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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 SETD2 |
 Gene summary |
| Gene information | Gene symbol | SETD2 | Gene ID | 29072 |
| Gene name | SET domain containing 2 | |
| Synonyms | HBP231|HIF-1|HIP-1|HSPC069|HYPB|KMT3A|LLS|SET2|p231HBP | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | histone-lysine N-methyltransferase SETD2huntingtin interacting protein 1huntingtin yeast partner Bhuntingtin-interacting protein Blysine N-methyltransferase 3Aprotein-lysine N-methyltransferase SETD2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9BYW2 | |
| Context | PubMed: SETD2 [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 |
| SETD2 | GO:0010569 | regulation of double-strand break repair via homologous recombination | 24843002 |
| SETD2 | GO:0018023 | peptidyl-lysine trimethylation | 27518565 |
| SETD2 | GO:0018026 | peptidyl-lysine monomethylation | 28753426 |
| SETD2 | GO:0032465 | regulation of cytokinesis | 27518565 |
| SETD2 | GO:0032727 | positive regulation of interferon-alpha production | 28753426 |
| SETD2 | GO:0034340 | response to type I interferon | 28753426 |
| SETD2 | GO:0051607 | defense response to virus | 28753426 |
| SETD2 | GO:0097198 | histone H3-K36 trimethylation | 23043551|24843002|26002201|27474439|28753426 |
| SETD2 | GO:0097676 | histone H3-K36 dimethylation | 26002201 |
| SETD2 | GO:1902850 | microtubule cytoskeleton organization involved in mitosis | 27518565 |
| SETD2 | GO:1905634 | regulation of protein localization to chromatin | 24843002 |
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Exon skipping events across known transcript of Ensembl for SETD2 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 SETD2 |
| 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 SETD2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_383033 | 3 | 47059127:47059229:47061249:47061330:47079155:47079267 | 47061249:47061330 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3,ENST00000431180.1,ENST00000330022.7 |
| exon_skip_383037 | 3 | 47084050:47084190:47087976:47088111:47098310:47098980 | 47087976:47088111 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3,ENST00000431180.1,ENST00000330022.7 |
| exon_skip_383038 | 3 | 47087976:47088111:47098310:47098980:47103652:47103836 | 47098310:47098980 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3,ENST00000431180.1,ENST00000330022.7 |
| exon_skip_383047 | 3 | 47098310:47098980:47103652:47103836:47108559:47108608 | 47103652:47103836 | ENSG00000181555.15 | ENST00000409792.3,ENST00000431180.1,ENST00000330022.7 |
| exon_skip_383049 | 3 | 47103652:47103836:47106044:47106120:47108559:47108608 | 47106044:47106120 | ENSG00000181555.15 | ENST00000445387.1 |
| exon_skip_383052 | 3 | 47103652:47103836:47108559:47108608:47125209:47125436 | 47108559:47108608 | ENSG00000181555.15 | ENST00000409792.3,ENST00000330022.7 |
| exon_skip_383060 | 3 | 47108559:47108608:47122290:47122573:47125209:47125436 | 47122290:47122573 | ENSG00000181555.15 | ENST00000492397.1 |
| exon_skip_383064 | 3 | 47108559:47108608:47122405:47122573:47125209:47125436 | 47122405:47122573 | ENSG00000181555.15 | ENST00000431180.1 |
| exon_skip_383065 | 3 | 47108559:47108608:47125209:47125872:47127684:47127804 | 47125209:47125872 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3,ENST00000330022.7 |
| exon_skip_383075 | 3 | 47125209:47125872:47127684:47127804:47129602:47129737 | 47127684:47127804 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3,ENST00000431180.1,ENST00000330022.7 |
| exon_skip_383079 | 3 | 47127684:47127804:47129602:47129737:47139444:47139571 | 47129602:47129737 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3,ENST00000431180.1,ENST00000330022.7 |
| exon_skip_383081 | 3 | 47139444:47139571:47142947:47143045:47144835:47144913 | 47142947:47143045 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3,ENST00000431180.1,ENST00000330022.7 |
| exon_skip_383087 | 3 | 47142947:47143045:47144835:47144913:47147486:47147610 | 47144835:47144913 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383088 | 3 | 47144835:47144913:47147486:47147610:47155365:47155494 | 47147486:47147610 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383089 | 3 | 47158112:47158244:47160941:47161270:47161671:47165740 | 47160941:47161270 | ENSG00000181555.15 | ENST00000330022.7 |
| exon_skip_383093 | 3 | 47161972:47166038:47168137:47168153:47205343:47205457 | 47168137:47168153 | ENSG00000181555.15 | ENST00000409792.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SETD2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_383033 | 3 | 47059127:47059229:47061249:47061330:47079155:47079267 | 47061249:47061330 | ENSG00000181555.15 | ENST00000431180.1,ENST00000330022.7,ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383037 | 3 | 47084050:47084190:47087976:47088111:47098310:47098980 | 47087976:47088111 | ENSG00000181555.15 | ENST00000431180.1,ENST00000330022.7,ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383038 | 3 | 47087976:47088111:47098310:47098980:47103652:47103836 | 47098310:47098980 | ENSG00000181555.15 | ENST00000431180.1,ENST00000330022.7,ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383047 | 3 | 47098310:47098980:47103652:47103836:47108559:47108608 | 47103652:47103836 | ENSG00000181555.15 | ENST00000431180.1,ENST00000330022.7,ENST00000409792.3 |
| exon_skip_383049 | 3 | 47103652:47103836:47106044:47106120:47108559:47108608 | 47106044:47106120 | ENSG00000181555.15 | ENST00000445387.1 |
| exon_skip_383052 | 3 | 47103652:47103836:47108559:47108608:47125209:47125436 | 47108559:47108608 | ENSG00000181555.15 | ENST00000330022.7,ENST00000409792.3 |
| exon_skip_383060 | 3 | 47108559:47108608:47122290:47122573:47125209:47125436 | 47122290:47122573 | ENSG00000181555.15 | ENST00000492397.1 |
| exon_skip_383064 | 3 | 47108559:47108608:47122405:47122573:47125209:47125436 | 47122405:47122573 | ENSG00000181555.15 | ENST00000431180.1 |
| exon_skip_383065 | 3 | 47108559:47108608:47125209:47125872:47127684:47127804 | 47125209:47125872 | ENSG00000181555.15 | ENST00000330022.7,ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383075 | 3 | 47125209:47125872:47127684:47127804:47129602:47129737 | 47127684:47127804 | ENSG00000181555.15 | ENST00000431180.1,ENST00000330022.7,ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383079 | 3 | 47127684:47127804:47129602:47129737:47139444:47139571 | 47129602:47129737 | ENSG00000181555.15 | ENST00000431180.1,ENST00000330022.7,ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383081 | 3 | 47139444:47139571:47142947:47143045:47144835:47144913 | 47142947:47143045 | ENSG00000181555.15 | ENST00000431180.1,ENST00000330022.7,ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383087 | 3 | 47142947:47143045:47144835:47144913:47147486:47147610 | 47144835:47144913 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383088 | 3 | 47144835:47144913:47147486:47147610:47155365:47155494 | 47147486:47147610 | ENSG00000181555.15 | ENST00000445387.1,ENST00000409792.3 |
| exon_skip_383089 | 3 | 47158112:47158244:47160941:47161270:47161671:47165740 | 47160941:47161270 | ENSG00000181555.15 | ENST00000330022.7 |
| exon_skip_383093 | 3 | 47161972:47166038:47168137:47168153:47205343:47205457 | 47168137:47168153 | ENSG00000181555.15 | ENST00000409792.3 |
| 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 SETD2 |
| 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 |
| ENST00000409792 | 47098310 | 47098980 | Frame-shift |
| ENST00000409792 | 47103652 | 47103836 | Frame-shift |
| ENST00000409792 | 47108559 | 47108608 | Frame-shift |
| ENST00000409792 | 47142947 | 47143045 | Frame-shift |
| ENST00000409792 | 47147486 | 47147610 | Frame-shift |
| ENST00000409792 | 47168137 | 47168153 | Frame-shift |
| ENST00000409792 | 47061249 | 47061330 | In-frame |
| ENST00000409792 | 47087976 | 47088111 | In-frame |
| ENST00000409792 | 47125209 | 47125872 | In-frame |
| ENST00000409792 | 47127684 | 47127804 | In-frame |
| ENST00000409792 | 47129602 | 47129737 | In-frame |
| ENST00000409792 | 47144835 | 47144913 | 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 |
| ENST00000409792 | 47098310 | 47098980 | Frame-shift |
| ENST00000409792 | 47103652 | 47103836 | Frame-shift |
| ENST00000409792 | 47108559 | 47108608 | Frame-shift |
| ENST00000409792 | 47142947 | 47143045 | Frame-shift |
| ENST00000409792 | 47147486 | 47147610 | Frame-shift |
| ENST00000409792 | 47168137 | 47168153 | Frame-shift |
| ENST00000409792 | 47061249 | 47061330 | In-frame |
| ENST00000409792 | 47087976 | 47088111 | In-frame |
| ENST00000409792 | 47125209 | 47125872 | In-frame |
| ENST00000409792 | 47127684 | 47127804 | In-frame |
| ENST00000409792 | 47129602 | 47129737 | In-frame |
| ENST00000409792 | 47144835 | 47144913 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SETD2 |
| 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 |
| ENST00000409792 | 8159 | 2564 | 47144835 | 47144913 | 4883 | 4960 | 1613 | 1639 |
| ENST00000409792 | 8159 | 2564 | 47129602 | 47129737 | 5186 | 5320 | 1714 | 1759 |
| ENST00000409792 | 8159 | 2564 | 47127684 | 47127804 | 5321 | 5440 | 1759 | 1799 |
| ENST00000409792 | 8159 | 2564 | 47125209 | 47125872 | 5441 | 6103 | 1799 | 2020 |
| ENST00000409792 | 8159 | 2564 | 47087976 | 47088111 | 7007 | 7141 | 2321 | 2366 |
| ENST00000409792 | 8159 | 2564 | 47061249 | 47061330 | 7394 | 7474 | 2450 | 2477 |
| 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 |
| ENST00000409792 | 8159 | 2564 | 47144835 | 47144913 | 4883 | 4960 | 1613 | 1639 |
| ENST00000409792 | 8159 | 2564 | 47129602 | 47129737 | 5186 | 5320 | 1714 | 1759 |
| ENST00000409792 | 8159 | 2564 | 47127684 | 47127804 | 5321 | 5440 | 1759 | 1799 |
| ENST00000409792 | 8159 | 2564 | 47125209 | 47125872 | 5441 | 6103 | 1799 | 2020 |
| ENST00000409792 | 8159 | 2564 | 47087976 | 47088111 | 7007 | 7141 | 2321 | 2366 |
| ENST00000409792 | 8159 | 2564 | 47061249 | 47061330 | 7394 | 7474 | 2450 | 2477 |
| 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 SETD2 |
| - 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. |
SETD2_BRCA_exon_skip_383038_psi_boxplot.png |
SETD2_KIRC_exon_skip_383033_psi_boxplot.png |
SETD2_KIRC_exon_skip_383038_psi_boxplot.png |
SETD2_KIRP_exon_skip_383033_psi_boxplot.png |
SETD2_KIRP_exon_skip_383038_psi_boxplot.png |
SETD2_LGG_exon_skip_383038_psi_boxplot.png |
SETD2_LGG_exon_skip_383047_psi_boxplot.png |
SETD2_LIHC_exon_skip_383047_psi_boxplot.png |
SETD2_LUAD_exon_skip_383038_psi_boxplot.png |
SETD2_LUSC_exon_skip_383079_psi_boxplot.png |
SETD2_OV_exon_skip_383038_psi_boxplot.png |
SETD2_SKCM_exon_skip_383038_psi_boxplot.png |
SETD2_STAD_exon_skip_383047_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 |
| KIRC | TCGA-B0-5690-01 | exon_skip_383033 | 47061250 | 47061330 | 47061248 | 47061263 | Frame_Shift_Del | AACCTTACCTCTTTTC | - | p.2475_2477del |
| KIRC | TCGA-DV-A4VX-01 | exon_skip_383038 | 47098311 | 47098980 | 47098386 | 47098387 | Frame_Shift_Del | AT | - | p.2296_2297del |
| BRCA | TCGA-D8-A1X8-01 | exon_skip_383038 | 47098311 | 47098980 | 47098494 | 47098498 | Frame_Shift_Del | CGGCA | - | p.V2259fs |
| BRCA | TCGA-D8-A1X8-01 | exon_skip_383038 | 47098311 | 47098980 | 47098502 | 47098509 | Frame_Shift_Del | GCAAGACA | - | p.V2256fs |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_383038 | 47098311 | 47098980 | 47098859 | 47098859 | Frame_Shift_Del | G | - | p.Q2139fs |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_383038 | 47098311 | 47098980 | 47098859 | 47098859 | Frame_Shift_Del | G | - | p.Q2206fs |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_383038 | 47098311 | 47098980 | 47098859 | 47098860 | Frame_Shift_Del | GC | - | p.2139_2139del |
| STAD | TCGA-CG-5726-01 | exon_skip_383047 | 47103653 | 47103836 | 47103666 | 47103666 | Frame_Shift_Del | T | - | p.R2094fs |
| STAD | TCGA-CG-5726-01 | exon_skip_383047 | 47103653 | 47103836 | 47103666 | 47103666 | Frame_Shift_Del | T | - | p.R2161fs |
| LGG | TCGA-DH-5140-01 | exon_skip_383047 | 47103653 | 47103836 | 47103668 | 47103705 | Frame_Shift_Del | TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG | - | p.LSPPSSAYERGTK2081fs |
| UCEC | TCGA-BS-A0UM-01 | exon_skip_383047 | 47103653 | 47103836 | 47103755 | 47103756 | Frame_Shift_Del | TC | - | p.D2131fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_383047 | 47103653 | 47103836 | 47103806 | 47103806 | Frame_Shift_Del | A | - | p.F2047fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_383052 | 47108560 | 47108608 | 47108584 | 47108584 | Frame_Shift_Del | T | - | p.S2029fs |
| KIRC | TCGA-CJ-4882-01 | exon_skip_383065 | 47125210 | 47125872 | 47125260 | 47125260 | Frame_Shift_Del | C | - | p.D2004fs |
| MESO | TCGA-3H-AB3U-01 | exon_skip_383065 | 47125210 | 47125872 | 47125275 | 47125276 | Frame_Shift_Del | GC | - | p.QP1998fs |
| KIRC | TCGA-B8-4620-01 | exon_skip_383065 | 47125210 | 47125872 | 47125280 | 47125289 | Frame_Shift_Del | TCTTGGCTCC | - | p.1994_1997del |
| KIRC | TCGA-B8-4620-01 | exon_skip_383065 | 47125210 | 47125872 | 47125280 | 47125289 | Frame_Shift_Del | TCTTGGCTCC | - | p.RSQE1994fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_383065 | 47125210 | 47125872 | 47125556 | 47125556 | Frame_Shift_Del | C | - | p.G1905fs |
| KIRC | TCGA-BP-4963-01 | exon_skip_383065 | 47125210 | 47125872 | 47125643 | 47125653 | Frame_Shift_Del | AGTTTCTTGGG | - | p.1873_1876del |
| KIRC | TCGA-BP-4963-01 | exon_skip_383065 | 47125210 | 47125872 | 47125643 | 47125653 | Frame_Shift_Del | AGTTTCTTGGG | - | p.PKKL1873fs |
| LUAD | TCGA-55-6986-01 | exon_skip_383065 | 47125210 | 47125872 | 47125651 | 47125651 | Frame_Shift_Del | G | - | p.P1873fs |
| KIRC | TCGA-CJ-4920-01 | exon_skip_383065 | 47125210 | 47125872 | 47125684 | 47125684 | Frame_Shift_Del | G | - | p.K1863fs |
| KIRC | TCGA-CJ-4920-01 | exon_skip_383065 | 47125210 | 47125872 | 47125684 | 47125684 | Frame_Shift_Del | G | - | p.T1862fs |
| KIRC | TCGA-A3-3308-01 | exon_skip_383065 | 47125210 | 47125872 | 47125805 | 47125805 | Frame_Shift_Del | G | - | p.P1822fs |
| COAD | TCGA-AD-6889-01 | exon_skip_383065 | 47125210 | 47125872 | 47125832 | 47125832 | Frame_Shift_Del | T | - | p.N1813fs |
| PRAD | TCGA-V1-A9Z9-01 | exon_skip_383075 | 47127685 | 47127804 | 47127717 | 47127721 | Frame_Shift_Del | CGTCA | - | p.GDG1787fs |
| KIRC | TCGA-B0-4811-01 | exon_skip_383075 | 47127685 | 47127804 | 47127749 | 47127749 | Frame_Shift_Del | A | - | p.L1778fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_383081 | 47142948 | 47143045 | 47143007 | 47143007 | Frame_Shift_Del | G | - | p.T1653fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_383081 | 47142948 | 47143045 | 47143010 | 47143010 | Frame_Shift_Del | A | - | p.F1651fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_383081 | 47142948 | 47143045 | 47143010 | 47143010 | Frame_Shift_Del | A | - | p.T1652fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_383081 | 47142948 | 47143045 | 47143010 | 47143010 | Frame_Shift_Del | A | - | p.F1651fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_383088 | 47147487 | 47147610 | 47147509 | 47147509 | Frame_Shift_Del | A | - | p.F1606fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_383088 | 47147487 | 47147610 | 47147524 | 47147524 | Frame_Shift_Del | T | - | p.N1601fs |
| LGG | TCGA-DH-A669-01 | exon_skip_383037 | 47087977 | 47088111 | 47088034 | 47088035 | Frame_Shift_Ins | - | TGTA | p.P2347fs |
| LGG | TCGA-DH-A669-02 | exon_skip_383037 | 47087977 | 47088111 | 47088034 | 47088035 | Frame_Shift_Ins | - | TGTA | p.P2347fs |
| KIRC | TCGA-BP-4983-01 | exon_skip_383038 | 47098311 | 47098980 | 47098412 | 47098413 | Frame_Shift_Ins | - | AT | p.C2288fs |
| KIRC | TCGA-BP-4983-01 | exon_skip_383038 | 47098311 | 47098980 | 47098412 | 47098413 | Frame_Shift_Ins | - | AT | p.P2288fs |
| BRCA | TCGA-D8-A1X8-01 | exon_skip_383038 | 47098311 | 47098980 | 47098494 | 47098495 | Frame_Shift_Ins | - | T | p.A2261fs |
| LUAD | TCGA-86-7714-01 | exon_skip_383038 | 47098311 | 47098980 | 47098880 | 47098881 | Frame_Shift_Ins | - | T | p.Q2131fs |
| LUAD | TCGA-86-7714-01 | exon_skip_383038 | 47098311 | 47098980 | 47098880 | 47098881 | Frame_Shift_Ins | - | T | p.QG2131fs |
| STAD | TCGA-F1-6177-01 | exon_skip_383047 | 47103653 | 47103836 | 47103754 | 47103755 | Frame_Shift_Ins | - | TC | p.D2064fs |
| STAD | TCGA-F1-6177-01 | exon_skip_383047 | 47103653 | 47103836 | 47103755 | 47103756 | Frame_Shift_Ins | - | TC | p.D2131fs |
| CHOL | TCGA-ZH-A8Y4-01 | exon_skip_383065 | 47125210 | 47125872 | 47125234 | 47125235 | Frame_Shift_Ins | - | A | p.L2012fs |
| CHOL | TCGA-ZH-A8Y4-01 | exon_skip_383065 | 47125210 | 47125872 | 47125234 | 47125235 | Frame_Shift_Ins | - | A | p.P2012fs |
| KIRP | TCGA-BQ-5876-01 | exon_skip_383065 | 47125210 | 47125872 | 47125642 | 47125643 | Frame_Shift_Ins | - | A | p.L1876fs |
| MESO | TCGA-MQ-A6BS-01 | exon_skip_383079 | 47129603 | 47129737 | 47129622 | 47129623 | Frame_Shift_Ins | - | T | p.L1753fs |
| LUAD | TCGA-05-4425-01 | exon_skip_383081 | 47142948 | 47143045 | 47143009 | 47143010 | Frame_Shift_Ins | - | A | p.F1651fs |
| STAD | TCGA-BR-4280-01 | exon_skip_383081 | 47142948 | 47143045 | 47143009 | 47143010 | Frame_Shift_Ins | - | A | p.T1652fs |
| STAD | TCGA-BR-4280-01 | exon_skip_383081 | 47142948 | 47143045 | 47143010 | 47143011 | Frame_Shift_Ins | - | A | p.F1718fs |
| KIRP | TCGA-BQ-5875-01 | exon_skip_383033 | 47061250 | 47061330 | 47061276 | 47061276 | Nonsense_Mutation | T | A | p.K2469* |
| KIRP | TCGA-BQ-5875-01 | exon_skip_383033 | 47061250 | 47061330 | 47061276 | 47061276 | Nonsense_Mutation | T | A | p.K2469X |
| KIRP | TCGA-BQ-5875-01 | exon_skip_383033 | 47061250 | 47061330 | 47061276 | 47061276 | Nonsense_Mutation | T | A | p.K2536* |
| LGG | TCGA-FG-6688-01 | exon_skip_383038 | 47098311 | 47098980 | 47098400 | 47098400 | Nonsense_Mutation | G | A | p.Q2292* |
| LGG | TCGA-FG-6688-01 | exon_skip_383038 | 47098311 | 47098980 | 47098400 | 47098400 | Nonsense_Mutation | G | A | p.Q2292X |
| COAD | TCGA-AA-3525-01 | exon_skip_383038 | 47098311 | 47098980 | 47098427 | 47098427 | Nonsense_Mutation | G | A | p.Q2283X |
| SKCM | TCGA-EE-A2MN-06 | exon_skip_383038 | 47098311 | 47098980 | 47098526 | 47098526 | Nonsense_Mutation | G | A | p.Q2250* |
| SKCM | TCGA-EE-A2MN-06 | exon_skip_383038 | 47098311 | 47098980 | 47098526 | 47098526 | Nonsense_Mutation | G | A | p.Q2250X |
| MESO | TCGA-ZN-A9VV-01 | exon_skip_383038 | 47098311 | 47098980 | 47098559 | 47098559 | Nonsense_Mutation | G | A | p.Q2239* |
| OV | TCGA-24-2290-01 | exon_skip_383038 | 47098311 | 47098980 | 47098746 | 47098746 | Nonsense_Mutation | A | T | p.Y2243* |
| MESO | TCGA-TS-A7PB-01 | exon_skip_383038 | 47098311 | 47098980 | 47098850 | 47098850 | Nonsense_Mutation | G | A | p.Q2142* |
| KIRC | TCGA-CJ-5682-01 | exon_skip_383038 | 47098311 | 47098980 | 47098903 | 47098903 | Nonsense_Mutation | A | T | p.L2124X |
| LUAD | TCGA-97-7941-01 | exon_skip_383047 | 47103653 | 47103836 | 47103738 | 47103738 | Nonsense_Mutation | G | A | p.Q2070* |
| LUAD | TCGA-67-6216-01 | exon_skip_383047 | 47103653 | 47103836 | 47103747 | 47103747 | Nonsense_Mutation | T | A | p.K2067* |
| LGG | TCGA-HT-7684-01 | exon_skip_383047 | 47103653 | 47103836 | 47103767 | 47103767 | Nonsense_Mutation | G | C | p.S2060* |
| LGG | TCGA-HT-7684-01 | exon_skip_383047 | 47103653 | 47103836 | 47103767 | 47103767 | Nonsense_Mutation | G | C | p.S2060X |
| PRAD | TCGA-H9-A6BX-01 | exon_skip_383047 | 47103653 | 47103836 | 47103828 | 47103828 | Nonsense_Mutation | G | A | p.R2040* |
| UVM | TCGA-V4-A9EM-01 | exon_skip_383047 | 47103653 | 47103836 | 47103828 | 47103828 | Nonsense_Mutation | G | A | p.R2040* |
| UVM | TCGA-V4-A9EM-01 | exon_skip_383047 | 47103653 | 47103836 | 47103828 | 47103828 | Nonsense_Mutation | G | A | p.R2040X |
| COAD | TCGA-A6-5665-01 | exon_skip_383052 | 47108560 | 47108608 | 47108599 | 47108599 | Nonsense_Mutation | G | A | p.R2024X |
| BLCA | TCGA-DK-A1A7-01 | exon_skip_383065 | 47125210 | 47125872 | 47125299 | 47125299 | Nonsense_Mutation | C | A | p.E1991* |
| KIRC | TCGA-BP-5169-01 | exon_skip_383065 | 47125210 | 47125872 | 47125380 | 47125380 | Nonsense_Mutation | C | A | p.E1964* |
| KIRC | TCGA-BP-5169-01 | exon_skip_383065 | 47125210 | 47125872 | 47125380 | 47125380 | Nonsense_Mutation | C | A | p.E1964X |
| LUAD | TCGA-MP-A4SY-01 | exon_skip_383065 | 47125210 | 47125872 | 47125821 | 47125821 | Nonsense_Mutation | C | A | p.E1817* |
| STAD | TCGA-R5-A7ZE-01 | exon_skip_383075 | 47127685 | 47127804 | 47127693 | 47127693 | Nonsense_Mutation | G | A | p.Q1797* |
| STAD | TCGA-R5-A7ZE-01 | exon_skip_383075 | 47127685 | 47127804 | 47127693 | 47127693 | Nonsense_Mutation | G | A | p.Q1797X |
| KIRC | TCGA-CJ-5676-01 | exon_skip_383075 | 47127685 | 47127804 | 47127736 | 47127736 | Nonsense_Mutation | C | T | p.W1782X |
| KIRC | TCGA-B0-5399-01 | exon_skip_383075 | 47127685 | 47127804 | 47127737 | 47127737 | Nonsense_Mutation | C | T | p.W1782X |
| LUSC | TCGA-66-2786-01 | exon_skip_383079 | 47129603 | 47129737 | 47129614 | 47129614 | Nonsense_Mutation | C | A | p.E1823* |
| KIRC | TCGA-B2-4101-01 | exon_skip_383079 | 47129603 | 47129737 | 47129722 | 47129722 | Nonsense_Mutation | C | A | p.E1720* |
| KIRC | TCGA-B2-4101-01 | exon_skip_383079 | 47129603 | 47129737 | 47129722 | 47129722 | Nonsense_Mutation | C | A | p.E1720X |
| BLCA | TCGA-4Z-AA86-01 | exon_skip_383081 | 47142948 | 47143045 | 47142964 | 47142964 | Nonsense_Mutation | G | A | p.Q1667* |
| BLCA | TCGA-DK-A6B6-01 | exon_skip_383081 | 47142948 | 47143045 | 47142964 | 47142964 | Nonsense_Mutation | G | A | p.Q1667* |
| LUAD | TCGA-50-5942-01 | exon_skip_383081 | 47142948 | 47143045 | 47142964 | 47142964 | Nonsense_Mutation | G | A | p.Q1667* |
| SKCM | TCGA-FS-A1ZZ-06 | exon_skip_383081 | 47142948 | 47143045 | 47143033 | 47143033 | Nonsense_Mutation | C | A | p.G1644X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_383088 | 47147487 | 47147610 | 47147496 | 47147496 | Nonsense_Mutation | C | A | p.E1244* |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_383088 | 47147487 | 47147610 | 47147552 | 47147552 | Nonsense_Mutation | G | A | p.R1592* |
| KIRC | TCGA-A3-3367-01 | exon_skip_383033 | 47061250 | 47061330 | 47061248 | 47061258 | Splice_Site | CCAAACCTTAC | - | . |
| KIRC | TCGA-B0-4821-01 | exon_skip_383052 | 47108560 | 47108608 | 47108558 | 47108559 | Splice_Site | - | CT | . |
| UCEC | TCGA-AP-A056-01 | exon_skip_383075 | 47127685 | 47127804 | 47127805 | 47127805 | Splice_Site | C | A | e11-1 |
| STAD | TCGA-BR-8589-01 | exon_skip_383081 | 47142948 | 47143045 | 47142946 | 47142946 | Splice_Site | A | G | . |
| STAD | TCGA-BR-8589-01 | exon_skip_383081 | 47142948 | 47143045 | 47142946 | 47142946 | Splice_Site | A | G | p.G1672_splice |
| BLCA | TCGA-DK-A1AB-01 | exon_skip_383081 | 47142948 | 47143045 | 47142947 | 47142947 | Splice_Site | C | T | p.G1672_splice |
| KIRP | TCGA-BQ-5890-01 | exon_skip_383081 | 47142948 | 47143045 | 47143047 | 47143047 | Splice_Site | T | C | . |
| KIRP | TCGA-BQ-5890-01 | exon_skip_383081 | 47142948 | 47143045 | 47143047 | 47143047 | Splice_Site | T | C | p.W1707_splice |
| GBM | TCGA-26-5134-01 | exon_skip_383088 | 47147487 | 47147610 | 47147485 | 47147485 | Splice_Site | A | G | p.E1602_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-66-2786-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_383079 | |
| Skipped exon start: 47129603 | |
| Skipped exon end: 47129737 | |
| Mutation start: 47129614 | |
| Mutation end: 47129614 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E1823* | |
exon_skip_383079_LUSC_TCGA-66-2786-01.png | |
exon_skip_449061_LUSC_TCGA-66-2786-01.png | |
 | Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_383047 | |
| Skipped exon start: 47103653 | |
| Skipped exon end: 47103836 | |
| Mutation start: 47103754 | |
| Mutation end: 47103755 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: TC | |
| AAchange: p.D2064fs | |
| Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_383047 | |
| Skipped exon start: 47103653 | |
| Skipped exon end: 47103836 | |
| Mutation start: 47103755 | |
| Mutation end: 47103756 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: TC | |
| AAchange: p.D2131fs | |
exon_skip_105325_STAD_TCGA-F1-6177-01.png | |
exon_skip_105326_STAD_TCGA-F1-6177-01.png | |
exon_skip_285856_STAD_TCGA-F1-6177-01.png | |
exon_skip_303345_STAD_TCGA-F1-6177-01.png | |
exon_skip_319572_STAD_TCGA-F1-6177-01.png | |
exon_skip_332544_STAD_TCGA-F1-6177-01.png | |
exon_skip_377238_STAD_TCGA-F1-6177-01.png | |
exon_skip_383047_STAD_TCGA-F1-6177-01.png | |
exon_skip_423141_STAD_TCGA-F1-6177-01.png | |
exon_skip_423142_STAD_TCGA-F1-6177-01.png | |
exon_skip_470537_STAD_TCGA-F1-6177-01.png | |
exon_skip_477308_STAD_TCGA-F1-6177-01.png | |
exon_skip_494000_STAD_TCGA-F1-6177-01.png | |
exon_skip_74586_STAD_TCGA-F1-6177-01.png | |
exon_skip_77151_STAD_TCGA-F1-6177-01.png | |
exon_skip_77155_STAD_TCGA-F1-6177-01.png | |
exon_skip_9828_STAD_TCGA-F1-6177-01.png | |
 | Sample: TCGA-24-2290-01 |
| Cancer type: OV | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098746 | |
| Mutation end: 47098746 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: A | |
| Mutation seq: T | |
| AAchange: p.Y2243* | |
exon_skip_383038_OV_TCGA-24-2290-01.png | |
 | Sample: TCGA-EE-A2MN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098526 | |
| Mutation end: 47098526 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q2250X | |
| Sample: TCGA-EE-A2MN-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098526 | |
| Mutation end: 47098526 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q2250* | |
exon_skip_383038_SKCM_TCGA-EE-A2MN-06.png | |
 | Sample: TCGA-D8-A1X8-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098494 | |
| Mutation end: 47098498 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CGGCA | |
| Mutation seq: - | |
| AAchange: p.V2259fs | |
| Sample: TCGA-D8-A1X8-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098502 | |
| Mutation end: 47098509 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GCAAGACA | |
| Mutation seq: - | |
| AAchange: p.V2256fs | |
| Sample: TCGA-D8-A1X8-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098494 | |
| Mutation end: 47098495 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.A2261fs | |
exon_skip_383038_BRCA_TCGA-D8-A1X8-01.png | |
 | Sample: TCGA-BP-4983-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098412 | |
| Mutation end: 47098413 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: AT | |
| AAchange: p.P2288fs | |
| Sample: TCGA-BP-4983-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098412 | |
| Mutation end: 47098413 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: AT | |
| AAchange: p.C2288fs | |
exon_skip_383038_KIRC_TCGA-BP-4983-01.png | |
 | Sample: TCGA-A4-A5Y1-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098859 | |
| Mutation end: 47098859 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q2139fs | |
| Sample: TCGA-A4-A5Y1-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098859 | |
| Mutation end: 47098860 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GC | |
| Mutation seq: - | |
| AAchange: p.2139_2139del | |
| Sample: TCGA-A4-A5Y1-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_383038 | |
| Skipped exon start: 47098311 | |
| Skipped exon end: 47098980 | |
| Mutation start: 47098859 | |
| Mutation end: 47098859 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q2206fs | |
exon_skip_383038_KIRP_TCGA-A4-A5Y1-01.png | |
 | Sample: TCGA-A3-3367-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_383033 | |
| Skipped exon start: 47061250 | |
| Skipped exon end: 47061330 | |
| Mutation start: 47061248 | |
| Mutation end: 47061258 | |
| Mutation type: Splice_Site | |
| Reference seq: CCAAACCTTAC | |
| Mutation seq: - | |
| AAchange: . | |
exon_skip_383033_KIRC_TCGA-A3-3367-01.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 |
| NCIH2804_PLEURA | 47087977 | 47088111 | 47088102 | 47088102 | Frame_Shift_Del | G | - | p.Q2325fs |
| SLR25_KIDNEY | 47098311 | 47098980 | 47098594 | 47098594 | Frame_Shift_Del | G | - | p.P2227fs |
| RCCAB_KIDNEY | 47098311 | 47098980 | 47098880 | 47098880 | Frame_Shift_Del | G | - | p.R2132fs |
| HEC59_ENDOMETRIUM | 47103653 | 47103836 | 47103755 | 47103756 | Frame_Shift_Del | TC | - | p.D2064fs |
| LNCAPCLONEFGC_PROSTATE | 47142948 | 47143045 | 47143010 | 47143010 | Frame_Shift_Del | A | - | p.F1651fs |
| D341MED_CENTRAL_NERVOUS_SYSTEM | 47098311 | 47098980 | 47098487 | 47098488 | Frame_Shift_Ins | - | G | p.G2263fs |
| LU134A_LUNG | 47098311 | 47098980 | 47098641 | 47098642 | Frame_Shift_Ins | - | C | p.G2211fs |
| GCIY_STOMACH | 47108560 | 47108608 | 47108597 | 47108602 | In_Frame_Del | TCGATA | - | p.YR2023del |
| PCI6A_UPPER_AERODIGESTIVE_TRACT | 47144836 | 47144913 | 47144851 | 47144868 | In_Frame_Del | ATTTGGTTCACAGCTGTG | - | p.HSCEPN1629del |
| HT115_LARGE_INTESTINE | 47061250 | 47061330 | 47061322 | 47061322 | Missense_Mutation | T | G | p.K2453N |
| BEN_LUNG | 47087977 | 47088111 | 47087987 | 47087987 | Missense_Mutation | G | C | p.P2363R |
| GP2D_LARGE_INTESTINE | 47087977 | 47088111 | 47088105 | 47088105 | Missense_Mutation | C | T | p.A2324T |
| SNU1040_LARGE_INTESTINE | 47098311 | 47098980 | 47098315 | 47098315 | Missense_Mutation | A | G | p.V2320A |
| WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47098311 | 47098980 | 47098435 | 47098435 | Missense_Mutation | A | G | p.V2280A |
| GP5D_LARGE_INTESTINE | 47098311 | 47098980 | 47098447 | 47098447 | Missense_Mutation | T | C | p.N2276S |
| HS751T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47098311 | 47098980 | 47098504 | 47098504 | Missense_Mutation | A | C | p.L2257W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47098311 | 47098980 | 47098564 | 47098564 | Missense_Mutation | C | T | p.S2237N |
| EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47098311 | 47098980 | 47098571 | 47098571 | Missense_Mutation | C | G | p.V2235L |
| NCIH2135_LUNG | 47098311 | 47098980 | 47098590 | 47098590 | Missense_Mutation | A | C | p.H2228Q |
| NCIH1770_LUNG | 47098311 | 47098980 | 47098821 | 47098822 | Missense_Mutation | GG | AA | p.P2151L |
| NCIH2106_LUNG | 47098311 | 47098980 | 47098822 | 47098822 | Missense_Mutation | G | A | p.P2151L |
| KNS42_CENTRAL_NERVOUS_SYSTEM | 47098311 | 47098980 | 47098912 | 47098912 | Missense_Mutation | C | T | p.R2121H |
| LCLC103H_LUNG | 47098311 | 47098980 | 47098936 | 47098936 | Missense_Mutation | C | T | p.R2113H |
| HEC265_ENDOMETRIUM | 47098311 | 47098980 | 47098951 | 47098951 | Missense_Mutation | A | G | p.V2108A |
| SNU1040_LARGE_INTESTINE | 47103653 | 47103836 | 47103692 | 47103692 | Missense_Mutation | G | A | p.S2085F |
| OMC1_CERVIX | 47103653 | 47103836 | 47103721 | 47103721 | Missense_Mutation | C | G | p.R2075S |
| UMUC1_URINARY_TRACT | 47103653 | 47103836 | 47103743 | 47103743 | Missense_Mutation | T | C | p.Q2068R |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47103653 | 47103836 | 47103800 | 47103800 | Missense_Mutation | T | A | p.D2049V |
| MM127_SKIN | 47103653 | 47103836 | 47103819 | 47103819 | Missense_Mutation | C | T | p.D2043N |
| TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47125210 | 47125872 | 47125398 | 47125398 | Missense_Mutation | C | G | p.A1958P |
| RH18_SOFT_TISSUE | 47125210 | 47125872 | 47125419 | 47125419 | Missense_Mutation | T | C | p.T1951A |
| TE12_OESOPHAGUS | 47125210 | 47125872 | 47125452 | 47125452 | Missense_Mutation | T | C | p.S1940G |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47125210 | 47125872 | 47125551 | 47125551 | Missense_Mutation | C | G | p.E1907Q |
| SCLC22H_LUNG | 47125210 | 47125872 | 47125561 | 47125561 | Missense_Mutation | C | A | p.K1903N |
| SCLC21H_LUNG | 47125210 | 47125872 | 47125561 | 47125561 | Missense_Mutation | C | A | p.K1903N |
| NH12_AUTONOMIC_GANGLIA | 47125210 | 47125872 | 47125697 | 47125697 | Missense_Mutation | G | T | p.P1858H |
| SNU878_LIVER | 47125210 | 47125872 | 47125724 | 47125724 | Missense_Mutation | G | A | p.S1849L |
| CW2_LARGE_INTESTINE | 47127685 | 47127804 | 47127716 | 47127716 | Missense_Mutation | C | T | p.G1789D |
| SNU324_PANCREAS | 47127685 | 47127804 | 47127717 | 47127717 | Missense_Mutation | C | T | p.G1789S |
| NCIH187_LUNG | 47127685 | 47127804 | 47127752 | 47127752 | Missense_Mutation | G | A | p.S1777F |
| HSC3_UPPER_AERODIGESTIVE_TRACT | 47127685 | 47127804 | 47127776 | 47127776 | Missense_Mutation | G | T | p.S1769Y |
| ETK1_BILIARY_TRACT | 47127685 | 47127804 | 47127776 | 47127776 | Missense_Mutation | G | T | p.S1769Y |
| EN_ENDOMETRIUM | 47127685 | 47127804 | 47127782 | 47127782 | Missense_Mutation | A | G | p.L1767P |
| NCIH748_LUNG | 47129603 | 47129737 | 47129617 | 47129617 | Missense_Mutation | G | C | p.L1755V |
| MRKNU1_BREAST | 47129603 | 47129737 | 47129630 | 47129630 | Missense_Mutation | C | G | p.Q1750H |
| TE9_OESOPHAGUS | 47129603 | 47129737 | 47129661 | 47129661 | Missense_Mutation | C | T | p.R1740Q |
| NCIH1339_LUNG | 47142948 | 47143045 | 47142963 | 47142963 | Missense_Mutation | T | A | p.Q1667L |
| SNU1040_LARGE_INTESTINE | 47142948 | 47143045 | 47143036 | 47143036 | Missense_Mutation | T | A | p.N1643Y |
| LOXIMVI_SKIN | 47144836 | 47144913 | 47144880 | 47144880 | Missense_Mutation | G | A | p.R1625C |
| HCC2998_LARGE_INTESTINE | 47144836 | 47144913 | 47144895 | 47144895 | Missense_Mutation | T | G | p.K1620Q |
| LU165_LUNG | 47147487 | 47147610 | 47147507 | 47147507 | Missense_Mutation | T | C | p.M1607V |
| JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47147487 | 47147610 | 47147516 | 47147516 | Missense_Mutation | A | C | p.Y1604D |
| NCIH1339_LUNG | 47147487 | 47147610 | 47147527 | 47147527 | Missense_Mutation | T | A | p.K1600I |
| JHUEM7_ENDOMETRIUM | 47147487 | 47147610 | 47147573 | 47147573 | Missense_Mutation | C | T | p.D1585N |
| HUCCT1_BILIARY_TRACT | 47098311 | 47098980 | 47098421 | 47098421 | Nonsense_Mutation | G | A | p.Q2285* |
| VMRCRCW_KIDNEY | 47108560 | 47108608 | 47108599 | 47108599 | Nonsense_Mutation | G | A | p.R2024* |
| LB996RCC_KIDNEY | 47142948 | 47143045 | 47143033 | 47143033 | Nonsense_Mutation | C | A | p.G1644* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 47061250 | 47061330 | 47061330 | 47061330 | Splice_Site | C | T | p.A2451T |
| RCCMF_KIDNEY | 47127685 | 47127804 | 47127796 | 47127804 | Splice_Site | GTGTGTGTT | - | p.NTH1760del |
| SLR26_KIDNEY | 47142948 | 47143045 | 47142948 | 47142948 | Splice_Site | C | T | p.G1672E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SETD2 |
| 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 SETD2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SETD2 |
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RelatedDrugs for SETD2 |
| 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 SETD2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SETD2 | C0007134 | Renal Cell Carcinoma | 2 | CTD_human |
| SETD2 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| SETD2 | C0010701 | Phyllodes Tumor | 1 | CTD_human |
| SETD2 | C0023418 | leukemia | 1 | CTD_human |
| SETD2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| SETD2 | C0920269 | Microsatellite Instability | 1 | CTD_human |
| SETD2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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