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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 BAX |
 Gene summary |
| Gene information | Gene symbol | BAX | Gene ID | 581 |
| Gene name | BCL2 associated X, apoptosis regulator | |
| Synonyms | BCL2L4 | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | apoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4 | |
| Modification date | 20180527 | |
| UniProtAcc | Q07812 | |
| Context | PubMed: BAX [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 |
| BAX | GO:0001783 | B cell apoptotic process | 15214043|16424160 |
| BAX | GO:0001836 | release of cytochrome c from mitochondria | 9843949|16199525|17052454 |
| BAX | GO:0006915 | apoptotic process | 9660918 |
| BAX | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 11912183 |
| BAX | GO:0008053 | mitochondrial fusion | 14769861 |
| BAX | GO:0008635 | activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c | 15214043 |
| BAX | GO:0008637 | apoptotic mitochondrial changes | 9843949 |
| BAX | GO:0009636 | response to toxic substance | 16307838 |
| BAX | GO:0010248 | establishment or maintenance of transmembrane electrochemical gradient | 9843949 |
| BAX | GO:0032091 | negative regulation of protein binding | 9388232 |
| BAX | GO:0032461 | positive regulation of protein oligomerization | 19805544 |
| BAX | GO:0032976 | release of matrix enzymes from mitochondria | 9843949 |
| BAX | GO:0043065 | positive regulation of apoptotic process | 17464193 |
| BAX | GO:0043496 | regulation of protein homodimerization activity | 9111042 |
| BAX | GO:0043525 | positive regulation of neuron apoptotic process | 15637643 |
| BAX | GO:0043653 | mitochondrial fragmentation involved in apoptotic process | 12499352 |
| BAX | GO:0051259 | protein complex oligomerization | 19074440 |
| BAX | GO:0051260 | protein homooligomerization | 14522999|19767770 |
| BAX | GO:0051881 | regulation of mitochondrial membrane potential | 9843949 |
| BAX | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 14963330 |
| BAX | GO:0097190 | apoptotic signaling pathway | 16424160 |
| BAX | GO:0097191 | extrinsic apoptotic signaling pathway | 15214043 |
| BAX | GO:0097193 | intrinsic apoptotic signaling pathway | 9219694|16462759 |
| BAX | GO:1990117 | B cell receptor apoptotic signaling pathway | 15214043 |
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Exon skipping events across known transcript of Ensembl for BAX 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 BAX |
| 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 BAX |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308970 | 19 | 49458185:49458219:49458804:49458856:49458943:49459090 | 49458804:49458856 | ENSG00000087088.15 | ENST00000415969.2,ENST00000356483.4,ENST00000293288.8,ENST00000539787.1,ENST00000345358.7 |
| exon_skip_308972 | 19 | 49458185:49458219:49458804:49458856:49459454:49459573 | 49458804:49458856 | ENSG00000087088.15 | ENST00000354470.3 |
| exon_skip_308974 | 19 | 49458185:49458219:49458804:49459090:49459454:49459573 | 49458804:49459090 | ENSG00000087088.15 | ENST00000513545.1 |
| exon_skip_308978 | 19 | 49458185:49458219:49458943:49459090:49459454:49459573 | 49458943:49459090 | ENSG00000087088.15 | ENST00000391871.3,ENST00000515540.1 |
| exon_skip_308981 | 19 | 49458185:49458219:49459454:49459590:49464066:49464092 | 49459454:49459590 | ENSG00000087088.15 | ENST00000506183.1 |
| exon_skip_308983 | 19 | 49458814:49458856:49458943:49459090:49459454:49459573 | 49458943:49459090 | ENSG00000087088.15 | ENST00000415969.2,ENST00000356483.4,ENST00000293288.8,ENST00000539787.1,ENST00000345358.7 |
| exon_skip_308986 | 19 | 49458804:49458856:49459454:49459590:49464066:49464092 | 49459454:49459590 | ENSG00000087088.15 | ENST00000354470.3 |
| exon_skip_308988 | 19 | 49458943:49459090:49459454:49459590:49464066:49464092 | 49459454:49459590 | ENSG00000087088.15 | ENST00000391871.3,ENST00000415969.2,ENST00000293288.8,ENST00000345358.7,ENST00000502487.1,ENST00000503726.1,ENST00000513545.1 |
| exon_skip_308990 | 19 | 49459454:49459590:49463495:49463593:49464066:49464092 | 49463495:49463593 | ENSG00000087088.15 | ENST00000356483.4,ENST00000539787.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BAX |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308970 | 19 | 49458185:49458219:49458804:49458856:49458943:49459090 | 49458804:49458856 | ENSG00000087088.15 | ENST00000539787.1,ENST00000345358.7,ENST00000356483.4,ENST00000415969.2,ENST00000293288.8 |
| exon_skip_308972 | 19 | 49458185:49458219:49458804:49458856:49459454:49459573 | 49458804:49458856 | ENSG00000087088.15 | ENST00000354470.3 |
| exon_skip_308974 | 19 | 49458185:49458219:49458804:49459090:49459454:49459573 | 49458804:49459090 | ENSG00000087088.15 | ENST00000513545.1 |
| exon_skip_308978 | 19 | 49458185:49458219:49458943:49459090:49459454:49459573 | 49458943:49459090 | ENSG00000087088.15 | ENST00000391871.3,ENST00000515540.1 |
| exon_skip_308981 | 19 | 49458185:49458219:49459454:49459590:49464066:49464092 | 49459454:49459590 | ENSG00000087088.15 | ENST00000506183.1 |
| exon_skip_308983 | 19 | 49458814:49458856:49458943:49459090:49459454:49459573 | 49458943:49459090 | ENSG00000087088.15 | ENST00000539787.1,ENST00000345358.7,ENST00000356483.4,ENST00000415969.2,ENST00000293288.8 |
| exon_skip_308986 | 19 | 49458804:49458856:49459454:49459590:49464066:49464092 | 49459454:49459590 | ENSG00000087088.15 | ENST00000354470.3 |
| exon_skip_308988 | 19 | 49458943:49459090:49459454:49459590:49464066:49464092 | 49459454:49459590 | ENSG00000087088.15 | ENST00000502487.1,ENST00000345358.7,ENST00000391871.3,ENST00000513545.1,ENST00000415969.2,ENST00000293288.8,ENST00000503726.1 |
| exon_skip_308990 | 19 | 49459454:49459590:49463495:49463593:49464066:49464092 | 49463495:49463593 | ENSG00000087088.15 | ENST00000539787.1,ENST00000356483.4 |
| 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 BAX |
| 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 |
| ENST00000345358 | 49458804 | 49458856 | Frame-shift |
| ENST00000345358 | 49459454 | 49459590 | Frame-shift |
| ENST00000345358 | 49458943 | 49459090 | 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 |
| ENST00000345358 | 49458804 | 49458856 | Frame-shift |
| ENST00000345358 | 49459454 | 49459590 | Frame-shift |
| ENST00000345358 | 49458943 | 49459090 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BAX |
| 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 |
| ENST00000345358 | 810 | 192 | 49458943 | 49459090 | 139 | 285 | 29 | 77 |
| 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 |
| ENST00000345358 | 810 | 192 | 49458943 | 49459090 | 139 | 285 | 29 | 77 |
| 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 BAX |
| - 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. |
BAX_BRCA_exon_skip_308974_psi_boxplot.png |
BAX_COAD_exon_skip_308974_psi_boxplot.png |
BAX_ESCA_exon_skip_308974_psi_boxplot.png |
BAX_PRAD_exon_skip_308974_psi_boxplot.png |
BAX_STAD_exon_skip_308974_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 |
| COAD | TCGA-AD-6889-01 | exon_skip_308970 exon_skip_308972 | 49458805 | 49458856 | 49458854 | 49458854 | Frame_Shift_Del | G | - | p.Q28fs |
| COAD | TCGA-AD-6889-01 | exon_skip_308974 | 49458805 | 49459090 | 49458854 | 49458854 | Frame_Shift_Del | G | - | p.Q28fs |
| ACC | TCGA-OR-A5J5-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| ACC | TCGA-OR-A5J5-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| COAD | TCGA-A6-6781-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| COAD | TCGA-A6-6781-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| COAD | TCGA-AY-6197-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| COAD | TCGA-AY-6197-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.E41fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.E41fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.M38fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.E41fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458971 | Frame_Shift_Del | G | - | p.E41fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458972 | Frame_Shift_Del | GG | - | p.38_38del |
| STAD | TCGA-HU-A4G8-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458972 | Frame_Shift_Del | GG | - | p.38_38del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_308974 | 49458805 | 49459090 | 49458984 | 49458984 | Frame_Shift_Del | C | - | p.P43fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458984 | 49458984 | Frame_Shift_Del | C | - | p.P43fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_308986 exon_skip_308981 exon_skip_308988 | 49459455 | 49459590 | 49459559 | 49459559 | Frame_Shift_Del | T | - | p.L113fs |
| BRCA | TCGA-E9-A1NC-01 | exon_skip_308974 | 49458805 | 49459090 | 49458970 | 49458971 | Frame_Shift_Ins | - | G | p.E41fs |
| BRCA | TCGA-E9-A1NC-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458970 | 49458971 | Frame_Shift_Ins | - | G | p.E41fs |
| BRCA | TCGA-E9-A1NI-01 | exon_skip_308974 | 49458805 | 49459090 | 49458970 | 49458971 | Frame_Shift_Ins | - | G | p.E41fs |
| BRCA | TCGA-E9-A1NI-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458970 | 49458971 | Frame_Shift_Ins | - | G | p.E41fs |
| PRAD | TCGA-J9-A52C-01 | exon_skip_308974 | 49458805 | 49459090 | 49458970 | 49458971 | Frame_Shift_Ins | - | G | p.M38fs |
| PRAD | TCGA-J9-A52C-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458970 | 49458971 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-BR-4292-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-BR-4292-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-BR-7851-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-BR-7851-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-BR-8361-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-BR-8361-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-CD-A4MJ-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-CD-A4MJ-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_308974 | 49458805 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_308978 exon_skip_308983 | 49458944 | 49459090 | 49458971 | 49458972 | Frame_Shift_Ins | - | G | p.M38fs |
| BLCA | TCGA-BT-A20J-01 | exon_skip_308970 exon_skip_308972 | 49458805 | 49458856 | 49458852 | 49458852 | Nonsense_Mutation | C | T | p.Q28* |
| BLCA | TCGA-BT-A20J-01 | exon_skip_308974 | 49458805 | 49459090 | 49458852 | 49458852 | Nonsense_Mutation | C | T | p.Q28* |
| LGG | TCGA-HW-7495-01 | exon_skip_308986 exon_skip_308981 exon_skip_308988 | 49459455 | 49459590 | 49459501 | 49459501 | Nonsense_Mutation | C | T | p.R45X |
| LGG | TCGA-HW-7495-01 | exon_skip_308986 exon_skip_308981 exon_skip_308988 | 49459455 | 49459590 | 49459501 | 49459501 | Nonsense_Mutation | C | T | p.R94* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-E9-A1NC-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458970 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.E41fs | |
| Sample: TCGA-E9-A1NC-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458970 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.E41fs | |
exon_skip_308974_BRCA_TCGA-E9-A1NC-01.png | |
 | Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.M38fs | |
| Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.M38fs | |
| Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.E41fs | |
| Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.E41fs | |
exon_skip_112640_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_112965_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_122690_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_129706_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135696_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135704_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135820_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_147024_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_149455_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_307491_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_308211_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_308974_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_309972_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_311841_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_328488_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_349475_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_352933_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_374468_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_374469_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_386802_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_423582_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_428975_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_434375_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_439047_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_439048_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_441654_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_443160_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_443161_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_457940_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_461524_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_470470_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_470694_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_474097_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_477308_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_487634_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_495456_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_502537_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_506535_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_55351_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_77217_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_91288_ESCA_TCGA-L5-A4OI-01.png | |
 | Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.E41fs | |
| Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.E41fs | |
exon_skip_126510_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_145922_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_20931_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_290909_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_301129_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_308211_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_308974_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_310302_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_329666_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_330701_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_330704_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_356820_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_356824_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_370065_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_389081_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_421270_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_433436_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_461351_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_461353_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_464726_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_47552_ESCA_TCGA-L5-A8NM-01.png | |
exon_skip_517614_ESCA_TCGA-L5-A8NM-01.png | |
 | Sample: TCGA-J9-A52C-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458970 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| Sample: TCGA-J9-A52C-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458970 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
exon_skip_14948_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_308974_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_452229_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_452231_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_452232_PRAD_TCGA-J9-A52C-01.png | |
exon_skip_452233_PRAD_TCGA-J9-A52C-01.png | |
 | Sample: TCGA-HU-A4G8-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GG | |
| Mutation seq: - | |
| AAchange: p.38_38del | |
| Sample: TCGA-HU-A4G8-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GG | |
| Mutation seq: - | |
| AAchange: p.38_38del | |
exon_skip_115627_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_285856_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_308974_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_328529_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_374468_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_374469_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_45545_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_49506_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_507604_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_513485_STAD_TCGA-HU-A4G8-01.png | |
exon_skip_92194_STAD_TCGA-HU-A4G8-01.png | |
 | Sample: TCGA-BR-7851-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| Sample: TCGA-BR-7851-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
exon_skip_290191_STAD_TCGA-BR-7851-01.png | |
exon_skip_308974_STAD_TCGA-BR-7851-01.png | |
exon_skip_313700_STAD_TCGA-BR-7851-01.png | |
exon_skip_319706_STAD_TCGA-BR-7851-01.png | |
exon_skip_385593_STAD_TCGA-BR-7851-01.png | |
exon_skip_441654_STAD_TCGA-BR-7851-01.png | |
exon_skip_507416_STAD_TCGA-BR-7851-01.png | |
exon_skip_7378_STAD_TCGA-BR-7851-01.png | |
exon_skip_96939_STAD_TCGA-BR-7851-01.png | |
 | Sample: TCGA-BR-8361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| Sample: TCGA-BR-8361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
exon_skip_308974_STAD_TCGA-BR-8361-01.png | |
exon_skip_346425_STAD_TCGA-BR-8361-01.png | |
exon_skip_346426_STAD_TCGA-BR-8361-01.png | |
exon_skip_35193_STAD_TCGA-BR-8361-01.png | |
exon_skip_361242_STAD_TCGA-BR-8361-01.png | |
exon_skip_379370_STAD_TCGA-BR-8361-01.png | |
exon_skip_388276_STAD_TCGA-BR-8361-01.png | |
exon_skip_421737_STAD_TCGA-BR-8361-01.png | |
exon_skip_511069_STAD_TCGA-BR-8361-01.png | |
exon_skip_517775_STAD_TCGA-BR-8361-01.png | |
exon_skip_77254_STAD_TCGA-BR-8361-01.png | |
exon_skip_77846_STAD_TCGA-BR-8361-01.png | |
exon_skip_91288_STAD_TCGA-BR-8361-01.png | |
 | Sample: TCGA-HU-A4H3-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| Sample: TCGA-HU-A4H3-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
exon_skip_101895_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_101900_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_134053_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_142361_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_21488_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_286384_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_299738_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_307491_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_308974_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_308983_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_312995_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_320688_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_320689_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_320690_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_328488_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_330511_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_450406_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_60290_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_60294_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_69561_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_74347_STAD_TCGA-HU-A4H3-01.png | |
exon_skip_8059_STAD_TCGA-HU-A4H3-01.png | |
 | Sample: TCGA-E9-A1NC-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458970 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.E41fs | |
| Sample: TCGA-E9-A1NC-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458970 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.E41fs | |
| exon_skip_308974_BRCA_TCGA-E9-A1NC-01.png | |
 | Sample: TCGA-AD-6889-01 |
| Cancer type: COAD | |
| ESID: exon_skip_308972 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49458856 | |
| Mutation start: 49458854 | |
| Mutation end: 49458854 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q28fs | |
| Sample: TCGA-AD-6889-01 |
| Cancer type: COAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458854 | |
| Mutation end: 49458854 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q28fs | |
exon_skip_139071_COAD_TCGA-AD-6889-01.png | |
exon_skip_303809_COAD_TCGA-AD-6889-01.png | |
exon_skip_308972_COAD_TCGA-AD-6889-01.png | |
exon_skip_38931_COAD_TCGA-AD-6889-01.png | |
exon_skip_425491_COAD_TCGA-AD-6889-01.png | |
exon_skip_425492_COAD_TCGA-AD-6889-01.png | |
exon_skip_49506_COAD_TCGA-AD-6889-01.png | |
 | Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.M38fs | |
| Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.M38fs | |
| Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.E41fs | |
| Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.E41fs | |
| exon_skip_112640_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_112965_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_122690_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_129706_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_135696_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_135704_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_135820_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_147024_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_149455_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_307491_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_308211_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_308974_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_309972_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_311841_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_328488_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_349475_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_352933_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_374468_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_374469_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_386802_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_423582_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_428975_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_434375_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_439047_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_439048_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_441654_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_443160_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_443161_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_457940_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_461524_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_470470_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_470694_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_474097_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_477308_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_487634_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_495456_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_502537_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_506535_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_55351_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_77217_ESCA_TCGA-L5-A4OI-01.png | |
| exon_skip_91288_ESCA_TCGA-L5-A4OI-01.png | |
 | Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.E41fs | |
| Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.E41fs | |
| exon_skip_126510_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_145922_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_20931_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_290909_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_301129_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_308211_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_308974_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_310302_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_329666_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_330701_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_330704_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_356820_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_356824_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_370065_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_389081_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_421270_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_433436_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_461351_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_461353_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_464726_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_47552_ESCA_TCGA-L5-A8NM-01.png | |
| exon_skip_517614_ESCA_TCGA-L5-A8NM-01.png | |
 | Sample: TCGA-J9-A52C-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458970 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| Sample: TCGA-J9-A52C-01 |
| Cancer type: PRAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458970 | |
| Mutation end: 49458971 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| exon_skip_14948_PRAD_TCGA-J9-A52C-01.png | |
| exon_skip_308974_PRAD_TCGA-J9-A52C-01.png | |
| exon_skip_452229_PRAD_TCGA-J9-A52C-01.png | |
| exon_skip_452231_PRAD_TCGA-J9-A52C-01.png | |
| exon_skip_452232_PRAD_TCGA-J9-A52C-01.png | |
| exon_skip_452233_PRAD_TCGA-J9-A52C-01.png | |
 | Sample: TCGA-HU-A4G8-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GG | |
| Mutation seq: - | |
| AAchange: p.38_38del | |
| Sample: TCGA-HU-A4G8-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GG | |
| Mutation seq: - | |
| AAchange: p.38_38del | |
| exon_skip_115627_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_285856_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_308974_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_328529_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_374468_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_374469_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_45545_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_49506_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_507604_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_513485_STAD_TCGA-HU-A4G8-01.png | |
| exon_skip_92194_STAD_TCGA-HU-A4G8-01.png | |
 | Sample: TCGA-BR-7851-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| Sample: TCGA-BR-7851-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| exon_skip_290191_STAD_TCGA-BR-7851-01.png | |
| exon_skip_308974_STAD_TCGA-BR-7851-01.png | |
| exon_skip_313700_STAD_TCGA-BR-7851-01.png | |
| exon_skip_319706_STAD_TCGA-BR-7851-01.png | |
| exon_skip_385593_STAD_TCGA-BR-7851-01.png | |
| exon_skip_441654_STAD_TCGA-BR-7851-01.png | |
| exon_skip_507416_STAD_TCGA-BR-7851-01.png | |
| exon_skip_7378_STAD_TCGA-BR-7851-01.png | |
| exon_skip_96939_STAD_TCGA-BR-7851-01.png | |
 | Sample: TCGA-BR-8361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| Sample: TCGA-BR-8361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| exon_skip_308974_STAD_TCGA-BR-8361-01.png | |
| exon_skip_346425_STAD_TCGA-BR-8361-01.png | |
| exon_skip_346426_STAD_TCGA-BR-8361-01.png | |
| exon_skip_35193_STAD_TCGA-BR-8361-01.png | |
| exon_skip_361242_STAD_TCGA-BR-8361-01.png | |
| exon_skip_379370_STAD_TCGA-BR-8361-01.png | |
| exon_skip_388276_STAD_TCGA-BR-8361-01.png | |
| exon_skip_421737_STAD_TCGA-BR-8361-01.png | |
| exon_skip_511069_STAD_TCGA-BR-8361-01.png | |
| exon_skip_517775_STAD_TCGA-BR-8361-01.png | |
| exon_skip_77254_STAD_TCGA-BR-8361-01.png | |
| exon_skip_77846_STAD_TCGA-BR-8361-01.png | |
| exon_skip_91288_STAD_TCGA-BR-8361-01.png | |
 | Sample: TCGA-HU-A4H3-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308983 | |
| Skipped exon start: 49458944 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| Sample: TCGA-HU-A4H3-01 |
| Cancer type: STAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458971 | |
| Mutation end: 49458972 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.M38fs | |
| exon_skip_101895_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_101900_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_134053_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_142361_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_21488_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_286384_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_299738_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_307491_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_308974_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_308983_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_312995_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_320688_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_320689_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_320690_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_328488_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_330511_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_450406_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_60290_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_60294_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_69561_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_74347_STAD_TCGA-HU-A4H3-01.png | |
| exon_skip_8059_STAD_TCGA-HU-A4H3-01.png | |
 | Sample: TCGA-AD-6889-01 |
| Cancer type: COAD | |
| ESID: exon_skip_308972 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49458856 | |
| Mutation start: 49458854 | |
| Mutation end: 49458854 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q28fs | |
| Sample: TCGA-AD-6889-01 |
| Cancer type: COAD | |
| ESID: exon_skip_308974 | |
| Skipped exon start: 49458805 | |
| Skipped exon end: 49459090 | |
| Mutation start: 49458854 | |
| Mutation end: 49458854 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q28fs | |
| exon_skip_139071_COAD_TCGA-AD-6889-01.png | |
| exon_skip_303809_COAD_TCGA-AD-6889-01.png | |
| exon_skip_308972_COAD_TCGA-AD-6889-01.png | |
| exon_skip_38931_COAD_TCGA-AD-6889-01.png | |
| exon_skip_425491_COAD_TCGA-AD-6889-01.png | |
| exon_skip_425492_COAD_TCGA-AD-6889-01.png | |
| exon_skip_49506_COAD_TCGA-AD-6889-01.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 |
| 22RV1_PROSTATE | 49458944 | 49459090 | 49458971 | 49458972 | Frame_Shift_Del | GG | - | p.G40fs |
| 22RV1_PROSTATE | 49458805 | 49459090 | 49458971 | 49458972 | Frame_Shift_Del | GG | - | p.G40fs |
| HEC151_ENDOMETRIUM | 49458944 | 49459090 | 49458971 | 49458972 | Frame_Shift_Del | GG | - | p.G40fs |
| HEC151_ENDOMETRIUM | 49458805 | 49459090 | 49458971 | 49458972 | Frame_Shift_Del | GG | - | p.G40fs |
| HEC151_ENDOMETRIUM | 49458944 | 49459090 | 49458972 | 49458972 | Frame_Shift_Del | G | - | p.G40fs |
| HEC151_ENDOMETRIUM | 49458805 | 49459090 | 49458972 | 49458972 | Frame_Shift_Del | G | - | p.G40fs |
| SISO_CERVIX | 49459455 | 49459590 | 49459481 | 49459481 | Frame_Shift_Del | C | - | p.S87fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49459455 | 49459590 | 49459481 | 49459481 | Frame_Shift_Del | C | - | p.S87fs |
| NCIH2342_LUNG | 49458944 | 49459090 | 49458963 | 49458971 | In_Frame_Del | GGGCGAATG | - | p.GRM36del |
| NCIH2342_LUNG | 49458805 | 49459090 | 49458963 | 49458971 | In_Frame_Del | GGGCGAATG | - | p.GRM36del |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 49458805 | 49458856 | 49458843 | 49458843 | Missense_Mutation | C | T | p.L25F |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 49458805 | 49459090 | 49458843 | 49458843 | Missense_Mutation | C | T | p.L25F |
| SNU1040_LARGE_INTESTINE | 49458944 | 49459090 | 49458949 | 49458949 | Missense_Mutation | T | C | p.I31T |
| SNU1040_LARGE_INTESTINE | 49458805 | 49459090 | 49458949 | 49458949 | Missense_Mutation | T | C | p.I31T |
| RH30_SOFT_TISSUE | 49458944 | 49459090 | 49458953 | 49458953 | Missense_Mutation | G | T | p.Q32H |
| RH30_SOFT_TISSUE | 49458805 | 49459090 | 49458953 | 49458953 | Missense_Mutation | G | T | p.Q32H |
| STS0421_SOFT_TISSUE | 49458944 | 49459090 | 49458982 | 49458982 | Missense_Mutation | C | T | p.A42V |
| STS0421_SOFT_TISSUE | 49458805 | 49459090 | 49458982 | 49458982 | Missense_Mutation | C | T | p.A42V |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49458944 | 49459090 | 49459056 | 49459056 | Missense_Mutation | G | A | p.G67R |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49458805 | 49459090 | 49459056 | 49459056 | Missense_Mutation | G | A | p.G67R |
| KNS62_LUNG | 49458944 | 49459090 | 49459056 | 49459056 | Missense_Mutation | G | A | p.G67R |
| KNS62_LUNG | 49458805 | 49459090 | 49459056 | 49459056 | Missense_Mutation | G | A | p.G67R |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49458944 | 49459090 | 49459056 | 49459056 | Missense_Mutation | G | A | p.G67R |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49458805 | 49459090 | 49459056 | 49459056 | Missense_Mutation | G | A | p.G67R |
| SNU81_LARGE_INTESTINE | 49458944 | 49459090 | 49459080 | 49459080 | Missense_Mutation | G | A | p.E75K |
| SNU81_LARGE_INTESTINE | 49458805 | 49459090 | 49459080 | 49459080 | Missense_Mutation | G | A | p.E75K |
| TE15_OESOPHAGUS | 49459455 | 49459590 | 49459483 | 49459483 | Missense_Mutation | C | T | p.P88S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49459455 | 49459590 | 49459544 | 49459544 | Missense_Mutation | G | T | p.G108V |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49458944 | 49459090 | 49458957 | 49458957 | Nonsense_Mutation | C | T | p.R34* |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49458805 | 49459090 | 49458957 | 49458957 | Nonsense_Mutation | C | T | p.R34* |
| ASH3_THYROID | 49458944 | 49459090 | 49459090 | 49459090 | Splice_Site | G | T | p.R78M |
| ASH3_THYROID | 49458805 | 49459090 | 49459090 | 49459090 | Splice_Site | G | T | p.R78M |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BAX |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BAX |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BAX |
Top |
RelatedDrugs for BAX |
| 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 |
Top |
RelatedDiseases for BAX |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BAX | C0027051 | Myocardial Infarction | 2 | CTD_human |
| BAX | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| BAX | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| BAX | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| BAX | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| BAX | C0019693 | HIV Infections | 1 | CTD_human |
| BAX | C0021364 | Male infertility | 1 | CTD_human |
| BAX | C0021841 | Intestinal Neoplasms | 1 | CTD_human |
| BAX | C0022116 | Ischemia | 1 | CTD_human |
| BAX | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| BAX | C0027746 | Nerve Degeneration | 1 | CTD_human |
| BAX | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| BAX | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| BAX | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| BAX | C0920269 | Microsatellite Instability | 1 | CTD_human |
| BAX | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| BAX | C2609414 | Acute kidney injury | 1 | CTD_human |
| BAX | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
| BAX | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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