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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 TEP1 |
 Gene summary |
| Gene information | Gene symbol | TEP1 | Gene ID | 7011 |
| Gene name | telomerase associated protein 1 | |
| Synonyms | TLP1|TP1|TROVE1|VAULT2|p240 | |
| Cytomap | 14q11.2 | |
| Type of gene | protein-coding | |
| Description | telomerase protein component 1TROVE domain family, member 1p80 telomerase homologtelomerase protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q99973 | |
| Context | PubMed: TEP1 [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 |
| TEP1 | GO:0000722 | telomere maintenance via recombination | 10810353 |
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Exon skipping events across known transcript of Ensembl for TEP1 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 TEP1 |
| 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 TEP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110959 | 14 | 20839676:20839791:20840891:20841016:20841169:20841239 | 20840891:20841016 | ENSG00000129566.8 | ENST00000262715.5,ENST00000556935.1,ENST00000555008.1,ENST00000555727.1 |
| exon_skip_110961 | 14 | 20841942:20841969:20842587:20842695:20843913:20844027 | 20842587:20842695 | ENSG00000129566.8 | ENST00000545983.1,ENST00000262715.5,ENST00000556935.1,ENST00000557314.1,ENST00000556488.1,ENST00000555008.1,ENST00000471684.2,ENST00000555727.1 |
| exon_skip_110963 | 14 | 20844262:20844423:20845438:20845517:20845583:20845651 | 20845438:20845517 | ENSG00000129566.8 | ENST00000471684.2 |
| exon_skip_110964 | 14 | 20845758:20845912:20846182:20846395:20846538:20846694 | 20846182:20846395 | ENSG00000129566.8 | ENST00000545983.1,ENST00000262715.5,ENST00000556935.1,ENST00000557314.1,ENST00000555008.1,ENST00000555727.1 |
| exon_skip_110965 | 14 | 20846538:20846694:20846912:20847012:20847139:20847264 | 20846912:20847012 | ENSG00000129566.8 | ENST00000545983.1,ENST00000262715.5,ENST00000556935.1,ENST00000557314.1,ENST00000555008.1,ENST00000555727.1 |
| exon_skip_110966 | 14 | 20847139:20847264:20848088:20848212:20848393:20848634 | 20848088:20848212 | ENSG00000129566.8 | ENST00000545983.1,ENST00000262715.5,ENST00000556935.1,ENST00000557314.1,ENST00000555008.1,ENST00000555727.1 |
| exon_skip_110968 | 14 | 20849471:20849560:20849711:20849845:20850071:20850205 | 20849711:20849845 | ENSG00000129566.8 | ENST00000262715.5,ENST00000556935.1,ENST00000555008.1 |
| exon_skip_110972 | 14 | 20852196:20852391:20852549:20852667:20852758:20852872 | 20852549:20852667 | ENSG00000129566.8 | ENST00000262715.5,ENST00000556935.1,ENST00000555008.1,ENST00000555727.1 |
| exon_skip_110974 | 14 | 20854605:20854782:20856063:20856222:20857396:20857456 | 20856063:20856222 | ENSG00000129566.8 | ENST00000262715.5,ENST00000556935.1,ENST00000555008.1,ENST00000555727.1 |
| exon_skip_110975 | 14 | 20857396:20857456:20857768:20857899:20858839:20858917 | 20857768:20857899 | ENSG00000129566.8 | ENST00000262715.5,ENST00000556935.1,ENST00000555008.1,ENST00000555727.1 |
| exon_skip_110979 | 14 | 20864779:20864889:20869142:20869300:20869615:20869740 | 20869142:20869300 | ENSG00000129566.8 | ENST00000262715.5,ENST00000556935.1,ENST00000555727.1 |
| exon_skip_110982 | 14 | 20871881:20872043:20872769:20872931:20873609:20873744 | 20872769:20872931 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555727.1 |
| exon_skip_110986 | 14 | 20873609:20873744:20874391:20874559:20876031:20876622 | 20874391:20874559 | ENSG00000129566.8 | ENST00000262715.5,ENST00000556935.1,ENST00000555727.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TEP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110959 | 14 | 20839676:20839791:20840891:20841016:20841169:20841239 | 20840891:20841016 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555008.1,ENST00000555727.1,ENST00000556935.1 |
| exon_skip_110961 | 14 | 20841942:20841969:20842587:20842695:20843913:20844027 | 20842587:20842695 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555008.1,ENST00000555727.1,ENST00000556935.1,ENST00000557314.1,ENST00000545983.1,ENST00000556488.1,ENST00000471684.2 |
| exon_skip_110963 | 14 | 20844262:20844423:20845438:20845517:20845583:20845651 | 20845438:20845517 | ENSG00000129566.8 | ENST00000471684.2 |
| exon_skip_110964 | 14 | 20845758:20845912:20846182:20846395:20846538:20846694 | 20846182:20846395 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555008.1,ENST00000555727.1,ENST00000556935.1,ENST00000557314.1,ENST00000545983.1 |
| exon_skip_110965 | 14 | 20846538:20846694:20846912:20847012:20847139:20847264 | 20846912:20847012 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555008.1,ENST00000555727.1,ENST00000556935.1,ENST00000557314.1,ENST00000545983.1 |
| exon_skip_110966 | 14 | 20847139:20847264:20848088:20848212:20848393:20848634 | 20848088:20848212 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555008.1,ENST00000555727.1,ENST00000556935.1,ENST00000557314.1,ENST00000545983.1 |
| exon_skip_110968 | 14 | 20849471:20849560:20849711:20849845:20850071:20850205 | 20849711:20849845 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555008.1,ENST00000556935.1 |
| exon_skip_110972 | 14 | 20852196:20852391:20852549:20852667:20852758:20852872 | 20852549:20852667 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555008.1,ENST00000555727.1,ENST00000556935.1 |
| exon_skip_110974 | 14 | 20854605:20854782:20856063:20856222:20857396:20857456 | 20856063:20856222 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555008.1,ENST00000555727.1,ENST00000556935.1 |
| exon_skip_110975 | 14 | 20857396:20857456:20857768:20857899:20858839:20858917 | 20857768:20857899 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555008.1,ENST00000555727.1,ENST00000556935.1 |
| exon_skip_110979 | 14 | 20864779:20864889:20869142:20869300:20869615:20869740 | 20869142:20869300 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555727.1,ENST00000556935.1 |
| exon_skip_110982 | 14 | 20871881:20872043:20872769:20872931:20873609:20873744 | 20872769:20872931 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555727.1 |
| exon_skip_110986 | 14 | 20873609:20873744:20874391:20874559:20876031:20876622 | 20874391:20874559 | ENSG00000129566.8 | ENST00000262715.5,ENST00000555727.1,ENST00000556935.1 |
| 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 TEP1 |
| 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 |
| ENST00000262715 | 20840891 | 20841016 | Frame-shift |
| ENST00000262715 | 20846912 | 20847012 | Frame-shift |
| ENST00000262715 | 20848088 | 20848212 | Frame-shift |
| ENST00000262715 | 20849711 | 20849845 | Frame-shift |
| ENST00000262715 | 20852549 | 20852667 | Frame-shift |
| ENST00000262715 | 20857768 | 20857899 | Frame-shift |
| ENST00000262715 | 20869142 | 20869300 | Frame-shift |
| ENST00000262715 | 20842587 | 20842695 | In-frame |
| ENST00000262715 | 20846182 | 20846395 | In-frame |
| ENST00000262715 | 20856063 | 20856222 | In-frame |
| ENST00000262715 | 20872769 | 20872931 | In-frame |
| ENST00000262715 | 20874391 | 20874559 | 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 |
| ENST00000262715 | 20840891 | 20841016 | Frame-shift |
| ENST00000262715 | 20846912 | 20847012 | Frame-shift |
| ENST00000262715 | 20848088 | 20848212 | Frame-shift |
| ENST00000262715 | 20849711 | 20849845 | Frame-shift |
| ENST00000262715 | 20852549 | 20852667 | Frame-shift |
| ENST00000262715 | 20857768 | 20857899 | Frame-shift |
| ENST00000262715 | 20869142 | 20869300 | Frame-shift |
| ENST00000262715 | 20842587 | 20842695 | In-frame |
| ENST00000262715 | 20846182 | 20846395 | In-frame |
| ENST00000262715 | 20856063 | 20856222 | In-frame |
| ENST00000262715 | 20872769 | 20872931 | In-frame |
| ENST00000262715 | 20874391 | 20874559 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TEP1 |
| 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 |
| ENST00000262715 | 10712 | 2627 | 20874391 | 20874559 | 609 | 776 | 189 | 245 |
| ENST00000262715 | 10712 | 2627 | 20872769 | 20872931 | 912 | 1073 | 290 | 344 |
| ENST00000262715 | 10712 | 2627 | 20856063 | 20856222 | 2567 | 2725 | 842 | 894 |
| ENST00000262715 | 10712 | 2627 | 20846182 | 20846395 | 5550 | 5762 | 1836 | 1907 |
| ENST00000262715 | 10712 | 2627 | 20842587 | 20842695 | 6405 | 6512 | 2121 | 2157 |
| 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 |
| ENST00000262715 | 10712 | 2627 | 20874391 | 20874559 | 609 | 776 | 189 | 245 |
| ENST00000262715 | 10712 | 2627 | 20872769 | 20872931 | 912 | 1073 | 290 | 344 |
| ENST00000262715 | 10712 | 2627 | 20856063 | 20856222 | 2567 | 2725 | 842 | 894 |
| ENST00000262715 | 10712 | 2627 | 20846182 | 20846395 | 5550 | 5762 | 1836 | 1907 |
| ENST00000262715 | 10712 | 2627 | 20842587 | 20842695 | 6405 | 6512 | 2121 | 2157 |
| 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 |
| Q99973 | 189 | 245 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 189 | 245 | 223 | 676 | Domain | Note=TROVE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00343 |
| Q99973 | 290 | 344 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 290 | 344 | 223 | 676 | Domain | Note=TROVE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00343 |
| Q99973 | 290 | 344 | 307 | 307 | Natural variant | ID=VAR_018491;Note=N->K;Dbxref=dbSNP:rs1760898 |
| Q99973 | 842 | 894 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 1836 | 1907 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 1836 | 1907 | 1798 | 1837 | Repeat | Note=WD 5 |
| Q99973 | 1836 | 1907 | 1840 | 1879 | Repeat | Note=WD 6 |
| Q99973 | 1836 | 1907 | 1882 | 1921 | Repeat | Note=WD 7 |
| Q99973 | 2121 | 2157 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 2121 | 2157 | 2105 | 2143 | Repeat | Note=WD 12 |
| Q99973 | 2121 | 2157 | 2146 | 2183 | Repeat | Note=WD 13 |
| 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 |
| Q99973 | 189 | 245 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 189 | 245 | 223 | 676 | Domain | Note=TROVE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00343 |
| Q99973 | 290 | 344 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 290 | 344 | 223 | 676 | Domain | Note=TROVE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00343 |
| Q99973 | 290 | 344 | 307 | 307 | Natural variant | ID=VAR_018491;Note=N->K;Dbxref=dbSNP:rs1760898 |
| Q99973 | 842 | 894 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 1836 | 1907 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 1836 | 1907 | 1798 | 1837 | Repeat | Note=WD 5 |
| Q99973 | 1836 | 1907 | 1840 | 1879 | Repeat | Note=WD 6 |
| Q99973 | 1836 | 1907 | 1882 | 1921 | Repeat | Note=WD 7 |
| Q99973 | 2121 | 2157 | 1 | 2627 | Chain | ID=PRO_0000050982;Note=Telomerase protein component 1 |
| Q99973 | 2121 | 2157 | 2105 | 2143 | Repeat | Note=WD 12 |
| Q99973 | 2121 | 2157 | 2146 | 2183 | Repeat | Note=WD 13 |
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SNVs in the skipped exons for TEP1 |
| - 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. |
TEP1_COAD_exon_skip_110964_psi_boxplot.png |
TEP1_KIRC_exon_skip_110964_psi_boxplot.png |
TEP1_LUAD_exon_skip_110964_psi_boxplot.png |
| - 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-G3-A3CJ-01 | exon_skip_110964 | 20846183 | 20846395 | 20846332 | 20846332 | Frame_Shift_Del | C | - | p.A1858fs |
| COAD | TCGA-AA-3663-01 | exon_skip_110964 | 20846183 | 20846395 | 20846338 | 20846338 | Frame_Shift_Del | C | - | p.V1856fs |
| COAD | TCGA-AU-6004-01 | exon_skip_110964 | 20846183 | 20846395 | 20846338 | 20846338 | Frame_Shift_Del | C | - | p.V1856fs |
| COAD | TCGA-AY-6197-01 | exon_skip_110964 | 20846183 | 20846395 | 20846338 | 20846338 | Frame_Shift_Del | C | - | p.V1856fs |
| COAD | TCGA-CM-6171-01 | exon_skip_110964 | 20846183 | 20846395 | 20846338 | 20846338 | Frame_Shift_Del | C | - | p.V1856fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_110964 | 20846183 | 20846395 | 20846338 | 20846338 | Frame_Shift_Del | C | - | p.V1857fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_110964 | 20846183 | 20846395 | 20846338 | 20846338 | Frame_Shift_Del | C | - | p.V1856fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_110964 | 20846183 | 20846395 | 20846338 | 20846338 | Frame_Shift_Del | C | - | p.V1857fs |
| STAD | TCGA-CG-4306-01 | exon_skip_110964 | 20846183 | 20846395 | 20846338 | 20846338 | Frame_Shift_Del | C | - | p.V1856fs |
| STAD | TCGA-CG-5733-01 | exon_skip_110964 | 20846183 | 20846395 | 20846338 | 20846338 | Frame_Shift_Del | C | - | p.V1856fs |
| COAD | TCGA-G4-6628-01 | exon_skip_110972 | 20852550 | 20852667 | 20852647 | 20852647 | Frame_Shift_Del | C | - | p.G1081fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_110972 | 20852550 | 20852667 | 20852647 | 20852647 | Frame_Shift_Del | C | - | p.G1081fs |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_110972 | 20852550 | 20852667 | 20852647 | 20852647 | Frame_Shift_Del | C | - | p.G1081fs |
| ACC | TCGA-OR-A5L2-01 | exon_skip_110979 | 20869143 | 20869300 | 20869174 | 20869174 | Frame_Shift_Del | C | - | p.G506fs |
| ACC | TCGA-OR-A5L2-01 | exon_skip_110979 | 20869143 | 20869300 | 20869174 | 20869174 | Frame_Shift_Del | C | - | p.N507fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_110982 | 20872770 | 20872931 | 20872861 | 20872861 | Frame_Shift_Del | A | - | p.F314fs |
| KIRC | TCGA-A3-3313-01 | exon_skip_110964 | 20846183 | 20846395 | 20846337 | 20846338 | Frame_Shift_Ins | - | C | p.C1856fs |
| KIRC | TCGA-A3-3382-01 | exon_skip_110964 | 20846183 | 20846395 | 20846337 | 20846338 | Frame_Shift_Ins | - | C | p.C1856fs |
| KIRC | TCGA-AK-3465-01 | exon_skip_110964 | 20846183 | 20846395 | 20846337 | 20846338 | Frame_Shift_Ins | - | C | p.C1856fs |
| LUAD | TCGA-44-2659-01 | exon_skip_110964 | 20846183 | 20846395 | 20846337 | 20846338 | Frame_Shift_Ins | - | C | p.C1856fs |
| COAD | TCGA-A6-5665-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| COAD | TCGA-AA-A00J-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| KIRC | TCGA-A3-3365-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| KIRC | TCGA-A3-3380-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| KIRC | TCGA-A3-3382-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| KIRC | TCGA-AK-3465-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| LUAD | TCGA-44-2659-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| LUAD | TCGA-44-2666-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| LUAD | TCGA-64-1678-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| LUAD | TCGA-67-3771-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| LUAD | TCGA-67-3774-01 | exon_skip_110972 | 20852550 | 20852667 | 20852646 | 20852647 | Frame_Shift_Ins | - | C | p.G1081fs |
| LUAD | TCGA-55-7907-01 | exon_skip_110968 | 20849712 | 20849845 | 20849739 | 20849739 | Nonsense_Mutation | C | A | p.E1511* |
| SKCM | TCGA-EB-A41A-01 | exon_skip_110974 | 20856064 | 20856222 | 20856071 | 20856071 | Nonsense_Mutation | G | A | p.Q893* |
| SKCM | TCGA-EB-A41A-01 | exon_skip_110974 | 20856064 | 20856222 | 20856071 | 20856071 | Nonsense_Mutation | G | A | p.Q893X |
| LUAD | TCGA-86-8073-01 | exon_skip_110974 | 20856064 | 20856222 | 20856104 | 20856104 | Nonsense_Mutation | C | A | p.E882* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_110986 | 20874392 | 20874559 | 20874523 | 20874523 | Nonsense_Mutation | C | A | p.E202* |
| LUAD | TCGA-55-1594-01 | exon_skip_110964 | 20846183 | 20846395 | 20846397 | 20846397 | Splice_Site | T | A | p.D1837_splice |
| BLCA | TCGA-G2-A2ES-01 | exon_skip_110966 | 20848089 | 20848212 | 20848088 | 20848088 | Splice_Site | C | A | p.Q1709_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-55-1594-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_110964 | |
| Skipped exon start: 20846183 | |
| Skipped exon end: 20846395 | |
| Mutation start: 20846397 | |
| Mutation end: 20846397 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: p.D1837_splice | |
exon_skip_109033_LUAD_TCGA-55-1594-01.png | |
exon_skip_110964_LUAD_TCGA-55-1594-01.png | |
exon_skip_38384_LUAD_TCGA-55-1594-01.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 |
| OVK18_OVARY | 20846183 | 20846395 | 20846229 | 20846229 | Frame_Shift_Del | A | - | p.F1892fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20849712 | 20849845 | 20849795 | 20849795 | Frame_Shift_Del | G | - | p.P1492fs |
| SNU1_STOMACH | 20852550 | 20852667 | 20852647 | 20852647 | Frame_Shift_Del | C | - | p.G1081fs |
| SKMEL30_SKIN | 20840892 | 20841016 | 20840965 | 20840966 | Frame_Shift_Ins | - | A | p.V2335fs |
| TCYIK_CERVIX | 20840892 | 20841016 | 20840910 | 20840910 | Missense_Mutation | G | A | p.S2353L |
| SNUC2A_LARGE_INTESTINE | 20840892 | 20841016 | 20840919 | 20840919 | Missense_Mutation | C | T | p.R2350Q |
| SNUC2B_LARGE_INTESTINE | 20840892 | 20841016 | 20840919 | 20840919 | Missense_Mutation | C | T | p.R2350Q |
| MERO83_LUNG | 20842588 | 20842695 | 20842641 | 20842641 | Missense_Mutation | G | A | p.R2140W |
| SNGM_ENDOMETRIUM | 20846183 | 20846395 | 20846200 | 20846200 | Missense_Mutation | C | T | p.A1902T |
| HCC95_LUNG | 20846183 | 20846395 | 20846202 | 20846202 | Missense_Mutation | G | C | p.T1901R |
| NCIH1573_LUNG | 20846183 | 20846395 | 20846202 | 20846202 | Missense_Mutation | G | A | p.T1901M |
| NCIH1436_LUNG | 20846183 | 20846395 | 20846239 | 20846239 | Missense_Mutation | C | G | p.A1889P |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20846183 | 20846395 | 20846277 | 20846277 | Missense_Mutation | C | T | p.R1876Q |
| HCC1428_BREAST | 20846183 | 20846395 | 20846283 | 20846283 | Missense_Mutation | C | A | p.G1874V |
| SNU175_LARGE_INTESTINE | 20846183 | 20846395 | 20846323 | 20846323 | Missense_Mutation | G | A | p.R1861W |
| SF172_CENTRAL_NERVOUS_SYSTEM | 20846913 | 20847012 | 20846956 | 20846956 | Missense_Mutation | T | G | p.D1770A |
| KE39_STOMACH | 20849712 | 20849845 | 20849730 | 20849730 | Missense_Mutation | C | T | p.A1514T |
| HEC108_ENDOMETRIUM | 20849712 | 20849845 | 20849783 | 20849783 | Missense_Mutation | A | G | p.L1496P |
| NUGC4_STOMACH | 20849712 | 20849845 | 20849792 | 20849792 | Missense_Mutation | T | C | p.D1493G |
| HCT116_LARGE_INTESTINE | 20849712 | 20849845 | 20849808 | 20849808 | Missense_Mutation | G | A | p.R1488W |
| HCC2450_LUNG | 20852550 | 20852667 | 20852648 | 20852648 | Missense_Mutation | C | A | p.G1081C |
| KYSE270_OESOPHAGUS | 20856064 | 20856222 | 20856079 | 20856079 | Missense_Mutation | G | A | p.P890L |
| NCIH2731_PLEURA | 20856064 | 20856222 | 20856165 | 20856165 | Missense_Mutation | T | A | p.K861N |
| HSC1_SKIN | 20856064 | 20856222 | 20856191 | 20856191 | Missense_Mutation | G | C | p.L853V |
| CW2_LARGE_INTESTINE | 20857769 | 20857899 | 20857796 | 20857796 | Missense_Mutation | C | T | p.G813D |
| CALU6_LUNG | 20857769 | 20857899 | 20857823 | 20857823 | Missense_Mutation | C | G | p.R804P |
| FTC238_THYROID | 20869143 | 20869300 | 20869166 | 20869166 | Missense_Mutation | G | A | p.A509V |
| SNU1040_LARGE_INTESTINE | 20869143 | 20869300 | 20869265 | 20869265 | Missense_Mutation | C | T | p.R476H |
| KM12_LARGE_INTESTINE | 20872770 | 20872931 | 20872839 | 20872839 | Missense_Mutation | G | T | p.H321Q |
| Y79_AUTONOMIC_GANGLIA | 20874392 | 20874559 | 20874508 | 20874509 | Missense_Mutation | AA | GC | p.S207P |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20874392 | 20874559 | 20874555 | 20874555 | Missense_Mutation | C | T | p.R191H |
| SF126_CENTRAL_NERVOUS_SYSTEM | 20869143 | 20869300 | 20869191 | 20869191 | Nonsense_Mutation | C | A | p.E501* |
| NMCG1_CENTRAL_NERVOUS_SYSTEM | 20842588 | 20842695 | 20842577 | 20842595 | Splice_Site | TGCTTTCTCACCACAGCTG | - | p.AAV2155fs |
| JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20846183 | 20846395 | 20846395 | 20846395 | Splice_Site | C | A | p.D1837Y |
| MFE319_ENDOMETRIUM | 20848089 | 20848212 | 20848211 | 20848211 | Splice_Site | A | G | p.S1669P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TEP1 |
| 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 TEP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TEP1 |
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RelatedDrugs for TEP1 |
| 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 TEP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TEP1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
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