340:17665405 | 17664139:17664257 | ENSG00000131374.10 | ENST00000481396.1,ENST00000423331.2 |
| 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 TBC1D5 |
| 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 |
| ENST00000253692 | 17549965 | 17550097 | 3UTR-3CDS |
| ENST00000429383 | 17603510 | 17603634 | 3UTR-3UTR |
| ENST00000253692 | 17279654 | 17279911 | Frame-shift |
| ENST00000429383 | 17279654 | 17279911 | Frame-shift |
| ENST00000253692 | 17299997 | 17300083 | Frame-shift |
| ENST00000429383 | 17299997 | 17300083 | Frame-shift |
| ENST00000253692 | 17333386 | 17333493 | Frame-shift |
| ENST00000429383 | 17333386 | 17333493 | Frame-shift |
| ENST00000253692 | 17413566 | 17413739 | Frame-shift |
| ENST00000429383 | 17413566 | 17413739 | Frame-shift |
| ENST00000253692 | 17415962 | 17416032 | Frame-shift |
| ENST00000429383 | 17415962 | 17416032 | Frame-shift |
| ENST00000253692 | 17418016 | 17418105 | Frame-shift |
| ENST00000429383 | 17418016 | 17418105 | Frame-shift |
| ENST00000253692 | 17469941 | 17470011 | Frame-shift |
| ENST00000429383 | 17469941 | 17470011 | Frame-shift |
| ENST00000253692 | 17416120 | 17416171 | In-frame |
| ENST00000429383 | 17416120 | 17416171 | 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 |
| ENST00000253692 | 17549965 | 17550097 | 3UTR-3CDS |
| ENST00000429383 | 17603510 | 17603634 | 3UTR-3UTR |
| ENST00000253692 | 17279654 | 17279911 | Frame-shift |
| ENST00000429383 | 17279654 | 17279911 | Frame-shift |
| ENST00000253692 | 17299997 | 17300083 | Frame-shift |
| ENST00000429383 | 17299997 | 17300083 | Frame-shift |
| ENST00000253692 | 17333386 | 17333493 | Frame-shift |
| ENST00000429383 | 17333386 | 17333493 | Frame-shift |
| ENST00000253692 | 17413566 | 17413739 | Frame-shift |
| ENST00000429383 | 17413566 | 17413739 | Frame-shift |
| ENST00000253692 | 17415962 | 17416032 | Frame-shift |
| ENST00000429383 | 17415962 | 17416032 | Frame-shift |
| ENST00000253692 | 17418016 | 17418105 | Frame-shift |
| ENST00000429383 | 17418016 | 17418105 | Frame-shift |
| ENST00000253692 | 17469941 | 17470011 | Frame-shift |
| ENST00000429383 | 17469941 | 17470011 | Frame-shift |
| ENST00000253692 | 17416120 | 17416171 | In-frame |
| ENST00000429383 | 17416120 | 17416171 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TBC1D5 |
| 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 |
| ENST00000253692 | 7871 | 795 | 17416120 | 17416171 | 2367 | 2417 | 234 | 250 |
| ENST00000429383 | 3173 | 795 | 17416120 | 17416171 | 879 | 929 | 234 | 250 |
| 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 |
| ENST00000253692 | 7871 | 795 | 17416120 | 17416171 | 2367 | 2417 | 234 | 250 |
| ENST00000429383 | 3173 | 795 | 17416120 | 17416171 | 879 | 929 | 234 | 250 |
| 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 |
| Q92609 | 234 | 250 | 1 | 795 | Chain | ID=PRO_0000208028;Note=TBC1 domain family member 5 |
| Q92609 | 234 | 250 | 1 | 795 | Chain | ID=PRO_0000208028;Note=TBC1 domain family member 5 |
| Q92609 | 234 | 250 | 81 | 359 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
| Q92609 | 234 | 250 | 81 | 359 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
| 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 |
| Q92609 | 234 | 250 | 1 | 795 | Chain | ID=PRO_0000208028;Note=TBC1 domain family member 5 |
| Q92609 | 234 | 250 | 1 | 795 | Chain | ID=PRO_0000208028;Note=TBC1 domain family member 5 |
| Q92609 | 234 | 250 | 81 | 359 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
| Q92609 | 234 | 250 | 81 | 359 | Domain | Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 |
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SNVs in the skipped exons for TBC1D5 |
| - 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_381810 | 17275177 | 17275242 | 17275198 | 17275198 | Frame_Shift_Del | G | - | p.Q545fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_381812 | 17279655 | 17279911 | 17279831 | 17279831 | Frame_Shift_Del | G | - | p.P471fs |
| SKCM | TCGA-HR-A2OG-06 | exon_skip_381812 | 17279655 | 17279911 | 17279855 | 17279855 | Frame_Shift_Del | T | - | p.N463fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_381821 | 17413567 | 17413739 | 17413662 | 17413662 | Frame_Shift_Del | T | - | p.K300fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_381828 | 17469942 | 17470011 | 17469972 | 17469972 | Frame_Shift_Del | A | - | p.L46fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_381847 exon_skip_381849 exon_skip_381836 exon_skip_381837 exon_skip_381838 exon_skip_381848 | 17549966 | 17550097 | 17549994 | 17549994 | Frame_Shift_Del | G | - | p.P23fs |
| COAD | TCGA-A6-6654-01 | exon_skip_381812 | 17279655 | 17279911 | 17279658 | 17279658 | Nonsense_Mutation | T | A | p.K529X |
| COAD | TCGA-CK-5913-01 | exon_skip_381812 | 17279655 | 17279911 | 17279667 | 17279667 | Nonsense_Mutation | G | A | p.Q526X |
| COAD | TCGA-AA-A00E-01 | exon_skip_381812 | 17279655 | 17279911 | 17279703 | 17279703 | Nonsense_Mutation | G | A | p.Q514X |
| KIRC | TCGA-B0-5075-01 | exon_skip_381812 | 17279655 | 17279911 | 17279709 | 17279709 | Nonsense_Mutation | G | A | p.Q512* |
| KIRC | TCGA-B0-5075-01 | exon_skip_381812 | 17279655 | 17279911 | 17279709 | 17279709 | Nonsense_Mutation | G | A | p.Q512X |
| SKCM | TCGA-D3-A8GM-06 | exon_skip_381815 | 17299998 | 17300083 | 17300059 | 17300059 | Nonsense_Mutation | G | A | p.Q424* |
| BRCA | TCGA-BH-A0HY-01 | exon_skip_381823 | 17415963 | 17416032 | 17415993 | 17415993 | Nonsense_Mutation | C | T | p.W264* |
| KICH | TCGA-KL-8346-01 | exon_skip_381823 | 17415963 | 17416032 | 17415993 | 17415993 | Nonsense_Mutation | C | T | p.W264* |
| LUSC | TCGA-85-6561-01 | exon_skip_381825 | 17418017 | 17418105 | 17418096 | 17418096 | Nonsense_Mutation | C | A | p.E208* |
| LUAD | TCGA-05-4405-01 | exon_skip_381815 | 17299998 | 17300083 | 17299997 | 17299997 | Splice_Site | C | A | p.R444_splice |
| READ | TCGA-EI-6507-01 | exon_skip_381815 | 17299998 | 17300083 | 17300085 | 17300086 | Splice_Site | - | A | . |
| UCEC | TCGA-AP-A059-01 | exon_skip_381847 exon_skip_381849 exon_skip_381836 exon_skip_381837 exon_skip_381838 exon_skip_381848 | 17549966 | 17550097 | 17550098 | 17550098 | Splice_Site | C | T | e1-1 |
| - 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 |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17469942 | 17470011 | 17469995 | 17469996 | Frame_Shift_Ins | - | T | p.N38fs |
| UMUC6_URINARY_TRACT | 17279655 | 17279911 | 17279662 | 17279662 | Missense_Mutation | C | G | p.L527F |
| WM1552C_SKIN | 17299998 | 17300083 | 17300022 | 17300022 | Missense_Mutation | C | T | p.G436E |
| SNU1040_LARGE_INTESTINE | 17333387 | 17333493 | 17333409 | 17333409 | Missense_Mutation | G | A | p.A408V |
| NCIH1155_LUNG | 17413567 | 17413739 | 17413603 | 17413603 | Missense_Mutation | A | G | p.L320S |
| LS411N_LARGE_INTESTINE | 17413567 | 17413739 | 17413679 | 17413679 | Missense_Mutation | T | C | p.I295V |
| KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17413567 | 17413739 | 17413703 | 17413703 | Missense_Mutation | T | C | p.R287G |
| HCC78_LUNG | 17415963 | 17416032 | 17416001 | 17416001 | Missense_Mutation | C | T | p.E262K |
| MDAMB134VI_BREAST | 17418017 | 17418105 | 17418081 | 17418081 | Missense_Mutation | T | C | p.I213V |
| LCLC97TM1_LUNG | 17469942 | 17470011 | 17469997 | 17469997 | Missense_Mutation | T | A | p.N38Y |
| HEC1A_ENDOMETRIUM | 17415963 | 17416032 | 17416019 | 17416019 | Nonsense_Mutation | G | A | p.Q256* |
| HEC1_ENDOMETRIUM | 17415963 | 17416032 | 17416019 | 17416019 | Nonsense_Mutation | G | A | p.Q256* |
| HEC1B_ENDOMETRIUM | 17415963 | 17416032 | 17416019 | 17416019 | Nonsense_Mutation | G | A | p.Q256* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17418017 | 17418105 | 17418017 | 17418017 | Splice_Site | C | T | p.S234N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBC1D5 |
| 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 |
| exon_skip_381810 | 3 | 17255698:17255862:17275176:17275242:17279654:17279749 | 17275176:17275242 | ENST00000446818.2,ENST00000429924.2 | LGG | rs2060628 | chr3:17275173 | G/C | 2.28e-16 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D5 |
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RelatedDrugs for TBC1D5 |
| 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 TBC1D5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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