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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 SPG11 |
 Gene summary |
| Gene information | Gene symbol | SPG11 | Gene ID | 80208 |
| Gene name | SPG11, spatacsin vesicle trafficking associated | |
| Synonyms | ALS5|CMT2X|KIAA1840 | |
| Cytomap | 15q21.1 | |
| Type of gene | protein-coding | |
| Description | spatacsincolorectal carcinoma-associated proteinspastic paraplegia 11 (autosomal recessive)spastic paraplegia 11 protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q96JI7 | |
| Context | PubMed: SPG11 [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 |
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Exon skipping events across known transcript of Ensembl for SPG11 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 SPG11 |
| 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 SPG11 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126567 | 15 | 44858414:44858503:44859621:44859790:44861595:44861703 | 44859621:44859790 | ENSG00000104133.10 | ENST00000559347.1,ENST00000559511.1,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126568 | 15 | 44858414:44858503:44859621:44859790:44862722:44862856 | 44859621:44859790 | ENSG00000104133.10 | ENST00000558138.1 |
| exon_skip_126576 | 15 | 44859621:44859790:44861595:44861703:44862722:44862850 | 44861595:44861703 | ENSG00000104133.10 | ENST00000559347.1,ENST00000427534.2,ENST00000559511.1,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126584 | 15 | 44859621:44859790:44862722:44862856:44864880:44865018 | 44862722:44862856 | ENSG00000104133.10 | ENST00000558138.1 |
| exon_skip_126596 | 15 | 44859621:44859790:44864880:44865018:44865744:44865881 | 44864880:44865018 | ENSG00000104133.10 | ENST00000561268.1 |
| exon_skip_126606 | 15 | 44861595:44861703:44862722:44862856:44864880:44865018 | 44862722:44862856 | ENSG00000104133.10 | ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126622 | 15 | 44862750:44862856:44864880:44865018:44865744:44865881 | 44864880:44865018 | ENSG00000104133.10 | ENST00000559933.1,ENST00000427534.2,ENST00000261866.7 |
| exon_skip_126625 | 15 | 44862750:44862856:44864880:44865018:44876011:44876133 | 44864880:44865018 | ENSG00000104133.10 | ENST00000535302.2 |
| exon_skip_126642 | 15 | 44864880:44865018:44865744:44865943:44867099:44867239 | 44865744:44865943 | ENSG00000104133.10 | ENST00000427534.2,ENST00000261866.7 |
| exon_skip_126646 | 15 | 44865931:44865943:44867099:44867239:44876011:44876133 | 44867099:44867239 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000261866.7,ENST00000559822.1 |
| exon_skip_126649 | 15 | 44867099:44867239:44876011:44876133:44876362:44876612 | 44876011:44876133 | ENSG00000104133.10 | ENST00000559822.1 |
| exon_skip_126653 | 15 | 44876456:44876756:44877833:44878048:44881449:44881612 | 44877833:44878048 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126656 | 15 | 44878035:44878048:44880764:44880836:44881449:44881612 | 44880764:44880836 | ENSG00000104133.10 | ENST00000560858.1,ENST00000558790.1 |
| exon_skip_126657 | 15 | 44878035:44878048:44881449:44881612:44882618:44882726 | 44881449:44881612 | ENSG00000104133.10 | ENST00000558253.1 |
| exon_skip_126658 | 15 | 44878035:44878048:44881449:44881612:44884528:44884636 | 44881449:44881612 | ENSG00000104133.10 | ENST00000558319.1,ENST00000558155.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126661 | 15 | 44881449:44881612:44884528:44884636:44887456:44887471 | 44884528:44884636 | ENSG00000104133.10 | ENST00000558319.1,ENST00000560858.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126664 | 15 | 44884528:44884636:44887456:44887657:44888280:44888553 | 44887456:44887657 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126669 | 15 | 44890551:44890571:44890828:44891034:44892664:44892830 | 44890828:44891034 | ENSG00000104133.10 | ENST00000558093.1,ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126673 | 15 | 44892761:44892830:44896302:44896395:44898222:44898289 | 44896302:44896395 | ENSG00000104133.10 | ENST00000559754.1 |
| exon_skip_126675 | 15 | 44892761:44892830:44898222:44898289:44900641:44900803 | 44898222:44898289 | ENSG00000104133.10 | ENST00000558319.1,ENST00000558988.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126678 | 15 | 44900641:44900803:44903037:44903183:44905627:44905734 | 44903037:44903183 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126681 | 15 | 44903037:44903183:44905627:44905734:44907560:44907764 | 44905627:44905734 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126685 | 15 | 44907625:44907764:44912387:44912601:44913956:44914132 | 44912387:44912601 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126688 | 15 | 44912387:44912601:44913956:44914132:44914417:44914545 | 44913956:44914132 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126689 | 15 | 44913956:44914132:44914417:44914545:44914925:44914997 | 44914417:44914545 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000261866.7 |
| exon_skip_126691 | 15 | 44914925:44914997:44918528:44918705:44920866:44921042 | 44918528:44918705 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000559193.1,ENST00000261866.7 |
| exon_skip_126692 | 15 | 44921430:44921586:44925702:44925835:44941063:44941209 | 44925702:44925835 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000535302.2,ENST00000559193.1,ENST00000261866.7 |
| exon_skip_126693 | 15 | 44925702:44925835:44941063:44941209:44943688:44943842 | 44941063:44941209 | ENSG00000104133.10 | ENST00000558319.1,ENST00000427534.2,ENST00000557866.1,ENST00000535302.2,ENST00000559193.1,ENST00000261866.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPG11 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126567 | 15 | 44858414:44858503:44859621:44859790:44861595:44861703 | 44859621:44859790 | ENSG00000104133.10 | ENST00000261866.7,ENST00000559511.1,ENST00000535302.2,ENST00000559347.1 |
| exon_skip_126568 | 15 | 44858414:44858503:44859621:44859790:44862722:44862856 | 44859621:44859790 | ENSG00000104133.10 | ENST00000558138.1 |
| exon_skip_126576 | 15 | 44859621:44859790:44861595:44861703:44862722:44862850 | 44861595:44861703 | ENSG00000104133.10 | ENST00000261866.7,ENST00000559511.1,ENST00000535302.2,ENST00000427534.2,ENST00000559347.1 |
| exon_skip_126584 | 15 | 44859621:44859790:44862722:44862856:44864880:44865018 | 44862722:44862856 | ENSG00000104133.10 | ENST00000558138.1 |
| exon_skip_126596 | 15 | 44859621:44859790:44864880:44865018:44865744:44865881 | 44864880:44865018 | ENSG00000104133.10 | ENST00000561268.1 |
| exon_skip_126606 | 15 | 44861595:44861703:44862722:44862856:44864880:44865018 | 44862722:44862856 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2 |
| exon_skip_126608 | 15 | 44861595:44861703:44862722:44862856:44876011:44876133 | 44862722:44862856 | ENSG00000104133.10 | ENST00000559511.1 |
| exon_skip_126622 | 15 | 44862750:44862856:44864880:44865018:44865744:44865881 | 44864880:44865018 | ENSG00000104133.10 | ENST00000261866.7,ENST00000427534.2,ENST00000559933.1 |
| exon_skip_126625 | 15 | 44862750:44862856:44864880:44865018:44876011:44876133 | 44864880:44865018 | ENSG00000104133.10 | ENST00000535302.2 |
| exon_skip_126642 | 15 | 44864880:44865018:44865744:44865943:44867099:44867239 | 44865744:44865943 | ENSG00000104133.10 | ENST00000261866.7,ENST00000427534.2 |
| exon_skip_126646 | 15 | 44865931:44865943:44867099:44867239:44876011:44876133 | 44867099:44867239 | ENSG00000104133.10 | ENST00000261866.7,ENST00000427534.2,ENST00000558319.1,ENST00000559822.1 |
| exon_skip_126649 | 15 | 44867099:44867239:44876011:44876133:44876362:44876612 | 44876011:44876133 | ENSG00000104133.10 | ENST00000559822.1 |
| exon_skip_126653 | 15 | 44876456:44876756:44877833:44878048:44881449:44881612 | 44877833:44878048 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1 |
| exon_skip_126656 | 15 | 44878035:44878048:44880764:44880836:44881449:44881612 | 44880764:44880836 | ENSG00000104133.10 | ENST00000558790.1,ENST00000560858.1 |
| exon_skip_126657 | 15 | 44878035:44878048:44881449:44881612:44882618:44882726 | 44881449:44881612 | ENSG00000104133.10 | ENST00000558253.1 |
| exon_skip_126658 | 15 | 44878035:44878048:44881449:44881612:44884528:44884636 | 44881449:44881612 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1,ENST00000558155.1 |
| exon_skip_126664 | 15 | 44884528:44884636:44887456:44887657:44888280:44888553 | 44887456:44887657 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1 |
| exon_skip_126669 | 15 | 44890551:44890571:44890828:44891034:44892664:44892830 | 44890828:44891034 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1,ENST00000558093.1 |
| exon_skip_126673 | 15 | 44892761:44892830:44896302:44896395:44898222:44898289 | 44896302:44896395 | ENSG00000104133.10 | ENST00000559754.1 |
| exon_skip_126675 | 15 | 44892761:44892830:44898222:44898289:44900641:44900803 | 44898222:44898289 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1,ENST00000558988.1 |
| exon_skip_126678 | 15 | 44900641:44900803:44903037:44903183:44905627:44905734 | 44903037:44903183 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1 |
| exon_skip_126681 | 15 | 44903037:44903183:44905627:44905734:44907560:44907764 | 44905627:44905734 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1 |
| exon_skip_126685 | 15 | 44907625:44907764:44912387:44912601:44913956:44914132 | 44912387:44912601 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1 |
| exon_skip_126688 | 15 | 44912387:44912601:44913956:44914132:44914417:44914545 | 44913956:44914132 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1 |
| exon_skip_126689 | 15 | 44913956:44914132:44914417:44914545:44914925:44914997 | 44914417:44914545 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1 |
| exon_skip_126691 | 15 | 44914925:44914997:44918528:44918705:44920866:44921042 | 44918528:44918705 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1,ENST00000559193.1 |
| exon_skip_126692 | 15 | 44921430:44921586:44925702:44925835:44941063:44941209 | 44925702:44925835 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1,ENST00000559193.1 |
| exon_skip_126693 | 15 | 44925702:44925835:44941063:44941209:44943688:44943842 | 44941063:44941209 | ENSG00000104133.10 | ENST00000261866.7,ENST00000535302.2,ENST00000427534.2,ENST00000558319.1,ENST00000559193.1,ENST00000557866.1 |
| 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 SPG11 |
| 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 |
| ENST00000261866 | 44859621 | 44859790 | Frame-shift |
| ENST00000261866 | 44862722 | 44862856 | Frame-shift |
| ENST00000261866 | 44865744 | 44865943 | Frame-shift |
| ENST00000261866 | 44867099 | 44867239 | Frame-shift |
| ENST00000261866 | 44877833 | 44878048 | Frame-shift |
| ENST00000261866 | 44881449 | 44881612 | Frame-shift |
| ENST00000261866 | 44890828 | 44891034 | Frame-shift |
| ENST00000261866 | 44898222 | 44898289 | Frame-shift |
| ENST00000261866 | 44903037 | 44903183 | Frame-shift |
| ENST00000261866 | 44905627 | 44905734 | Frame-shift |
| ENST00000261866 | 44912387 | 44912601 | Frame-shift |
| ENST00000261866 | 44913956 | 44914132 | Frame-shift |
| ENST00000261866 | 44914417 | 44914545 | Frame-shift |
| ENST00000261866 | 44925702 | 44925835 | Frame-shift |
| ENST00000261866 | 44941063 | 44941209 | Frame-shift |
| ENST00000261866 | 44861595 | 44861703 | In-frame |
| ENST00000261866 | 44864880 | 44865018 | In-frame |
| ENST00000261866 | 44884528 | 44884636 | In-frame |
| ENST00000261866 | 44887456 | 44887657 | In-frame |
| ENST00000261866 | 44918528 | 44918705 | 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 |
| ENST00000261866 | 44859621 | 44859790 | Frame-shift |
| ENST00000261866 | 44862722 | 44862856 | Frame-shift |
| ENST00000261866 | 44865744 | 44865943 | Frame-shift |
| ENST00000261866 | 44867099 | 44867239 | Frame-shift |
| ENST00000261866 | 44877833 | 44878048 | Frame-shift |
| ENST00000261866 | 44881449 | 44881612 | Frame-shift |
| ENST00000261866 | 44890828 | 44891034 | Frame-shift |
| ENST00000261866 | 44898222 | 44898289 | Frame-shift |
| ENST00000261866 | 44903037 | 44903183 | Frame-shift |
| ENST00000261866 | 44905627 | 44905734 | Frame-shift |
| ENST00000261866 | 44912387 | 44912601 | Frame-shift |
| ENST00000261866 | 44913956 | 44914132 | Frame-shift |
| ENST00000261866 | 44914417 | 44914545 | Frame-shift |
| ENST00000261866 | 44925702 | 44925835 | Frame-shift |
| ENST00000261866 | 44941063 | 44941209 | Frame-shift |
| ENST00000261866 | 44861595 | 44861703 | In-frame |
| ENST00000261866 | 44864880 | 44865018 | In-frame |
| ENST00000261866 | 44887456 | 44887657 | In-frame |
| ENST00000261866 | 44918528 | 44918705 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPG11 |
| 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 |
| ENST00000261866 | 7791 | 2443 | 44918528 | 44918705 | 2085 | 2261 | 689 | 748 |
| ENST00000261866 | 7791 | 2443 | 44887456 | 44887657 | 4452 | 4652 | 1478 | 1545 |
| ENST00000261866 | 7791 | 2443 | 44884528 | 44884636 | 4653 | 4760 | 1545 | 1581 |
| ENST00000261866 | 7791 | 2443 | 44864880 | 44865018 | 6223 | 6360 | 2068 | 2114 |
| ENST00000261866 | 7791 | 2443 | 44861595 | 44861703 | 6495 | 6602 | 2159 | 2195 |
| 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 |
| ENST00000261866 | 7791 | 2443 | 44918528 | 44918705 | 2085 | 2261 | 689 | 748 |
| ENST00000261866 | 7791 | 2443 | 44887456 | 44887657 | 4452 | 4652 | 1478 | 1545 |
| ENST00000261866 | 7791 | 2443 | 44864880 | 44865018 | 6223 | 6360 | 2068 | 2114 |
| ENST00000261866 | 7791 | 2443 | 44861595 | 44861703 | 6495 | 6602 | 2159 | 2195 |
| 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 |
| 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 |
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SNVs in the skipped exons for SPG11 |
| - 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-A3A0-01 | exon_skip_126567 exon_skip_126568 | 44859622 | 44859790 | 44859626 | 44859626 | Frame_Shift_Del | G | - | p.P2250fs |
| ESCA | TCGA-VR-A8EY-01 | exon_skip_126584 exon_skip_126606 | 44862723 | 44862856 | 44862814 | 44862815 | Frame_Shift_Del | GT | - | p.T2129fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_126596 exon_skip_126622 exon_skip_126625 | 44864881 | 44865018 | 44864925 | 44864925 | Frame_Shift_Del | A | - | p.L2101fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_126649 | 44876012 | 44876133 | 44876117 | 44876117 | Frame_Shift_Del | C | - | p.E1921fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_126681 | 44905628 | 44905734 | 44905698 | 44905698 | Frame_Shift_Del | T | - | p.K1025fs |
| PAAD | TCGA-IB-7890-01 | exon_skip_126681 | 44905628 | 44905734 | 44905698 | 44905698 | Frame_Shift_Del | T | - | p.K1025fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_126685 | 44912388 | 44912601 | 44912467 | 44912467 | Frame_Shift_Del | G | - | p.L920fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_126689 | 44914418 | 44914545 | 44914460 | 44914460 | Frame_Shift_Del | A | - | p.L801fs |
| HNSC | TCGA-D6-6516-01 | exon_skip_126691 | 44918529 | 44918705 | 44918568 | 44918568 | Frame_Shift_Del | C | - | p.K735fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_126692 | 44925703 | 44925835 | 44925792 | 44925792 | Frame_Shift_Del | A | - | p.L549fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_126692 | 44925703 | 44925835 | 44925801 | 44925801 | Frame_Shift_Del | T | - | p.N546fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_126693 | 44941064 | 44941209 | 44941095 | 44941095 | Frame_Shift_Del | C | - | p.G524fs |
| HNSC | TCGA-CV-7253-01 | exon_skip_126693 | 44941064 | 44941209 | 44941194 | 44941195 | Frame_Shift_Del | AG | - | p.L491fs |
| ESCA | TCGA-LN-A4A2-01 | exon_skip_126681 | 44905628 | 44905734 | 44905697 | 44905698 | Frame_Shift_Ins | - | T | p.E1025fs |
| STAD | TCGA-BR-8361-01 | exon_skip_126681 | 44905628 | 44905734 | 44905697 | 44905698 | Frame_Shift_Ins | - | T | p.E1026fs |
| STAD | TCGA-BR-8361-01 | exon_skip_126681 | 44905628 | 44905734 | 44905698 | 44905699 | Frame_Shift_Ins | - | T | p.K1025fs |
| THCA | TCGA-EL-A3ZO-01 | exon_skip_126596 exon_skip_126622 exon_skip_126625 | 44864881 | 44865018 | 44864971 | 44864971 | Nonsense_Mutation | G | A | p.Q2085* |
| SKCM | TCGA-EE-A3AG-06 | exon_skip_126642 | 44865745 | 44865943 | 44865754 | 44865754 | Nonsense_Mutation | G | A | p.Q2066* |
| LUAD | TCGA-49-6743-01 | exon_skip_126642 | 44865745 | 44865943 | 44865871 | 44865871 | Nonsense_Mutation | G | A | p.Q2027* |
| LUSC | TCGA-33-4566-01 | exon_skip_126669 | 44890829 | 44891034 | 44890865 | 44890865 | Nonsense_Mutation | C | A | p.E1286* |
| LUAD | TCGA-17-Z030-01 | exon_skip_126678 | 44903038 | 44903183 | 44903124 | 44903124 | Nonsense_Mutation | G | A | p.Q1069* |
| STAD | TCGA-BR-7722-01 | exon_skip_126688 | 44913957 | 44914132 | 44913993 | 44913993 | Nonsense_Mutation | G | A | p.Q862* |
| STAD | TCGA-BR-7722-01 | exon_skip_126688 | 44913957 | 44914132 | 44913993 | 44913993 | Nonsense_Mutation | G | A | p.Q862X |
| LUAD | TCGA-05-4402-01 | exon_skip_126689 | 44914418 | 44914545 | 44914530 | 44914530 | Nonsense_Mutation | C | A | p.E778* |
| SARC | TCGA-QQ-A5VD-01 | exon_skip_126692 | 44925703 | 44925835 | 44925817 | 44925817 | Nonsense_Mutation | G | A | p.Q541* |
| UCEC | TCGA-E6-A1LZ-01 | exon_skip_126692 | 44925703 | 44925835 | 44925826 | 44925826 | Nonsense_Mutation | C | A | p.E538* |
| READ | TCGA-AG-A002-01 | exon_skip_126693 | 44941064 | 44941209 | 44941171 | 44941171 | Nonsense_Mutation | C | A | p.E499X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_126653 | 44877834 | 44878048 | 44878049 | 44878049 | Splice_Site | C | A | e29-1 |
| BRCA | TCGA-BH-A0AV-01 | exon_skip_126681 | 44905628 | 44905734 | 44905735 | 44905735 | Splice_Site | C | A | e17-1 |
| ACC | TCGA-PK-A5HB-01 | exon_skip_126691 | 44918529 | 44918705 | 44918706 | 44918706 | Splice_Site | C | T | . |
| COAD | TCGA-CA-6717-01 | exon_skip_126693 | 44941064 | 44941209 | 44941210 | 44941210 | Splice_Site | C | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EL-A3ZO-01 |
| Cancer type: THCA | |
| ESID: exon_skip_126625 | |
| Skipped exon start: 44864881 | |
| Skipped exon end: 44865018 | |
| Mutation start: 44864971 | |
| Mutation end: 44864971 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q2085* | |
exon_skip_126596_THCA_TCGA-EL-A3ZO-01.png | |
exon_skip_126622_THCA_TCGA-EL-A3ZO-01.png | |
 | Sample: TCGA-EL-A3ZO-01 |
| Cancer type: THCA | |
| ESID: exon_skip_126625 | |
| Skipped exon start: 44864881 | |
| Skipped exon end: 44865018 | |
| Mutation start: 44864971 | |
| Mutation end: 44864971 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q2085* | |
| exon_skip_126596_THCA_TCGA-EL-A3ZO-01.png | |
| exon_skip_126622_THCA_TCGA-EL-A3ZO-01.png | |
 | Sample: TCGA-VR-A8EY-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_126606 | |
| Skipped exon start: 44862723 | |
| Skipped exon end: 44862856 | |
| Mutation start: 44862814 | |
| Mutation end: 44862815 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GT | |
| Mutation seq: - | |
| AAchange: p.T2129fs | |
exon_skip_124728_ESCA_TCGA-VR-A8EY-01.png | |
exon_skip_126584_ESCA_TCGA-VR-A8EY-01.png | |
exon_skip_286384_ESCA_TCGA-VR-A8EY-01.png | |
exon_skip_323786_ESCA_TCGA-VR-A8EY-01.png | |
exon_skip_323787_ESCA_TCGA-VR-A8EY-01.png | |
exon_skip_423700_ESCA_TCGA-VR-A8EY-01.png | |
exon_skip_423701_ESCA_TCGA-VR-A8EY-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 |
| SW756_CERVIX | 44876012 | 44876133 | 44876034 | 44876034 | Frame_Shift_Del | A | - | p.I1948fs |
| EN_ENDOMETRIUM | 44861596 | 44861703 | 44861635 | 44861636 | Frame_Shift_Ins | - | T | p.K2182fs |
| IM95_STOMACH | 44905628 | 44905734 | 44905697 | 44905698 | Frame_Shift_Ins | - | T | p.E1026fs |
| HEC108_ENDOMETRIUM | 44905628 | 44905734 | 44905697 | 44905698 | Frame_Shift_Ins | - | T | p.E1026fs |
| SKN_ENDOMETRIUM | 44859622 | 44859790 | 44859639 | 44859639 | Missense_Mutation | A | G | p.I2246T |
| HT115_LARGE_INTESTINE | 44859622 | 44859790 | 44859657 | 44859657 | Missense_Mutation | C | T | p.R2240H |
| MDAMB453_BREAST | 44859622 | 44859790 | 44859673 | 44859673 | Missense_Mutation | G | A | p.H2235Y |
| HEC151_ENDOMETRIUM | 44861596 | 44861703 | 44861643 | 44861643 | Missense_Mutation | G | A | p.H2180Y |
| HEC108_ENDOMETRIUM | 44861596 | 44861703 | 44861661 | 44861661 | Missense_Mutation | A | G | p.Y2174H |
| HEC108_ENDOMETRIUM | 44861596 | 44861703 | 44861688 | 44861688 | Missense_Mutation | C | A | p.G2165C |
| COLO829_MATCHED_NORMAL_TISSUE | 44862723 | 44862856 | 44862740 | 44862740 | Missense_Mutation | C | T | p.E2154K |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44864881 | 44865018 | 44864931 | 44864931 | Missense_Mutation | A | G | p.M2098T |
| MZ7MEL_SKIN | 44864881 | 44865018 | 44864965 | 44864966 | Missense_Mutation | TC | CA | p.T2087A |
| RL952_ENDOMETRIUM | 44865745 | 44865943 | 44865774 | 44865774 | Missense_Mutation | C | T | p.R2059Q |
| 201T_LUNG | 44867100 | 44867239 | 44867137 | 44867137 | Missense_Mutation | T | C | p.Y1990C |
| DM3_FIBROBLAST | 44876012 | 44876133 | 44876083 | 44876083 | Missense_Mutation | T | C | p.H1932R |
| SNU1040_LARGE_INTESTINE | 44877834 | 44878048 | 44877961 | 44877961 | Missense_Mutation | C | T | p.S1665N |
| HDQP1_BREAST | 44877834 | 44878048 | 44877985 | 44877985 | Missense_Mutation | T | C | p.N1657S |
| P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44877834 | 44878048 | 44877989 | 44877989 | Missense_Mutation | T | C | p.I1656V |
| CHP134_AUTONOMIC_GANGLIA | 44881450 | 44881612 | 44881464 | 44881464 | Missense_Mutation | T | C | p.H1631R |
| SNU489_CENTRAL_NERVOUS_SYSTEM | 44881450 | 44881612 | 44881468 | 44881468 | Missense_Mutation | C | G | p.E1630Q |
| MDAMB415_BREAST | 44881450 | 44881612 | 44881474 | 44881474 | Missense_Mutation | C | T | p.E1628K |
| SNU503_LARGE_INTESTINE | 44881450 | 44881612 | 44881508 | 44881508 | Missense_Mutation | C | A | p.Q1616H |
| RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44881450 | 44881612 | 44881608 | 44881608 | Missense_Mutation | T | A | p.N1583I |
| EVSAT_BREAST | 44884529 | 44884636 | 44884612 | 44884612 | Missense_Mutation | C | G | p.E1554Q |
| MS751_CERVIX | 44884529 | 44884636 | 44884629 | 44884629 | Missense_Mutation | G | A | p.P1548L |
| HCC2998_LARGE_INTESTINE | 44887457 | 44887657 | 44887499 | 44887499 | Missense_Mutation | T | G | p.Q1531H |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44887457 | 44887657 | 44887500 | 44887500 | Missense_Mutation | T | G | p.Q1531P |
| U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44887457 | 44887657 | 44887500 | 44887500 | Missense_Mutation | T | G | p.Q1531P |
| SNU1040_LARGE_INTESTINE | 44903038 | 44903183 | 44903069 | 44903069 | Missense_Mutation | G | A | p.T1087I |
| KON_UPPER_AERODIGESTIVE_TRACT | 44903038 | 44903183 | 44903117 | 44903117 | Missense_Mutation | C | G | p.S1071T |
| EW18_BONE | 44903038 | 44903183 | 44903157 | 44903157 | Missense_Mutation | G | A | p.L1058F |
| NCIH2029_LUNG | 44905628 | 44905734 | 44905661 | 44905661 | Missense_Mutation | C | A | p.V1038F |
| HS737T_FIBROBLAST | 44905628 | 44905734 | 44905675 | 44905675 | Missense_Mutation | C | A | p.W1033L |
| JHUEM7_ENDOMETRIUM | 44905628 | 44905734 | 44905681 | 44905681 | Missense_Mutation | T | C | p.H1031R |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44905628 | 44905734 | 44905706 | 44905706 | Missense_Mutation | C | T | p.E1023K |
| GP2D_LARGE_INTESTINE | 44905628 | 44905734 | 44905706 | 44905706 | Missense_Mutation | C | T | p.E1023K |
| GP5D_LARGE_INTESTINE | 44905628 | 44905734 | 44905706 | 44905706 | Missense_Mutation | C | T | p.E1023K |
| NCIH1869_LUNG | 44913957 | 44914132 | 44914016 | 44914016 | Missense_Mutation | G | A | p.A854V |
| HCT15_LARGE_INTESTINE | 44913957 | 44914132 | 44914068 | 44914068 | Missense_Mutation | C | T | p.D837N |
| SAS_UPPER_AERODIGESTIVE_TRACT | 44914418 | 44914545 | 44914440 | 44914440 | Missense_Mutation | T | G | p.M808L |
| CAL51_BREAST | 44918529 | 44918705 | 44918663 | 44918663 | Missense_Mutation | C | T | p.A704T |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44941064 | 44941209 | 44941182 | 44941182 | Missense_Mutation | C | T | p.G495D |
| CW2_LARGE_INTESTINE | 44941064 | 44941209 | 44941204 | 44941204 | Missense_Mutation | C | T | p.G488R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44913957 | 44914132 | 44914127 | 44914127 | Nonsense_Mutation | C | T | p.W817* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPG11 |
| 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 SPG11 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPG11 |
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RelatedDrugs for SPG11 |
| 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 SPG11 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SPG11 | C1858479 | Spastic paraplegia 11, autosomal recessive | 1 | CTD_human;ORPHANET;UNIPROT |
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