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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 COL6A3 |
 Gene summary |
| Gene information | Gene symbol | COL6A3 | Gene ID | 1293 |
| Gene name | collagen type VI alpha 3 chain | |
| Synonyms | BTHLM1|DYT27|UCMD1 | |
| Cytomap | 2q37.3 | |
| Type of gene | protein-coding | |
| Description | collagen alpha-3(VI) chaincollagen VI, alpha-3 polypeptidecollagen, type VI, alpha 3 | |
| Modification date | 20180523 | |
| UniProtAcc | P12111 | |
| Context | PubMed: COL6A3 [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 COL6A3 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 COL6A3 |
| 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 COL6A3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_347504 | 2 | 238234215:238234367:238242092:238242191:238243268:238243429 | 238242092:238242191 | ENSG00000163359.11 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 |
| exon_skip_347508 | 2 | 238242092:238242191:238243268:238243532:238244777:238244823 | 238243268:238243532 | ENSG00000163359.11 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 |
| exon_skip_347509 | 2 | 238247657:238247760:238249094:238249793:238250707:238250804 | 238249094:238249793 | ENSG00000163359.11 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 |
| exon_skip_347512 | 2 | 238249094:238249793:238250707:238250804:238252992:238253486 | 238250707:238250804 | ENSG00000163359.11 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 |
| exon_skip_347522 | 2 | 238252992:238253486:238253583:238253595:238253700:238253737 | 238253583:238253595 | ENSG00000163359.11 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 |
| exon_skip_347524 | 2 | 238266459:238266525:238267163:238267226:238267677:238267731 | 238267163:238267226 | ENSG00000163359.11 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 |
| exon_skip_347528 | 2 | 238275329:238275929:238277205:238277820:238280374:238280980 | 238277205:238277820 | ENSG00000163359.11 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 |
| exon_skip_347530 | 2 | 238285760:238285987:238287278:238287878:238289557:238290142 | 238287278:238287878 | ENSG00000163359.11 | ENST00000353578.4,ENST00000392003.2,ENST00000295550.4,ENST00000409809.1,ENST00000392004.3,ENST00000347401.3 |
| exon_skip_347535 | 2 | 238285760:238285987:238289557:238290142:238296224:238296720 | 238289557:238290142 | ENSG00000163359.11 | ENST00000346358.4,ENST00000433762.1 |
| exon_skip_347536 | 2 | 238285760:238285987:238289557:238290142:238305369:238305405 | 238289557:238290142 | ENSG00000163359.11 | ENST00000472056.1 |
| exon_skip_347543 | 2 | 238287278:238287878:238289557:238290142:238305369:238305460 | 238289557:238290142 | ENSG00000163359.11 | ENST00000392003.2 |
| exon_skip_347547 | 2 | 238289557:238290142:238296224:238296827:238303229:238303307 | 238296224:238296827 | ENSG00000163359.11 | ENST00000295550.4,ENST00000346358.4,ENST00000433762.1 |
| exon_skip_347548 | 2 | 238289779:238290142:238296224:238296827:238305369:238305460 | 238296224:238296827 | ENSG00000163359.11 | ENST00000353578.4,ENST00000409809.1,ENST00000392004.3 |
| exon_skip_347552 | 2 | 238289779:238290142:238303229:238303847:238305369:238305460 | 238303229:238303847 | ENSG00000163359.11 | ENST00000347401.3 |
| exon_skip_347557 | 2 | 238296224:238296827:238303229:238303847:238305369:238305405 | 238303229:238303847 | ENSG00000163359.11 | ENST00000295550.4,ENST00000346358.4,ENST00000433762.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COL6A3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_347504 | 2 | 238234215:238234367:238242092:238242191:238243268:238243429 | 238242092:238242191 | ENSG00000163359.11 | ENST00000295550.4,ENST00000347401.3,ENST00000353578.4,ENST00000491769.1,ENST00000472056.1,ENST00000409809.1,ENST00000346358.4 |
| exon_skip_347508 | 2 | 238242092:238242191:238243268:238243532:238244777:238244823 | 238243268:238243532 | ENSG00000163359.11 | ENST00000295550.4,ENST00000347401.3,ENST00000353578.4,ENST00000491769.1,ENST00000472056.1,ENST00000409809.1,ENST00000346358.4 |
| exon_skip_347509 | 2 | 238247657:238247760:238249094:238249793:238250707:238250804 | 238249094:238249793 | ENSG00000163359.11 | ENST00000295550.4,ENST00000347401.3,ENST00000353578.4,ENST00000491769.1,ENST00000472056.1,ENST00000409809.1,ENST00000346358.4 |
| exon_skip_347512 | 2 | 238249094:238249793:238250707:238250804:238252992:238253486 | 238250707:238250804 | ENSG00000163359.11 | ENST00000295550.4,ENST00000347401.3,ENST00000353578.4,ENST00000472056.1,ENST00000409809.1,ENST00000346358.4 |
| exon_skip_347522 | 2 | 238252992:238253486:238253583:238253595:238253700:238253737 | 238253583:238253595 | ENSG00000163359.11 | ENST00000295550.4,ENST00000347401.3,ENST00000353578.4,ENST00000491769.1,ENST00000472056.1,ENST00000409809.1,ENST00000346358.4 |
| exon_skip_347524 | 2 | 238266459:238266525:238267163:238267226:238267677:238267731 | 238267163:238267226 | ENSG00000163359.11 | ENST00000295550.4,ENST00000347401.3,ENST00000353578.4,ENST00000472056.1,ENST00000409809.1,ENST00000346358.4 |
| exon_skip_347528 | 2 | 238275329:238275929:238277205:238277820:238280374:238280980 | 238277205:238277820 | ENSG00000163359.11 | ENST00000295550.4,ENST00000347401.3,ENST00000353578.4,ENST00000472056.1,ENST00000409809.1,ENST00000346358.4 |
| exon_skip_347530 | 2 | 238285760:238285987:238287278:238287878:238289557:238290142 | 238287278:238287878 | ENSG00000163359.11 | ENST00000295550.4,ENST00000347401.3,ENST00000353578.4,ENST00000409809.1,ENST00000392004.3,ENST00000392003.2 |
| exon_skip_347535 | 2 | 238285760:238285987:238289557:238290142:238296224:238296720 | 238289557:238290142 | ENSG00000163359.11 | ENST00000346358.4,ENST00000433762.1 |
| exon_skip_347536 | 2 | 238285760:238285987:238289557:238290142:238305369:238305405 | 238289557:238290142 | ENSG00000163359.11 | ENST00000472056.1 |
| exon_skip_347543 | 2 | 238287278:238287878:238289557:238290142:238305369:238305460 | 238289557:238290142 | ENSG00000163359.11 | ENST00000392003.2 |
| exon_skip_347547 | 2 | 238289557:238290142:238296224:238296827:238303229:238303307 | 238296224:238296827 | ENSG00000163359.11 | ENST00000295550.4,ENST00000346358.4,ENST00000433762.1 |
| exon_skip_347548 | 2 | 238289779:238290142:238296224:238296827:238305369:238305460 | 238296224:238296827 | ENSG00000163359.11 | ENST00000353578.4,ENST00000409809.1,ENST00000392004.3 |
| exon_skip_347552 | 2 | 238289779:238290142:238303229:238303847:238305369:238305460 | 238303229:238303847 | ENSG00000163359.11 | ENST00000347401.3 |
| exon_skip_347557 | 2 | 238296224:238296827:238303229:238303847:238305369:238305405 | 238303229:238303847 | ENSG00000163359.11 | ENST00000295550.4,ENST00000346358.4,ENST00000433762.1 |
| 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 COL6A3 |
| 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 |
| ENST00000295550 | 238250707 | 238250804 | Frame-shift |
| ENST00000295550 | 238242092 | 238242191 | In-frame |
| ENST00000295550 | 238243268 | 238243532 | In-frame |
| ENST00000295550 | 238249094 | 238249793 | In-frame |
| ENST00000295550 | 238253583 | 238253595 | In-frame |
| ENST00000295550 | 238267163 | 238267226 | In-frame |
| ENST00000295550 | 238277205 | 238277820 | In-frame |
| ENST00000295550 | 238287278 | 238287878 | In-frame |
| ENST00000295550 | 238296224 | 238296827 | In-frame |
| ENST00000295550 | 238303229 | 238303847 | 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 |
| ENST00000295550 | 238250707 | 238250804 | Frame-shift |
| ENST00000295550 | 238242092 | 238242191 | In-frame |
| ENST00000295550 | 238243268 | 238243532 | In-frame |
| ENST00000295550 | 238249094 | 238249793 | In-frame |
| ENST00000295550 | 238253583 | 238253595 | In-frame |
| ENST00000295550 | 238267163 | 238267226 | In-frame |
| ENST00000295550 | 238277205 | 238277820 | In-frame |
| ENST00000295550 | 238287278 | 238287878 | In-frame |
| ENST00000295550 | 238296224 | 238296827 | In-frame |
| ENST00000295550 | 238303229 | 238303847 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COL6A3 |
| 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 |
| ENST00000295550 | 10766 | 3177 | 238303229 | 238303847 | 545 | 1162 | 30 | 236 |
| ENST00000295550 | 10766 | 3177 | 238296224 | 238296827 | 1163 | 1765 | 236 | 437 |
| ENST00000295550 | 10766 | 3177 | 238287278 | 238287878 | 2351 | 2950 | 632 | 832 |
| ENST00000295550 | 10766 | 3177 | 238277205 | 238277820 | 4739 | 5353 | 1428 | 1633 |
| ENST00000295550 | 10766 | 3177 | 238267163 | 238267226 | 6862 | 6924 | 2136 | 2157 |
| ENST00000295550 | 10766 | 3177 | 238249094 | 238249793 | 8219 | 8917 | 2588 | 2821 |
| ENST00000295550 | 10766 | 3177 | 238243268 | 238243532 | 9419 | 9682 | 2988 | 3076 |
| ENST00000295550 | 10766 | 3177 | 238242092 | 238242191 | 9683 | 9781 | 3076 | 3109 |
| 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 |
| ENST00000295550 | 10766 | 3177 | 238303229 | 238303847 | 545 | 1162 | 30 | 236 |
| ENST00000295550 | 10766 | 3177 | 238296224 | 238296827 | 1163 | 1765 | 236 | 437 |
| ENST00000295550 | 10766 | 3177 | 238287278 | 238287878 | 2351 | 2950 | 632 | 832 |
| ENST00000295550 | 10766 | 3177 | 238277205 | 238277820 | 4739 | 5353 | 1428 | 1633 |
| ENST00000295550 | 10766 | 3177 | 238267163 | 238267226 | 6862 | 6924 | 2136 | 2157 |
| ENST00000295550 | 10766 | 3177 | 238249094 | 238249793 | 8219 | 8917 | 2588 | 2821 |
| ENST00000295550 | 10766 | 3177 | 238243268 | 238243532 | 9419 | 9682 | 2988 | 3076 |
| ENST00000295550 | 10766 | 3177 | 238242092 | 238242191 | 9683 | 9781 | 3076 | 3109 |
| 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 COL6A3 |
| - 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. |
COL6A3_COAD_exon_skip_347508_psi_boxplot.png |
COL6A3_SKCM_exon_skip_347530_psi_boxplot.png |
COL6A3_STAD_exon_skip_347530_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 |
| STAD | TCGA-CG-4306-01 | exon_skip_347504 | 238242093 | 238242191 | 238242176 | 238242176 | Frame_Shift_Del | G | - | p.P3082fs |
| COAD | TCGA-F4-6856-01 | exon_skip_347508 | 238243269 | 238243532 | 238243453 | 238243453 | Frame_Shift_Del | G | - | p.G2810fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_347508 | 238243269 | 238243532 | 238243464 | 238243464 | Frame_Shift_Del | C | - | p.A3012fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_347528 | 238277206 | 238277820 | 238277223 | 238277223 | Frame_Shift_Del | G | - | p.P1628fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_347528 | 238277206 | 238277820 | 238277223 | 238277223 | Frame_Shift_Del | G | - | p.P1630fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_347528 | 238277206 | 238277820 | 238277233 | 238277233 | Frame_Shift_Del | C | - | p.V1625fs |
| BLCA | TCGA-BT-A2LB-01 | exon_skip_347528 | 238277206 | 238277820 | 238277474 | 238277475 | Frame_Shift_Del | CA | - | p.L1544fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_347530 | 238287279 | 238287878 | 238287330 | 238287330 | Frame_Shift_Del | G | - | p.L816fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_347530 | 238287279 | 238287878 | 238287819 | 238287819 | Frame_Shift_Del | T | - | p.T653fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_347530 | 238287279 | 238287878 | 238287864 | 238287864 | Frame_Shift_Del | T | - | p.R638fs |
| COAD | TCGA-A6-6781-01 | exon_skip_347543 exon_skip_347535 exon_skip_347536 | 238289558 | 238290142 | 238289939 | 238289939 | Frame_Shift_Del | T | - | p.R300fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_347547 exon_skip_347548 | 238296225 | 238296827 | 238296393 | 238296393 | Frame_Shift_Del | G | - | p.Q382fs |
| HNSC | TCGA-CR-7364-01 | exon_skip_347557 exon_skip_347552 | 238303230 | 238303847 | 238303598 | 238303598 | Frame_Shift_Del | C | - | p.G114fs |
| LIHC | TCGA-UB-A7MB-01 | exon_skip_347557 exon_skip_347552 | 238303230 | 238303847 | 238303641 | 238303641 | Frame_Shift_Del | G | - | p.Q100fs |
| LUAD | TCGA-NJ-A55O-01 | exon_skip_347543 exon_skip_347535 exon_skip_347536 | 238289558 | 238290142 | 238289948 | 238289949 | Frame_Shift_Ins | - | A | p.N503fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_347528 | 238277206 | 238277820 | 238277290 | 238277290 | Nonsense_Mutation | C | A | p.E1606* |
| LUSC | TCGA-18-3414-01 | exon_skip_347528 | 238277206 | 238277820 | 238277716 | 238277716 | Nonsense_Mutation | G | A | p.R1464* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_347528 | 238277206 | 238277820 | 238277716 | 238277716 | Nonsense_Mutation | G | A | p.R1464* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_347528 | 238277206 | 238277820 | 238277716 | 238277716 | Nonsense_Mutation | G | A | p.R857X |
| BLCA | TCGA-GC-A3YS-01 | exon_skip_347528 | 238277206 | 238277820 | 238277740 | 238277740 | Nonsense_Mutation | G | A | p.R1456* |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_347530 | 238287279 | 238287878 | 238287336 | 238287336 | Nonsense_Mutation | G | A | p.Q814* |
| BRCA | TCGA-A2-A0T3-01 | exon_skip_347543 exon_skip_347535 exon_skip_347536 | 238289558 | 238290142 | 238290029 | 238290029 | Nonsense_Mutation | C | A | p.E476* |
| READ | TCGA-AG-A002-01 | exon_skip_347547 exon_skip_347548 | 238296225 | 238296827 | 238296672 | 238296672 | Nonsense_Mutation | C | A | p.E289X |
| LUAD | TCGA-05-4382-01 | exon_skip_347557 exon_skip_347552 | 238303230 | 238303847 | 238303368 | 238303368 | Nonsense_Mutation | C | A | p.E191* |
| UCEC | TCGA-AP-A056-01 | exon_skip_347557 exon_skip_347552 | 238303230 | 238303847 | 238303380 | 238303380 | Nonsense_Mutation | C | A | p.E187* |
| UCEC | TCGA-AP-A051-01 | exon_skip_347557 exon_skip_347552 | 238303230 | 238303847 | 238303578 | 238303578 | Nonsense_Mutation | C | A | p.G121* |
| LUAD | TCGA-78-7155-01 | exon_skip_347557 exon_skip_347552 | 238303230 | 238303847 | 238303671 | 238303671 | Nonsense_Mutation | C | A | p.E90* |
| HNSC | TCGA-CN-6992-01 | exon_skip_347504 | 238242093 | 238242191 | 238242092 | 238242092 | Splice_Site | C | T | p.D3110_splice |
| COAD | TCGA-CM-5861-01 | exon_skip_347512 | 238250708 | 238250804 | 238250706 | 238250706 | Splice_Site | A | G | . |
| STAD | TCGA-BR-6852-01 | exon_skip_347530 | 238287279 | 238287878 | 238287277 | 238287277 | Splice_Site | A | G | p.E833_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-05-4382-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_347552 | |
| Skipped exon start: 238303230 | |
| Skipped exon end: 238303847 | |
| Mutation start: 238303368 | |
| Mutation end: 238303368 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E191* | |
exon_skip_129994_LUAD_TCGA-05-4382-01.png | |
exon_skip_129996_LUAD_TCGA-05-4382-01.png | |
exon_skip_146150_LUAD_TCGA-05-4382-01.png | |
exon_skip_19523_LUAD_TCGA-05-4382-01.png | |
exon_skip_327136_LUAD_TCGA-05-4382-01.png | |
exon_skip_331845_LUAD_TCGA-05-4382-01.png | |
exon_skip_347552_LUAD_TCGA-05-4382-01.png | |
exon_skip_347557_LUAD_TCGA-05-4382-01.png | |
exon_skip_359496_LUAD_TCGA-05-4382-01.png | |
exon_skip_367842_LUAD_TCGA-05-4382-01.png | |
exon_skip_367844_LUAD_TCGA-05-4382-01.png | |
exon_skip_425876_LUAD_TCGA-05-4382-01.png | |
exon_skip_434000_LUAD_TCGA-05-4382-01.png | |
exon_skip_448593_LUAD_TCGA-05-4382-01.png | |
exon_skip_91823_LUAD_TCGA-05-4382-01.png | |
 | Sample: TCGA-78-7155-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_347552 | |
| Skipped exon start: 238303230 | |
| Skipped exon end: 238303847 | |
| Mutation start: 238303671 | |
| Mutation end: 238303671 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E90* | |
exon_skip_330019_LUAD_TCGA-78-7155-01.png | |
exon_skip_347552_LUAD_TCGA-78-7155-01.png | |
exon_skip_348786_LUAD_TCGA-78-7155-01.png | |
exon_skip_348789_LUAD_TCGA-78-7155-01.png | |
exon_skip_354315_LUAD_TCGA-78-7155-01.png | |
exon_skip_38477_LUAD_TCGA-78-7155-01.png | |
exon_skip_7325_LUAD_TCGA-78-7155-01.png | |
 | Sample: TCGA-AP-A056-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_347552 | |
| Skipped exon start: 238303230 | |
| Skipped exon end: 238303847 | |
| Mutation start: 238303380 | |
| Mutation end: 238303380 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E187* | |
exon_skip_148936_UCEC_TCGA-AP-A056-01.png | |
exon_skip_331276_UCEC_TCGA-AP-A056-01.png | |
exon_skip_347552_UCEC_TCGA-AP-A056-01.png | |
exon_skip_37318_UCEC_TCGA-AP-A056-01.png | |
exon_skip_389380_UCEC_TCGA-AP-A056-01.png | |
exon_skip_445277_UCEC_TCGA-AP-A056-01.png | |
exon_skip_470936_UCEC_TCGA-AP-A056-01.png | |
exon_skip_54221_UCEC_TCGA-AP-A056-01.png | |
exon_skip_81411_UCEC_TCGA-AP-A056-01.png | |
 | Sample: TCGA-CR-7364-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_347552 | |
| Skipped exon start: 238303230 | |
| Skipped exon end: 238303847 | |
| Mutation start: 238303598 | |
| Mutation end: 238303598 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G114fs | |
exon_skip_286384_HNSC_TCGA-CR-7364-01.png | |
exon_skip_347552_HNSC_TCGA-CR-7364-01.png | |
exon_skip_347557_HNSC_TCGA-CR-7364-01.png | |
 | Sample: TCGA-05-4382-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_347552 | |
| Skipped exon start: 238303230 | |
| Skipped exon end: 238303847 | |
| Mutation start: 238303368 | |
| Mutation end: 238303368 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E191* | |
| exon_skip_129994_LUAD_TCGA-05-4382-01.png | |
| exon_skip_129996_LUAD_TCGA-05-4382-01.png | |
| exon_skip_146150_LUAD_TCGA-05-4382-01.png | |
| exon_skip_19523_LUAD_TCGA-05-4382-01.png | |
| exon_skip_327136_LUAD_TCGA-05-4382-01.png | |
| exon_skip_331845_LUAD_TCGA-05-4382-01.png | |
| exon_skip_347552_LUAD_TCGA-05-4382-01.png | |
| exon_skip_347557_LUAD_TCGA-05-4382-01.png | |
| exon_skip_359496_LUAD_TCGA-05-4382-01.png | |
| exon_skip_367842_LUAD_TCGA-05-4382-01.png | |
| exon_skip_367844_LUAD_TCGA-05-4382-01.png | |
| exon_skip_425876_LUAD_TCGA-05-4382-01.png | |
| exon_skip_434000_LUAD_TCGA-05-4382-01.png | |
| exon_skip_448593_LUAD_TCGA-05-4382-01.png | |
| exon_skip_91823_LUAD_TCGA-05-4382-01.png | |
 | Sample: TCGA-78-7155-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_347552 | |
| Skipped exon start: 238303230 | |
| Skipped exon end: 238303847 | |
| Mutation start: 238303671 | |
| Mutation end: 238303671 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E90* | |
| exon_skip_330019_LUAD_TCGA-78-7155-01.png | |
| exon_skip_347552_LUAD_TCGA-78-7155-01.png | |
| exon_skip_348786_LUAD_TCGA-78-7155-01.png | |
| exon_skip_348789_LUAD_TCGA-78-7155-01.png | |
| exon_skip_354315_LUAD_TCGA-78-7155-01.png | |
| exon_skip_38477_LUAD_TCGA-78-7155-01.png | |
| exon_skip_7325_LUAD_TCGA-78-7155-01.png | |
 | Sample: TCGA-AP-A056-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_347552 | |
| Skipped exon start: 238303230 | |
| Skipped exon end: 238303847 | |
| Mutation start: 238303380 | |
| Mutation end: 238303380 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E187* | |
| exon_skip_148936_UCEC_TCGA-AP-A056-01.png | |
| exon_skip_331276_UCEC_TCGA-AP-A056-01.png | |
| exon_skip_347552_UCEC_TCGA-AP-A056-01.png | |
| exon_skip_37318_UCEC_TCGA-AP-A056-01.png | |
| exon_skip_389380_UCEC_TCGA-AP-A056-01.png | |
| exon_skip_445277_UCEC_TCGA-AP-A056-01.png | |
| exon_skip_470936_UCEC_TCGA-AP-A056-01.png | |
| exon_skip_54221_UCEC_TCGA-AP-A056-01.png | |
| exon_skip_81411_UCEC_TCGA-AP-A056-01.png | |
 | Sample: TCGA-CR-7364-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_347552 | |
| Skipped exon start: 238303230 | |
| Skipped exon end: 238303847 | |
| Mutation start: 238303598 | |
| Mutation end: 238303598 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G114fs | |
| exon_skip_286384_HNSC_TCGA-CR-7364-01.png | |
| exon_skip_347552_HNSC_TCGA-CR-7364-01.png | |
| exon_skip_347557_HNSC_TCGA-CR-7364-01.png | |
 | Sample: TCGA-AG-A002-01 |
| Cancer type: READ | |
| ESID: exon_skip_347548 | |
| Skipped exon start: 238296225 | |
| Skipped exon end: 238296827 | |
| Mutation start: 238296672 | |
| Mutation end: 238296672 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E289X | |
exon_skip_115696_READ_TCGA-AG-A002-01.png | |
exon_skip_145114_READ_TCGA-AG-A002-01.png | |
exon_skip_145115_READ_TCGA-AG-A002-01.png | |
exon_skip_148319_READ_TCGA-AG-A002-01.png | |
exon_skip_148332_READ_TCGA-AG-A002-01.png | |
exon_skip_148345_READ_TCGA-AG-A002-01.png | |
exon_skip_148351_READ_TCGA-AG-A002-01.png | |
exon_skip_17994_READ_TCGA-AG-A002-01.png | |
exon_skip_290120_READ_TCGA-AG-A002-01.png | |
exon_skip_347548_READ_TCGA-AG-A002-01.png | |
exon_skip_376191_READ_TCGA-AG-A002-01.png | |
exon_skip_499103_READ_TCGA-AG-A002-01.png | |
 | Sample: TCGA-A2-A0T3-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_347536 | |
| Skipped exon start: 238289558 | |
| Skipped exon end: 238290142 | |
| Mutation start: 238290029 | |
| Mutation end: 238290029 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E476* | |
exon_skip_347536_BRCA_TCGA-A2-A0T3-01.png | |
 | Sample: TCGA-A6-6781-01 |
| Cancer type: COAD | |
| ESID: exon_skip_347536 | |
| Skipped exon start: 238289558 | |
| Skipped exon end: 238290142 | |
| Mutation start: 238289939 | |
| Mutation end: 238289939 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.R300fs | |
exon_skip_113241_COAD_TCGA-A6-6781-01.png | |
exon_skip_142268_COAD_TCGA-A6-6781-01.png | |
exon_skip_347536_COAD_TCGA-A6-6781-01.png | |
exon_skip_3490_COAD_TCGA-A6-6781-01.png | |
exon_skip_35193_COAD_TCGA-A6-6781-01.png | |
exon_skip_390969_COAD_TCGA-A6-6781-01.png | |
exon_skip_438601_COAD_TCGA-A6-6781-01.png | |
exon_skip_438605_COAD_TCGA-A6-6781-01.png | |
exon_skip_77217_COAD_TCGA-A6-6781-01.png | |
 | Sample: TCGA-BR-6852-01 |
| Cancer type: STAD | |
| ESID: exon_skip_347530 | |
| Skipped exon start: 238287279 | |
| Skipped exon end: 238287878 | |
| Mutation start: 238287277 | |
| Mutation end: 238287277 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.E833_splice | |
exon_skip_347530_STAD_TCGA-BR-6852-01.png | |
exon_skip_374468_STAD_TCGA-BR-6852-01.png | |
exon_skip_374469_STAD_TCGA-BR-6852-01.png | |
exon_skip_383994_STAD_TCGA-BR-6852-01.png | |
exon_skip_425876_STAD_TCGA-BR-6852-01.png | |
exon_skip_468121_STAD_TCGA-BR-6852-01.png | |
exon_skip_500520_STAD_TCGA-BR-6852-01.png | |
exon_skip_69752_STAD_TCGA-BR-6852-01.png | |
 | Sample: TCGA-D3-A8GI-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_347530 | |
| Skipped exon start: 238287279 | |
| Skipped exon end: 238287878 | |
| Mutation start: 238287336 | |
| Mutation end: 238287336 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q814* | |
exon_skip_121036_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_127622_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_127623_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_347530_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_347668_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_59444_SKCM_TCGA-D3-A8GI-06.png | |
 | Sample: TCGA-F4-6856-01 |
| Cancer type: COAD | |
| ESID: exon_skip_347508 | |
| Skipped exon start: 238243269 | |
| Skipped exon end: 238243532 | |
| Mutation start: 238243453 | |
| Mutation end: 238243453 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.G2810fs | |
exon_skip_318867_COAD_TCGA-F4-6856-01.png | |
exon_skip_347508_COAD_TCGA-F4-6856-01.png | |
exon_skip_449553_COAD_TCGA-F4-6856-01.png | |
exon_skip_500368_COAD_TCGA-F4-6856-01.png | |
exon_skip_76505_COAD_TCGA-F4-6856-01.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 |
| IGROV1_OVARY | 238296225 | 238296827 | 238296521 | 238296521 | Frame_Shift_Del | C | - | p.G339fs |
| RKO_LARGE_INTESTINE | 238287279 | 238287878 | 238287768 | 238287769 | Frame_Shift_Ins | - | A | p.D670fs |
| ISTMES2_PLEURA | 238303230 | 238303847 | 238303462 | 238303463 | Frame_Shift_Ins | - | G | p.A159fs |
| SUM159PT_BREAST | 238296225 | 238296827 | 238296695 | 238296697 | In_Frame_Del | ACT | - | p.V281del |
| KLE_ENDOMETRIUM | 238242093 | 238242191 | 238242128 | 238242128 | Missense_Mutation | A | G | p.M3098T |
| HCC2998_LARGE_INTESTINE | 238242093 | 238242191 | 238242188 | 238242188 | Missense_Mutation | T | G | p.K3078T |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238243269 | 238243532 | 238243367 | 238243367 | Missense_Mutation | A | G | p.V3044A |
| PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238243269 | 238243532 | 238243382 | 238243382 | Missense_Mutation | G | A | p.T3039M |
| NCIH2110_LUNG | 238243269 | 238243532 | 238243503 | 238243503 | Missense_Mutation | C | G | p.E2999Q |
| OVISE_OVARY | 238249095 | 238249793 | 238249145 | 238249145 | Missense_Mutation | T | C | p.N2805S |
| OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238249095 | 238249793 | 238249148 | 238249148 | Missense_Mutation | A | C | p.L2804R |
| HCC2998_LARGE_INTESTINE | 238249095 | 238249793 | 238249185 | 238249185 | Missense_Mutation | C | T | p.D2792N |
| MM127_SKIN | 238249095 | 238249793 | 238249215 | 238249216 | Missense_Mutation | CC | TT | p.E2782K |
| ACHN_KIDNEY | 238249095 | 238249793 | 238249217 | 238249217 | Missense_Mutation | T | C | p.K2781R |
| LS513_LARGE_INTESTINE | 238249095 | 238249793 | 238249227 | 238249227 | Missense_Mutation | C | T | p.V2778M |
| BE2M17_AUTONOMIC_GANGLIA | 238249095 | 238249793 | 238249251 | 238249251 | Missense_Mutation | C | T | p.V2770M |
| SKNBE2_AUTONOMIC_GANGLIA | 238249095 | 238249793 | 238249251 | 238249251 | Missense_Mutation | C | T | p.V2770M |
| SW480_LARGE_INTESTINE | 238249095 | 238249793 | 238249328 | 238249328 | Missense_Mutation | G | A | p.T2744M |
| EN_ENDOMETRIUM | 238249095 | 238249793 | 238249363 | 238249363 | Missense_Mutation | G | T | p.N2732K |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238249095 | 238249793 | 238249418 | 238249418 | Missense_Mutation | G | A | p.A2714V |
| JHUEM1_ENDOMETRIUM | 238249095 | 238249793 | 238249419 | 238249419 | Missense_Mutation | C | A | p.A2714S |
| HT55_LARGE_INTESTINE | 238249095 | 238249793 | 238249451 | 238249451 | Missense_Mutation | C | T | p.S2703N |
| DU145_PROSTATE | 238249095 | 238249793 | 238249514 | 238249514 | Missense_Mutation | G | T | p.P2682H |
| SNU1040_LARGE_INTESTINE | 238249095 | 238249793 | 238249575 | 238249575 | Missense_Mutation | C | T | p.A2662T |
| KM12_LARGE_INTESTINE | 238249095 | 238249793 | 238249688 | 238249688 | Missense_Mutation | A | G | p.L2624S |
| NCIH2373_PLEURA | 238249095 | 238249793 | 238249727 | 238249727 | Missense_Mutation | G | A | p.A2611V |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 238249095 | 238249793 | 238249727 | 238249727 | Missense_Mutation | G | A | p.A2611V |
| SNGM_ENDOMETRIUM | 238249095 | 238249793 | 238249787 | 238249787 | Missense_Mutation | C | T | p.C2591Y |
| HCC1806_BREAST | 238249095 | 238249793 | 238249791 | 238249791 | Missense_Mutation | T | C | p.I2590V |
| NCIH2009_LUNG | 238250708 | 238250804 | 238250736 | 238250736 | Missense_Mutation | C | A | p.E2579D |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238250708 | 238250804 | 238250800 | 238250800 | Missense_Mutation | T | C | p.N2558S |
| SW756_CERVIX | 238267164 | 238267226 | 238267210 | 238267210 | Missense_Mutation | C | T | p.R2142Q |
| HCC56_LARGE_INTESTINE | 238267164 | 238267226 | 238267218 | 238267218 | Missense_Mutation | T | A | p.K2139N |
| CCK81_LARGE_INTESTINE | 238277206 | 238277820 | 238277217 | 238277217 | Missense_Mutation | G | T | p.P1630H |
| NCIH1930_LUNG | 238277206 | 238277820 | 238277451 | 238277451 | Missense_Mutation | G | T | p.S1552Y |
| SNU175_LARGE_INTESTINE | 238277206 | 238277820 | 238277491 | 238277491 | Missense_Mutation | C | T | p.G1539R |
| TCCPAN2_PANCREAS | 238277206 | 238277820 | 238277502 | 238277502 | Missense_Mutation | C | T | p.R1535H |
| HEC1A_ENDOMETRIUM | 238277206 | 238277820 | 238277539 | 238277539 | Missense_Mutation | C | T | p.V1523M |
| SNU1040_LARGE_INTESTINE | 238277206 | 238277820 | 238277586 | 238277586 | Missense_Mutation | C | A | p.R1507M |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238277206 | 238277820 | 238277592 | 238277592 | Missense_Mutation | C | T | p.R1505H |
| NCIH684_LIVER | 238277206 | 238277820 | 238277602 | 238277602 | Missense_Mutation | C | T | p.A1502T |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238277206 | 238277820 | 238277662 | 238277662 | Missense_Mutation | T | G | p.N1482H |
| CW2_LARGE_INTESTINE | 238277206 | 238277820 | 238277754 | 238277754 | Missense_Mutation | C | T | p.G1451D |
| SF295_CENTRAL_NERVOUS_SYSTEM | 238277206 | 238277820 | 238277782 | 238277782 | Missense_Mutation | C | G | p.D1442H |
| OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238277206 | 238277820 | 238277791 | 238277791 | Missense_Mutation | A | G | p.F1439L |
| UMUC5_URINARY_TRACT | 238277206 | 238277820 | 238277797 | 238277797 | Missense_Mutation | T | A | p.I1437F |
| DMS454_LUNG | 238287279 | 238287878 | 238287308 | 238287308 | Missense_Mutation | C | A | p.G823V |
| SW48_LARGE_INTESTINE | 238287279 | 238287878 | 238287473 | 238287473 | Missense_Mutation | C | T | p.R768H |
| CW2_LARGE_INTESTINE | 238287279 | 238287878 | 238287473 | 238287473 | Missense_Mutation | C | T | p.R768H |
| CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238287279 | 238287878 | 238287488 | 238287488 | Missense_Mutation | G | C | p.A763G |
| JHUEM7_ENDOMETRIUM | 238287279 | 238287878 | 238287596 | 238287596 | Missense_Mutation | T | C | p.Y727C |
| SH10TC_STOMACH | 238287279 | 238287878 | 238287596 | 238287596 | Missense_Mutation | T | C | p.Y727C |
| KYAE1_OESOPHAGUS | 238287279 | 238287878 | 238287761 | 238287761 | Missense_Mutation | C | A | p.G672V |
| CW2_LARGE_INTESTINE | 238287279 | 238287878 | 238287804 | 238287804 | Missense_Mutation | C | T | p.V658M |
| K029AX_SKIN | 238287279 | 238287878 | 238287828 | 238287828 | Missense_Mutation | C | T | p.V650I |
| SISO_CERVIX | 238289558 | 238290142 | 238289624 | 238289624 | Missense_Mutation | C | T | p.A611T |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238289558 | 238290142 | 238289624 | 238289624 | Missense_Mutation | C | T | p.A611T |
| JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238289558 | 238290142 | 238289657 | 238289657 | Missense_Mutation | A | G | p.S600P |
| SN12C_KIDNEY | 238289558 | 238290142 | 238289743 | 238289743 | Missense_Mutation | T | C | p.E571G |
| MCC13_SKIN | 238289558 | 238290142 | 238289779 | 238289779 | Missense_Mutation | C | T | p.G559D |
| HCC2998_LARGE_INTESTINE | 238289558 | 238290142 | 238289816 | 238289816 | Missense_Mutation | C | T | p.E547K |
| NCIH23_LUNG | 238289558 | 238290142 | 238289881 | 238289881 | Missense_Mutation | G | A | p.T525M |
| SCH_STOMACH | 238289558 | 238290142 | 238289887 | 238289887 | Missense_Mutation | A | G | p.L523P |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238289558 | 238290142 | 238289921 | 238289921 | Missense_Mutation | C | G | p.V512L |
| GSS_STOMACH | 238289558 | 238290142 | 238289924 | 238289924 | Missense_Mutation | C | T | p.A511T |
| OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238289558 | 238290142 | 238290010 | 238290010 | Missense_Mutation | A | T | p.I482N |
| NCIH661_LUNG | 238289558 | 238290142 | 238290028 | 238290028 | Missense_Mutation | T | C | p.E476G |
| NCIH2291_LUNG | 238289558 | 238290142 | 238290094 | 238290094 | Missense_Mutation | G | C | p.S454C |
| HEC251_ENDOMETRIUM | 238289558 | 238290142 | 238290122 | 238290122 | Missense_Mutation | C | A | p.D445Y |
| NCIH513_PLEURA | 238289558 | 238290142 | 238290131 | 238290131 | Missense_Mutation | T | G | p.N442H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 238289558 | 238290142 | 238290138 | 238290138 | Missense_Mutation | A | C | p.I439M |
| BHT101_THYROID | 238296225 | 238296827 | 238296276 | 238296276 | Missense_Mutation | C | G | p.G421R |
| SNUC1_LARGE_INTESTINE | 238296225 | 238296827 | 238296287 | 238296287 | Missense_Mutation | G | A | p.P417L |
| HEC251_ENDOMETRIUM | 238296225 | 238296827 | 238296298 | 238296298 | Missense_Mutation | C | A | p.E413D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238296225 | 238296827 | 238296347 | 238296347 | Missense_Mutation | T | C | p.N397S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 238296225 | 238296827 | 238296347 | 238296347 | Missense_Mutation | T | C | p.N397S |
| JHU022_UPPER_AERODIGESTIVE_TRACT | 238296225 | 238296827 | 238296354 | 238296354 | Missense_Mutation | C | T | p.D395N |
| K029AX_SKIN | 238296225 | 238296827 | 238296390 | 238296390 | Missense_Mutation | C | T | p.A383T |
| NCIH740_LUNG | 238296225 | 238296827 | 238296423 | 238296423 | Missense_Mutation | C | T | p.A372T |
| HCC2998_LARGE_INTESTINE | 238296225 | 238296827 | 238296435 | 238296435 | Missense_Mutation | C | T | p.A368T |
| HCC1569_BREAST | 238296225 | 238296827 | 238296446 | 238296446 | Missense_Mutation | T | C | p.Y364C |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238296225 | 238296827 | 238296457 | 238296457 | Missense_Mutation | G | C | p.D360E |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238296225 | 238296827 | 238296457 | 238296457 | Missense_Mutation | G | C | p.D360E |
| KM12_LARGE_INTESTINE | 238296225 | 238296827 | 238296500 | 238296500 | Missense_Mutation | A | G | p.V346A |
| SCMCRM2_SOFT_TISSUE | 238296225 | 238296827 | 238296536 | 238296536 | Missense_Mutation | A | T | p.F334Y |
| SNU1040_LARGE_INTESTINE | 238296225 | 238296827 | 238296564 | 238296564 | Missense_Mutation | C | T | p.A325T |
| MFE296_ENDOMETRIUM | 238296225 | 238296827 | 238296569 | 238296569 | Missense_Mutation | C | T | p.G323D |
| HEC251_ENDOMETRIUM | 238296225 | 238296827 | 238296600 | 238296600 | Missense_Mutation | C | T | p.G313R |
| OCUM1_STOMACH | 238296225 | 238296827 | 238296675 | 238296675 | Missense_Mutation | C | T | p.D288N |
| SKMEL2_SKIN | 238296225 | 238296827 | 238296780 | 238296780 | Missense_Mutation | T | C | p.T253A |
| RKO_LARGE_INTESTINE | 238303230 | 238303847 | 238303278 | 238303278 | Missense_Mutation | C | T | p.V221M |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 238303230 | 238303847 | 238303278 | 238303278 | Missense_Mutation | C | A | p.V221L |
| MEL202_EYE | 238303230 | 238303847 | 238303300 | 238303300 | Missense_Mutation | T | A | p.L213F |
| NCIH740_LUNG | 238303230 | 238303847 | 238303300 | 238303300 | Missense_Mutation | T | A | p.L213F |
| HUO3N1_BONE | 238303230 | 238303847 | 238303320 | 238303320 | Missense_Mutation | G | A | p.H207Y |
| NCIH716_LARGE_INTESTINE | 238303230 | 238303847 | 238303352 | 238303352 | Missense_Mutation | T | C | p.H196R |
| KM12_LARGE_INTESTINE | 238303230 | 238303847 | 238303354 | 238303354 | Missense_Mutation | C | T | p.M195I |
| SHP77_LUNG | 238303230 | 238303847 | 238303530 | 238303530 | Missense_Mutation | G | A | p.R137W |
| HT115_LARGE_INTESTINE | 238303230 | 238303847 | 238303580 | 238303580 | Missense_Mutation | T | G | p.K120T |
| HEC1A_ENDOMETRIUM | 238303230 | 238303847 | 238303689 | 238303689 | Missense_Mutation | T | C | p.N84D |
| HEC1_ENDOMETRIUM | 238303230 | 238303847 | 238303689 | 238303689 | Missense_Mutation | T | C | p.N84D |
| BECKER_CENTRAL_NERVOUS_SYSTEM | 238249095 | 238249793 | 238249483 | 238249483 | Nonsense_Mutation | A | C | p.Y2692* |
| IMR5_AUTONOMIC_GANGLIA | 238249095 | 238249793 | 238249786 | 238249786 | Nonsense_Mutation | G | T | p.C2591* |
| MCC26_SKIN | 238289558 | 238290142 | 238289690 | 238289690 | Nonsense_Mutation | G | A | p.Q589* |
| D247MG_CENTRAL_NERVOUS_SYSTEM | 238296225 | 238296827 | 238296699 | 238296699 | Nonsense_Mutation | G | A | p.R280* |
| HCC2998_LARGE_INTESTINE | 238303230 | 238303847 | 238303380 | 238303380 | Nonsense_Mutation | C | A | p.E187* |
| SNU81_LARGE_INTESTINE | 238303230 | 238303847 | 238303761 | 238303761 | Nonsense_Mutation | C | A | p.E60* |
| WM2664_SKIN | 238242093 | 238242191 | 238242190 | 238242190 | Splice_Site | C | G | p.K3077N |
| SNU5_STOMACH | 238253584 | 238253595 | 238253585 | 238253585 | Splice_Site | G | A | p.Y2391Y |
| SNU1040_LARGE_INTESTINE | 238267164 | 238267226 | 238267164 | 238267164 | Splice_Site | C | T | p.P2157P |
| SCS214_SOFT_TISSUE | 238267164 | 238267226 | 238267165 | 238267165 | Splice_Site | G | A | p.P2157L |
| IGR1_SKIN | 238289558 | 238290142 | 238290141 | 238290141 | Splice_Site | G | A | p.V438V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COL6A3 |
| 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_347528 | 2 | 238275329:238275929:238277205:238277820:238280374:238280980 | 238277205:238277820 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 | MESO | rs2645774 | chr2:238277573 | C/A | 1.81e-06 |
| exon_skip_347528 | 2 | 238275329:238275929:238277205:238277820:238280374:238280980 | 238277205:238277820 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 | MESO | rs2645774 | chr2:238277573 | C/A | 1.94e-06 |
| exon_skip_347508 | 2 | 238242092:238242191:238243268:238243532:238244777:238244823 | 238243268:238243532 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 | HNSC | rs2270671 | chr2:238243285 | G/A | 1.80e-06 |
| exon_skip_347508 | 2 | 238242092:238242191:238243268:238243532:238244777:238244823 | 238243268:238243532 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 | HNSC | rs2270671 | chr2:238243285 | G/A | 1.81e-06 |
| exon_skip_347508 | 2 | 238242092:238242191:238243268:238243532:238244777:238244823 | 238243268:238243532 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 | LUSC | rs2270671 | chr2:238243285 | G/A | 4.80e-04 |
| exon_skip_347508 | 2 | 238242092:238242191:238243268:238243532:238244777:238244823 | 238243268:238243532 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 | LUSC | rs2270671 | chr2:238243285 | G/A | 4.82e-04 |
| exon_skip_347509 | 2 | 238247657:238247760:238249094:238249793:238250707:238250804 | 238249094:238249793 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 | BRCA | rs4433949 | chr2:238249630 | C/T | 2.28e-04 |
| exon_skip_347509 | 2 | 238247657:238247760:238249094:238249793:238250707:238250804 | 238249094:238249793 | ENST00000353578.4,ENST00000295550.4,ENST00000409809.1,ENST00000491769.1,ENST00000472056.1,ENST00000346358.4,ENST00000347401.3 | BRCA | rs4433949 | chr2:238249630 | C/T | 2.32e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL6A3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL6A3 |
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RelatedDrugs for COL6A3 |
| 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 COL6A3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| COL6A3 | C1834674 | Bethlem myopathy | 4 | CTD_human;ORPHANET;UNIPROT |
| COL6A3 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| COL6A3 | C0410179 | Scleroatonic muscular dystrophy | 1 | CTD_human;ORPHANET;UNIPROT |
| COL6A3 | C4225336 | DYSTONIA 27 | 1 | ORPHANET;UNIPROT |
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