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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 ASPM |
 Gene summary |
| Gene information | Gene symbol | ASPM | Gene ID | 259266 |
| Gene name | abnormal spindle microtubule assembly | |
| Synonyms | ASP|Calmbp1|MCPH5 | |
| Cytomap | 1q31.3 | |
| Type of gene | protein-coding | |
| Description | abnormal spindle-like microcephaly-associated proteinasp (abnormal spindle) homolog, microcephaly associated | |
| Modification date | 20180522 | |
| UniProtAcc | Q8IZT6 | |
| Context | PubMed: ASPM [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 ASPM 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 ASPM |
| 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 ASPM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35190 | 1 | 197059979:197060171:197061036:197061186:197062181:197062391 | 197061036:197061186 | ENSG00000066279.12 | ENST00000367408.1,ENST00000294732.7,ENST00000367409.4 |
| exon_skip_35193 | 1 | 197065127:197065294:197069560:197074315:197086918:197087113 | 197069560:197074315 | ENSG00000066279.12 | ENST00000367409.4 |
| exon_skip_35194 | 1 | 197094175:197094321:197097619:197097795:197098316:197098447 | 197097619:197097795 | ENSG00000066279.12 | ENST00000367408.1,ENST00000294732.7,ENST00000367409.4 |
| exon_skip_35195 | 1 | 197104225:197104372:197108896:197109001:197111460:197112940 | 197108896:197109001 | ENSG00000066279.12 | ENST00000294732.7,ENST00000367409.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ASPM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35190 | 1 | 197059979:197060171:197061036:197061186:197062181:197062391 | 197061036:197061186 | ENSG00000066279.12 | ENST00000367409.4,ENST00000294732.7,ENST00000367408.1 |
| exon_skip_35193 | 1 | 197065127:197065294:197069560:197074315:197086918:197087113 | 197069560:197074315 | ENSG00000066279.12 | ENST00000367409.4 |
| exon_skip_35194 | 1 | 197094175:197094321:197097619:197097795:197098316:197098447 | 197097619:197097795 | ENSG00000066279.12 | ENST00000367409.4,ENST00000294732.7,ENST00000367408.1 |
| exon_skip_35195 | 1 | 197104225:197104372:197108896:197109001:197111460:197112940 | 197108896:197109001 | ENSG00000066279.12 | ENST00000367409.4,ENST00000294732.7 |
| 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 ASPM |
| 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 |
| ENST00000367409 | 197097619 | 197097795 | Frame-shift |
| ENST00000367409 | 197061036 | 197061186 | In-frame |
| ENST00000367409 | 197069560 | 197074315 | In-frame |
| ENST00000367409 | 197108896 | 197109001 | 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 |
| ENST00000367409 | 197097619 | 197097795 | Frame-shift |
| ENST00000367409 | 197061036 | 197061186 | In-frame |
| ENST00000367409 | 197069560 | 197074315 | In-frame |
| ENST00000367409 | 197108896 | 197109001 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ASPM |
| 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 |
| ENST00000367409 | 10904 | 3477 | 197108896 | 197109001 | 2179 | 2283 | 640 | 675 |
| ENST00000367409 | 10904 | 3477 | 197069560 | 197074315 | 4323 | 9077 | 1355 | 2940 |
| ENST00000367409 | 10904 | 3477 | 197061036 | 197061186 | 9552 | 9701 | 3098 | 3148 |
| 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 |
| ENST00000367409 | 10904 | 3477 | 197108896 | 197109001 | 2179 | 2283 | 640 | 675 |
| ENST00000367409 | 10904 | 3477 | 197069560 | 197074315 | 4323 | 9077 | 1355 | 2940 |
| ENST00000367409 | 10904 | 3477 | 197061036 | 197061186 | 9552 | 9701 | 3098 | 3148 |
| 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 ASPM |
| - 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. |
ASPM_BRCA_exon_skip_35193_psi_boxplot.png |
ASPM_COAD_exon_skip_35193_psi_boxplot.png |
ASPM_ESCA_exon_skip_35193_psi_boxplot.png |
ASPM_HNSC_exon_skip_35193_psi_boxplot.png |
ASPM_LGG_exon_skip_35193_psi_boxplot.png |
ASPM_LIHC_exon_skip_35193_psi_boxplot.png |
ASPM_READ_exon_skip_35193_psi_boxplot.png |
ASPM_SKCM_exon_skip_35193_psi_boxplot.png |
ASPM_STAD_exon_skip_35193_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35190 | 197061037 | 197061186 | 197061058 | 197061058 | Frame_Shift_Del | A | - | p.V3141fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35190 | 197061037 | 197061186 | 197061094 | 197061094 | Frame_Shift_Del | T | - | p.K3129fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35190 | 197061037 | 197061186 | 197061105 | 197061105 | Frame_Shift_Del | T | - | p.R3126fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_35190 | 197061037 | 197061186 | 197061182 | 197061182 | Frame_Shift_Del | A | - | p.L3100fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35193 | 197069561 | 197074315 | 197070174 | 197070174 | Frame_Shift_Del | A | - | p.L2736fs |
| BRCA | TCGA-A8-A094-01 | exon_skip_35193 | 197069561 | 197074315 | 197070460 | 197070464 | Frame_Shift_Del | TTATT | - | p.I2640fs |
| LGG | TCGA-HW-7490-01 | exon_skip_35193 | 197069561 | 197074315 | 197070598 | 197070599 | Frame_Shift_Del | TC | - | p.2595_2595del |
| LGG | TCGA-HW-7490-01 | exon_skip_35193 | 197069561 | 197074315 | 197070598 | 197070599 | Frame_Shift_Del | TC | - | p.QK2594fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35193 | 197069561 | 197074315 | 197070637 | 197070637 | Frame_Shift_Del | T | - | p.I2583fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_35193 | 197069561 | 197074315 | 197070732 | 197070732 | Frame_Shift_Del | A | - | p.L2550fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_35193 | 197069561 | 197074315 | 197070804 | 197070804 | Frame_Shift_Del | T | - | p.N2526fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35193 | 197069561 | 197074315 | 197071496 | 197071496 | Frame_Shift_Del | T | - | p.K2295fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35193 | 197069561 | 197074315 | 197071631 | 197071631 | Frame_Shift_Del | A | - | p.F2250fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35193 | 197069561 | 197074315 | 197071651 | 197071651 | Frame_Shift_Del | T | - | p.I2244fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35193 | 197069561 | 197074315 | 197071729 | 197071729 | Frame_Shift_Del | T | - | p.T2218fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35193 | 197069561 | 197074315 | 197071729 | 197071729 | Frame_Shift_Del | T | - | p.T2218fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35193 | 197069561 | 197074315 | 197071850 | 197071850 | Frame_Shift_Del | A | - | p.F2177fs |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_35193 | 197069561 | 197074315 | 197071871 | 197071871 | Frame_Shift_Del | A | - | p.V2170fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35193 | 197069561 | 197074315 | 197072266 | 197072266 | Frame_Shift_Del | T | - | p.R2039fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_35193 | 197069561 | 197074315 | 197072396 | 197072396 | Frame_Shift_Del | T | - | p.A1996fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35193 | 197069561 | 197074315 | 197072497 | 197072497 | Frame_Shift_Del | T | - | p.T1962fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_35193 | 197069561 | 197074315 | 197072766 | 197072766 | Frame_Shift_Del | A | - | p.L1872fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_35193 | 197069561 | 197074315 | 197072803 | 197072803 | Frame_Shift_Del | C | - | p.A1860fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35193 | 197069561 | 197074315 | 197072876 | 197072876 | Frame_Shift_Del | A | - | p.F1835fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35193 | 197069561 | 197074315 | 197072972 | 197072972 | Frame_Shift_Del | T | - | p.K1803fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35193 | 197069561 | 197074315 | 197072972 | 197072972 | Frame_Shift_Del | T | - | p.K1803fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35193 | 197069561 | 197074315 | 197073096 | 197073096 | Frame_Shift_Del | A | - | p.F1762fs |
| ACC | TCGA-PK-A5HB-01 | exon_skip_35193 | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_35193 | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| KICH | TCGA-KL-8326-01 | exon_skip_35193 | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| LIHC | TCGA-G3-A3CG-01 | exon_skip_35193 | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35193 | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| STAD | TCGA-CG-4442-01 | exon_skip_35193 | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| STAD | TCGA-F1-6874-01 | exon_skip_35193 | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| STAD | TCGA-HU-8602-01 | exon_skip_35193 | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| UCEC | TCGA-AP-A0LE-01 | exon_skip_35193 | 197069561 | 197074315 | 197073342 | 197073342 | Frame_Shift_Del | T | - | p.N1680fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35193 | 197069561 | 197074315 | 197073354 | 197073354 | Frame_Shift_Del | A | - | p.L1676fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35193 | 197069561 | 197074315 | 197073354 | 197073354 | Frame_Shift_Del | A | - | p.L1676fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35193 | 197069561 | 197074315 | 197073699 | 197073699 | Frame_Shift_Del | C | - | p.R1561fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35193 | 197069561 | 197074315 | 197074049 | 197074049 | Frame_Shift_Del | T | - | p.K1444fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_35193 | 197069561 | 197074315 | 197074268 | 197074268 | Frame_Shift_Del | T | - | p.K1371fs |
| SKCM | TCGA-EE-A2M6-06 | exon_skip_35193 | 197069561 | 197074315 | 197074279 | 197074279 | Frame_Shift_Del | G | - | p.L1368fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35194 | 197097620 | 197097795 | 197097768 | 197097768 | Frame_Shift_Del | A | - | p.S930fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_35194 | 197097620 | 197097795 | 197097768 | 197097768 | Frame_Shift_Del | A | - | p.S930fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_35195 | 197108897 | 197109001 | 197108900 | 197108900 | Frame_Shift_Del | T | - | p.T675fs |
| UCEC | TCGA-BG-A18B-01 | exon_skip_35195 | 197108897 | 197109001 | 197108900 | 197108900 | Frame_Shift_Del | T | - | p.T675fs |
| COAD | TCGA-AD-6895-01 | exon_skip_35195 | 197108897 | 197109001 | 197108910 | 197108910 | Frame_Shift_Del | T | - | p.P672fs |
| LUAD | TCGA-86-A4JF-01 | exon_skip_35193 | 197069561 | 197074315 | 197070101 | 197070102 | Frame_Shift_Ins | - | T | p.S2760fs |
| COAD | TCGA-F4-6856-01 | exon_skip_35193 | 197069561 | 197074315 | 197070523 | 197070524 | Frame_Shift_Ins | - | T | p.Q2620fs |
| LIHC | TCGA-4R-AA8I-01 | exon_skip_35193 | 197069561 | 197074315 | 197070523 | 197070524 | Frame_Shift_Ins | - | T | p.Q2620fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_35193 | 197069561 | 197074315 | 197070731 | 197070732 | Frame_Shift_Ins | - | A | p.*2550fs |
| STAD | TCGA-BR-8361-01 | exon_skip_35193 | 197069561 | 197074315 | 197071072 | 197071073 | Frame_Shift_Ins | - | A | p.V2437fs |
| STAD | TCGA-BR-8361-01 | exon_skip_35193 | 197069561 | 197074315 | 197071073 | 197071074 | Frame_Shift_Ins | - | A | p.F2436fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_35193 | 197069561 | 197074315 | 197071084 | 197071085 | Frame_Shift_Ins | - | T | p.NY2432fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_35193 | 197069561 | 197074315 | 197071525 | 197071526 | Frame_Shift_Ins | - | GA | p.E2286fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_35193 | 197069561 | 197074315 | 197071525 | 197071526 | Frame_Shift_Ins | - | GA | p.K2286fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_35193 | 197069561 | 197074315 | 197072501 | 197072502 | Frame_Shift_Ins | - | C | p.G1960fs |
| COAD | TCGA-CA-6716-01 | exon_skip_35193 | 197069561 | 197074315 | 197072765 | 197072766 | Frame_Shift_Ins | - | A | p.L1872fs |
| COAD | TCGA-A6-6653-01 | exon_skip_35193 | 197069561 | 197074315 | 197073231 | 197073232 | Frame_Shift_Ins | - | T | p.I1717fs |
| COAD | TCGA-G4-6628-01 | exon_skip_35193 | 197069561 | 197074315 | 197073231 | 197073232 | Frame_Shift_Ins | - | T | p.I1717fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_35193 | 197069561 | 197074315 | 197073231 | 197073232 | Frame_Shift_Ins | - | T | p.I1717fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_35193 | 197069561 | 197074315 | 197073231 | 197073232 | Frame_Shift_Ins | - | T | p.S1717fs |
| KIRP | TCGA-BQ-7061-01 | exon_skip_35193 | 197069561 | 197074315 | 197073973 | 197073974 | Frame_Shift_Ins | - | A | p.H1470fs |
| KIRP | TCGA-BQ-7061-01 | exon_skip_35193 | 197069561 | 197074315 | 197073973 | 197073974 | Frame_Shift_Ins | - | A | p.I1469fs |
| KIRP | TCGA-BQ-7061-01 | exon_skip_35193 | 197069561 | 197074315 | 197073973 | 197073974 | Frame_Shift_Ins | - | A | p.I1470fs |
| PRAD | TCGA-X4-A8KQ-01 | exon_skip_35190 | 197061037 | 197061186 | 197061108 | 197061108 | Nonsense_Mutation | G | A | p.Q3125* |
| SKCM | TCGA-EE-A20C-06 | exon_skip_35190 | 197061037 | 197061186 | 197061162 | 197061162 | Nonsense_Mutation | G | A | p.R1522X |
| SKCM | TCGA-EE-A20C-06 | exon_skip_35190 | 197061037 | 197061186 | 197061162 | 197061162 | Nonsense_Mutation | G | A | p.R3107* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_35190 | 197061037 | 197061186 | 197061162 | 197061162 | Nonsense_Mutation | G | A | p.R3107* |
| CESC | TCGA-C5-A1MJ-01 | exon_skip_35193 | 197069561 | 197074315 | 197069809 | 197069809 | Nonsense_Mutation | G | A | p.Q2858* |
| HNSC | TCGA-CR-6472-01 | exon_skip_35193 | 197069561 | 197074315 | 197070880 | 197070880 | Nonsense_Mutation | G | A | p.Q2501* |
| SKCM | TCGA-EE-A2MD-06 | exon_skip_35193 | 197069561 | 197074315 | 197071057 | 197071057 | Nonsense_Mutation | G | A | p.R2442* |
| SKCM | TCGA-EE-A2MD-06 | exon_skip_35193 | 197069561 | 197074315 | 197071057 | 197071057 | Nonsense_Mutation | G | A | p.R2442X |
| SKCM | TCGA-EE-A2MJ-06 | exon_skip_35193 | 197069561 | 197074315 | 197071057 | 197071057 | Nonsense_Mutation | G | A | p.R2442* |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_35193 | 197069561 | 197074315 | 197072149 | 197072149 | Nonsense_Mutation | G | A | p.R2078* |
| READ | TCGA-EI-6917-01 | exon_skip_35193 | 197069561 | 197074315 | 197072347 | 197072347 | Nonsense_Mutation | C | A | p.E2012X |
| LGG | TCGA-DU-6392-01 | exon_skip_35193 | 197069561 | 197074315 | 197072572 | 197072572 | Nonsense_Mutation | C | A | p.G1937* |
| SKCM | TCGA-EE-A2MJ-06 | exon_skip_35193 | 197069561 | 197074315 | 197072848 | 197072848 | Nonsense_Mutation | G | A | p.Q1845* |
| COAD | TCGA-A6-6781-01 | exon_skip_35193 | 197069561 | 197074315 | 197073532 | 197073532 | Nonsense_Mutation | G | A | p.R1617X |
| COAD | TCGA-AA-3510-01 | exon_skip_35193 | 197069561 | 197074315 | 197073649 | 197073649 | Nonsense_Mutation | G | A | p.R1578X |
| SKCM | TCGA-D9-A4Z3-01 | exon_skip_35193 | 197069561 | 197074315 | 197073649 | 197073649 | Nonsense_Mutation | G | A | p.R1578* |
| SKCM | TCGA-D9-A4Z3-01 | exon_skip_35193 | 197069561 | 197074315 | 197073649 | 197073649 | Nonsense_Mutation | G | A | p.R1578X |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_35193 | 197069561 | 197074315 | 197073649 | 197073649 | Nonsense_Mutation | G | A | p.R1578* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_35193 | 197069561 | 197074315 | 197073649 | 197073649 | Nonsense_Mutation | G | A | p.R1578X |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_35193 | 197069561 | 197074315 | 197073649 | 197073649 | Nonsense_Mutation | G | A | p.R1578* |
| BLCA | TCGA-4Z-AA7M-01 | exon_skip_35193 | 197069561 | 197074315 | 197073959 | 197073959 | Nonsense_Mutation | C | T | p.W1474* |
| PAAD | TCGA-IB-7651-01 | exon_skip_35193 | 197069561 | 197074315 | 197074013 | 197074013 | Nonsense_Mutation | C | T | p.W1456* |
| PAAD | TCGA-IB-7651-01 | exon_skip_35193 | 197069561 | 197074315 | 197074013 | 197074013 | Nonsense_Mutation | C | T | p.W1456X |
| LGG | TCGA-DU-6392-01 | exon_skip_35193 | 197069561 | 197074315 | 197074288 | 197074288 | Nonsense_Mutation | G | A | p.Q1365* |
| STAD | TCGA-HF-A5NB-01 | exon_skip_35194 | 197097620 | 197097795 | 197097797 | 197097797 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-A6-6781-01 |
| Cancer type: COAD | |
| ESID: exon_skip_35193 | |
| Skipped exon start: 197069561 | |
| Skipped exon end: 197074315 | |
| Mutation start: 197073532 | |
| Mutation end: 197073532 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R1617X | |
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-F1-6874-01 |
| Cancer type: STAD | |
| ESID: exon_skip_35193 | |
| Skipped exon start: 197069561 | |
| Skipped exon end: 197074315 | |
| Mutation start: 197073232 | |
| Mutation end: 197073232 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.I1717fs | |
exon_skip_115384_STAD_TCGA-F1-6874-01.png | |
exon_skip_13071_STAD_TCGA-F1-6874-01.png | |
exon_skip_18752_STAD_TCGA-F1-6874-01.png | |
exon_skip_25091_STAD_TCGA-F1-6874-01.png | |
exon_skip_289262_STAD_TCGA-F1-6874-01.png | |
exon_skip_30081_STAD_TCGA-F1-6874-01.png | |
exon_skip_35193_STAD_TCGA-F1-6874-01.png | |
exon_skip_376457_STAD_TCGA-F1-6874-01.png | |
exon_skip_377858_STAD_TCGA-F1-6874-01.png | |
exon_skip_457165_STAD_TCGA-F1-6874-01.png | |
exon_skip_457524_STAD_TCGA-F1-6874-01.png | |
exon_skip_483956_STAD_TCGA-F1-6874-01.png | |
exon_skip_69788_STAD_TCGA-F1-6874-01.png | |
exon_skip_77254_STAD_TCGA-F1-6874-01.png | |
 | Sample: TCGA-BR-8361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_35193 | |
| Skipped exon start: 197069561 | |
| Skipped exon end: 197074315 | |
| Mutation start: 197071072 | |
| Mutation end: 197071073 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.V2437fs | |
| Sample: TCGA-BR-8361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_35193 | |
| Skipped exon start: 197069561 | |
| Skipped exon end: 197074315 | |
| Mutation start: 197071073 | |
| Mutation end: 197071074 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.F2436fs | |
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-8602-01 |
| Cancer type: STAD | |
| ESID: exon_skip_35193 | |
| Skipped exon start: 197069561 | |
| Skipped exon end: 197074315 | |
| Mutation start: 197073232 | |
| Mutation end: 197073232 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.I1717fs | |
exon_skip_110606_STAD_TCGA-HU-8602-01.png | |
exon_skip_12723_STAD_TCGA-HU-8602-01.png | |
exon_skip_12741_STAD_TCGA-HU-8602-01.png | |
exon_skip_129202_STAD_TCGA-HU-8602-01.png | |
exon_skip_142361_STAD_TCGA-HU-8602-01.png | |
exon_skip_17013_STAD_TCGA-HU-8602-01.png | |
exon_skip_28391_STAD_TCGA-HU-8602-01.png | |
exon_skip_328529_STAD_TCGA-HU-8602-01.png | |
exon_skip_35193_STAD_TCGA-HU-8602-01.png | |
exon_skip_364609_STAD_TCGA-HU-8602-01.png | |
exon_skip_3733_STAD_TCGA-HU-8602-01.png | |
exon_skip_3734_STAD_TCGA-HU-8602-01.png | |
exon_skip_424540_STAD_TCGA-HU-8602-01.png | |
exon_skip_443675_STAD_TCGA-HU-8602-01.png | |
exon_skip_466134_STAD_TCGA-HU-8602-01.png | |
exon_skip_475115_STAD_TCGA-HU-8602-01.png | |
exon_skip_482067_STAD_TCGA-HU-8602-01.png | |
exon_skip_489785_STAD_TCGA-HU-8602-01.png | |
exon_skip_489794_STAD_TCGA-HU-8602-01.png | |
exon_skip_493826_STAD_TCGA-HU-8602-01.png | |
exon_skip_493827_STAD_TCGA-HU-8602-01.png | |
exon_skip_51385_STAD_TCGA-HU-8602-01.png | |
exon_skip_81726_STAD_TCGA-HU-8602-01.png | |
exon_skip_84502_STAD_TCGA-HU-8602-01.png | |
exon_skip_96034_STAD_TCGA-HU-8602-01.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 |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197069715 | 197069715 | Frame_Shift_Del | A | - | p.L2889fs |
| HT55_LARGE_INTESTINE | 197069561 | 197074315 | 197069874 | 197069875 | Frame_Shift_Del | TG | - | p.Q2836fs |
| LNCAPCLONEFGC_PROSTATE | 197069561 | 197074315 | 197070524 | 197070524 | Frame_Shift_Del | T | - | p.K2619fs |
| SAT_UPPER_AERODIGESTIVE_TRACT | 197069561 | 197074315 | 197070788 | 197070788 | Frame_Shift_Del | C | - | p.W2531fs |
| HEC108_ENDOMETRIUM | 197069561 | 197074315 | 197071085 | 197071085 | Frame_Shift_Del | T | - | p.K2432fs |
| HEC6_ENDOMETRIUM | 197069561 | 197074315 | 197072497 | 197072497 | Frame_Shift_Del | T | - | p.T1962fs |
| RKO_LARGE_INTESTINE | 197069561 | 197074315 | 197072766 | 197072766 | Frame_Shift_Del | A | - | p.L1872fs |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| JHUEM1_ENDOMETRIUM | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| LOVO_LARGE_INTESTINE | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| SNU1040_LARGE_INTESTINE | 197069561 | 197074315 | 197073232 | 197073232 | Frame_Shift_Del | T | - | p.I1717fs |
| HEC6_ENDOMETRIUM | 197069561 | 197074315 | 197073342 | 197073342 | Frame_Shift_Del | T | - | p.N1680fs |
| IM95_STOMACH | 197069561 | 197074315 | 197073342 | 197073342 | Frame_Shift_Del | T | - | p.N1680fs |
| RL952_ENDOMETRIUM | 197069561 | 197074315 | 197073342 | 197073342 | Frame_Shift_Del | T | - | p.N1680fs |
| RKO_LARGE_INTESTINE | 197069561 | 197074315 | 197069741 | 197069742 | Frame_Shift_Ins | - | A | p.L2880fs |
| EN_ENDOMETRIUM | 197069561 | 197074315 | 197070179 | 197070180 | Frame_Shift_Ins | - | T | p.N2734fs |
| CL34_LARGE_INTESTINE | 197069561 | 197074315 | 197071084 | 197071085 | Frame_Shift_Ins | - | T | p.A2433fs |
| CW2_LARGE_INTESTINE | 197069561 | 197074315 | 197071630 | 197071631 | Frame_Shift_Ins | - | A | p.R2251fs |
| CW2_LARGE_INTESTINE | 197069561 | 197074315 | 197071677 | 197071678 | Frame_Shift_Ins | - | T | p.R2235fs |
| MFE319_ENDOMETRIUM | 197069561 | 197074315 | 197073231 | 197073232 | Frame_Shift_Ins | - | T | p.I1717fs |
| EN_ENDOMETRIUM | 197069561 | 197074315 | 197073341 | 197073342 | Frame_Shift_Ins | - | T | p.N1680fs |
| RKO_LARGE_INTESTINE | 197069561 | 197074315 | 197073558 | 197073559 | Frame_Shift_Ins | - | C | p.A1608fs |
| NCIN87_STOMACH | 197069561 | 197074315 | 197073940 | 197073941 | In_Frame_Ins | - | TTC | p.1480_1481insE |
| IGROV1_OVARY | 197061037 | 197061186 | 197061057 | 197061057 | Missense_Mutation | T | A | p.N3142Y |
| NCIH1385_LUNG | 197061037 | 197061186 | 197061084 | 197061084 | Missense_Mutation | C | A | p.A3133S |
| JEG3_PLACENTA | 197061037 | 197061186 | 197061098 | 197061098 | Missense_Mutation | T | C | p.Y3128C |
| WM793_SKIN | 197061037 | 197061186 | 197061104 | 197061104 | Missense_Mutation | C | T | p.R3126K |
| TC106_BONE | 197061037 | 197061186 | 197061108 | 197061108 | Missense_Mutation | G | T | p.Q3125K |
| HEC1B_ENDOMETRIUM | 197061037 | 197061186 | 197061110 | 197061110 | Missense_Mutation | A | T | p.I3124N |
| TE4_OESOPHAGUS | 197061037 | 197061186 | 197061171 | 197061171 | Missense_Mutation | C | A | p.A3104S |
| JHUEM7_ENDOMETRIUM | 197061037 | 197061186 | 197061181 | 197061181 | Missense_Mutation | T | G | p.L3100F |
| DMS454_LUNG | 197069561 | 197074315 | 197069572 | 197069572 | Missense_Mutation | T | C | p.I2937V |
| CP66MEL_SKIN | 197069561 | 197074315 | 197069587 | 197069587 | Missense_Mutation | T | A | p.I2932F |
| SKPNDW_BONE | 197069561 | 197074315 | 197069707 | 197069707 | Missense_Mutation | G | T | p.H2892N |
| HMC18_BREAST | 197069561 | 197074315 | 197069746 | 197069746 | Missense_Mutation | A | C | p.F2879V |
| VMRCLCD_LUNG | 197069561 | 197074315 | 197069824 | 197069824 | Missense_Mutation | G | A | p.R2853W |
| NCIH2023_LUNG | 197069561 | 197074315 | 197069938 | 197069938 | Missense_Mutation | T | A | p.S2815C |
| HCC2998_LARGE_INTESTINE | 197069561 | 197074315 | 197069984 | 197069984 | Missense_Mutation | T | G | p.K2799N |
| A704_KIDNEY | 197069561 | 197074315 | 197070037 | 197070037 | Missense_Mutation | T | G | p.T2782P |
| BB65RCC_KIDNEY | 197069561 | 197074315 | 197070086 | 197070086 | Missense_Mutation | C | G | p.K2765N |
| NCIH2170_LUNG | 197069561 | 197074315 | 197070094 | 197070094 | Missense_Mutation | C | G | p.E2763Q |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197070118 | 197070118 | Missense_Mutation | T | C | p.R2755G |
| SKNDZ_AUTONOMIC_GANGLIA | 197069561 | 197074315 | 197070159 | 197070159 | Missense_Mutation | G | T | p.S2741Y |
| LN235_CENTRAL_NERVOUS_SYSTEM | 197069561 | 197074315 | 197070172 | 197070172 | Missense_Mutation | C | A | p.A2737S |
| TC106_BONE | 197069561 | 197074315 | 197070186 | 197070186 | Missense_Mutation | C | G | p.R2732T |
| GP2D_LARGE_INTESTINE | 197069561 | 197074315 | 197070259 | 197070259 | Missense_Mutation | A | G | p.Y2708H |
| GP5D_LARGE_INTESTINE | 197069561 | 197074315 | 197070259 | 197070259 | Missense_Mutation | A | G | p.Y2708H |
| OVISE_OVARY | 197069561 | 197074315 | 197070312 | 197070312 | Missense_Mutation | C | T | p.R2690Q |
| RXF393_KIDNEY | 197069561 | 197074315 | 197070322 | 197070322 | Missense_Mutation | T | C | p.N2687D |
| M00921_SKIN | 197069561 | 197074315 | 197070328 | 197070328 | Missense_Mutation | T | C | p.I2685V |
| TE4_OESOPHAGUS | 197069561 | 197074315 | 197070331 | 197070331 | Missense_Mutation | C | T | p.D2684N |
| NCIH2347_LUNG | 197069561 | 197074315 | 197070391 | 197070391 | Missense_Mutation | C | A | p.V2664L |
| AN3CA_ENDOMETRIUM | 197069561 | 197074315 | 197070435 | 197070435 | Missense_Mutation | G | A | p.A2649V |
| KYSE150_OESOPHAGUS | 197069561 | 197074315 | 197070438 | 197070438 | Missense_Mutation | C | T | p.R2648K |
| TO175T_FIBROBLAST | 197069561 | 197074315 | 197070451 | 197070451 | Missense_Mutation | A | T | p.Y2644N |
| OVCAR8_OVARY | 197069561 | 197074315 | 197070483 | 197070483 | Missense_Mutation | T | G | p.K2633T |
| SNU1040_LARGE_INTESTINE | 197069561 | 197074315 | 197070553 | 197070553 | Missense_Mutation | C | T | p.A2610T |
| ASH3_THYROID | 197069561 | 197074315 | 197070604 | 197070604 | Missense_Mutation | T | C | p.K2593E |
| SNU81_LARGE_INTESTINE | 197069561 | 197074315 | 197070621 | 197070621 | Missense_Mutation | T | C | p.Y2587C |
| HSC1_SKIN | 197069561 | 197074315 | 197070655 | 197070655 | Missense_Mutation | G | A | p.L2576F |
| HEC265_ENDOMETRIUM | 197069561 | 197074315 | 197070690 | 197070690 | Missense_Mutation | T | C | p.Y2564C |
| EFO27_OVARY | 197069561 | 197074315 | 197070706 | 197070706 | Missense_Mutation | C | T | p.V2559I |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197070706 | 197070706 | Missense_Mutation | C | T | p.V2559I |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197070706 | 197070706 | Missense_Mutation | C | T | p.V2559I |
| HEC251_ENDOMETRIUM | 197069561 | 197074315 | 197070711 | 197070711 | Missense_Mutation | G | T | p.S2557Y |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197070721 | 197070721 | Missense_Mutation | G | A | p.H2554Y |
| MDAMB453_BREAST | 197069561 | 197074315 | 197070828 | 197070828 | Missense_Mutation | C | T | p.R2518K |
| HEC265_ENDOMETRIUM | 197069561 | 197074315 | 197070831 | 197070831 | Missense_Mutation | T | C | p.Y2517C |
| HEC6_ENDOMETRIUM | 197069561 | 197074315 | 197070837 | 197070837 | Missense_Mutation | C | T | p.R2515Q |
| CCK81_LARGE_INTESTINE | 197069561 | 197074315 | 197070837 | 197070837 | Missense_Mutation | C | T | p.R2515Q |
| C10_LARGE_INTESTINE | 197069561 | 197074315 | 197070843 | 197070843 | Missense_Mutation | T | C | p.H2513R |
| BXPC3_PANCREAS | 197069561 | 197074315 | 197071010 | 197071010 | Missense_Mutation | T | G | p.L2457F |
| NCIH2009_LUNG | 197069561 | 197074315 | 197071152 | 197071152 | Missense_Mutation | G | A | p.S2410F |
| MEWO_SKIN | 197069561 | 197074315 | 197071204 | 197071204 | Missense_Mutation | C | T | p.A2393T |
| HT55_LARGE_INTESTINE | 197069561 | 197074315 | 197071227 | 197071227 | Missense_Mutation | C | A | p.R2385I |
| KYSE30_OESOPHAGUS | 197069561 | 197074315 | 197071325 | 197071325 | Missense_Mutation | C | G | p.M2352I |
| SNU1040_LARGE_INTESTINE | 197069561 | 197074315 | 197071351 | 197071351 | Missense_Mutation | T | C | p.T2344A |
| KYSE150_OESOPHAGUS | 197069561 | 197074315 | 197071386 | 197071386 | Missense_Mutation | C | T | p.R2332Q |
| LU134A_LUNG | 197069561 | 197074315 | 197071386 | 197071386 | Missense_Mutation | C | T | p.R2332Q |
| CAL120_BREAST | 197069561 | 197074315 | 197071434 | 197071434 | Missense_Mutation | A | G | p.I2316T |
| TOV21G_OVARY | 197069561 | 197074315 | 197071491 | 197071491 | Missense_Mutation | C | T | p.R2297Q |
| GSS_STOMACH | 197069561 | 197074315 | 197071620 | 197071620 | Missense_Mutation | T | C | p.K2254R |
| HCC1428_BREAST | 197069561 | 197074315 | 197071640 | 197071640 | Missense_Mutation | C | G | p.Q2247H |
| NCCSTCK140_STOMACH | 197069561 | 197074315 | 197071648 | 197071648 | Missense_Mutation | A | G | p.Y2245H |
| SNU1033_LARGE_INTESTINE | 197069561 | 197074315 | 197071648 | 197071648 | Missense_Mutation | A | G | p.Y2245H |
| JHUEM7_ENDOMETRIUM | 197069561 | 197074315 | 197071684 | 197071684 | Missense_Mutation | A | C | p.F2233V |
| CORL321_PLEURA | 197069561 | 197074315 | 197071978 | 197071978 | Missense_Mutation | T | A | p.S2135C |
| HCC2450_LUNG | 197069561 | 197074315 | 197072058 | 197072058 | Missense_Mutation | C | G | p.R2108T |
| GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197072086 | 197072086 | Missense_Mutation | T | G | p.K2099Q |
| TTC709_SOFT_TISSUE | 197069561 | 197074315 | 197072116 | 197072116 | Missense_Mutation | C | T | p.E2089K |
| STM9101_SOFT_TISSUE | 197069561 | 197074315 | 197072116 | 197072116 | Missense_Mutation | C | T | p.E2089K |
| CHP126_AUTONOMIC_GANGLIA | 197069561 | 197074315 | 197072131 | 197072131 | Missense_Mutation | T | G | p.N2084H |
| OC316_OVARY | 197069561 | 197074315 | 197072215 | 197072215 | Missense_Mutation | C | T | p.A2056T |
| OC314_OVARY | 197069561 | 197074315 | 197072215 | 197072215 | Missense_Mutation | C | T | p.A2056T |
| A427_LUNG | 197069561 | 197074315 | 197072323 | 197072323 | Missense_Mutation | T | C | p.T2020A |
| ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197072353 | 197072353 | Missense_Mutation | C | T | p.G2010R |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197072428 | 197072428 | Missense_Mutation | C | T | p.V1985M |
| CW2_LARGE_INTESTINE | 197069561 | 197074315 | 197072471 | 197072471 | Missense_Mutation | T | A | p.Q1970H |
| MDAMB361_BREAST | 197069561 | 197074315 | 197072558 | 197072558 | Missense_Mutation | A | C | p.C1941W |
| CAL33_UPPER_AERODIGESTIVE_TRACT | 197069561 | 197074315 | 197072583 | 197072583 | Missense_Mutation | G | C | p.A1933G |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197072588 | 197072588 | Missense_Mutation | G | T | p.F1931L |
| OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197072622 | 197072622 | Missense_Mutation | A | G | p.F1920S |
| OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197072622 | 197072622 | Missense_Mutation | A | G | p.F1920S |
| CAL39_VULVA | 197069561 | 197074315 | 197072671 | 197072671 | Missense_Mutation | T | C | p.I1904V |
| ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197072784 | 197072785 | Missense_Mutation | TC | AT | p.D1866I |
| EW13_BONE | 197069561 | 197074315 | 197072825 | 197072825 | Missense_Mutation | T | C | p.I1852M |
| SIHA_CERVIX | 197069561 | 197074315 | 197072859 | 197072859 | Missense_Mutation | C | A | p.R1841M |
| 2313287_STOMACH | 197069561 | 197074315 | 197072907 | 197072907 | Missense_Mutation | G | T | p.S1825Y |
| NCIH2172_LUNG | 197069561 | 197074315 | 197072910 | 197072910 | Missense_Mutation | T | C | p.Q1824R |
| HCT15_LARGE_INTESTINE | 197069561 | 197074315 | 197072967 | 197072967 | Missense_Mutation | G | T | p.A1805D |
| ESS1_ENDOMETRIUM | 197069561 | 197074315 | 197073042 | 197073042 | Missense_Mutation | A | G | p.V1780A |
| TCCSUP_URINARY_TRACT | 197069561 | 197074315 | 197073046 | 197073046 | Missense_Mutation | T | C | p.I1779V |
| PLCPRF5_LIVER | 197069561 | 197074315 | 197073048 | 197073048 | Missense_Mutation | A | G | p.I1778T |
| SNU738_CENTRAL_NERVOUS_SYSTEM | 197069561 | 197074315 | 197073074 | 197073074 | Missense_Mutation | C | A | p.Q1769H |
| L33_PANCREAS | 197069561 | 197074315 | 197073094 | 197073094 | Missense_Mutation | T | C | p.R1763G |
| HEC108_ENDOMETRIUM | 197069561 | 197074315 | 197073147 | 197073147 | Missense_Mutation | C | T | p.R1745Q |
| TGBC11TKB_STOMACH | 197069561 | 197074315 | 197073147 | 197073147 | Missense_Mutation | C | T | p.R1745Q |
| EVSAT_BREAST | 197069561 | 197074315 | 197073182 | 197073182 | Missense_Mutation | G | C | p.I1733M |
| NCIH1703_LUNG | 197069561 | 197074315 | 197073195 | 197073195 | Missense_Mutation | C | A | p.R1729L |
| COLO792_SKIN | 197069561 | 197074315 | 197073240 | 197073240 | Missense_Mutation | G | A | p.S1714F |
| RH36_SOFT_TISSUE | 197069561 | 197074315 | 197073295 | 197073295 | Missense_Mutation | T | G | p.K1696Q |
| EW8_BONE | 197069561 | 197074315 | 197073297 | 197073297 | Missense_Mutation | C | T | p.R1695H |
| RH1_SOFT_TISSUE | 197069561 | 197074315 | 197073297 | 197073297 | Missense_Mutation | C | T | p.R1695H |
| KYSE140_OESOPHAGUS | 197069561 | 197074315 | 197073326 | 197073326 | Missense_Mutation | C | A | p.L1685F |
| ES2_OVARY | 197069561 | 197074315 | 197073339 | 197073339 | Missense_Mutation | G | A | p.A1681V |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197073507 | 197073507 | Missense_Mutation | A | C | p.V1625G |
| SNU1040_LARGE_INTESTINE | 197069561 | 197074315 | 197073516 | 197073516 | Missense_Mutation | G | A | p.A1622V |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 197069561 | 197074315 | 197073558 | 197073558 | Missense_Mutation | G | T | p.A1608E |
| NCIH2172_LUNG | 197069561 | 197074315 | 197073585 | 197073585 | Missense_Mutation | C | T | p.R1599Q |
| CW2_LARGE_INTESTINE | 197069561 | 197074315 | 197073693 | 197073693 | Missense_Mutation | G | A | p.A1563V |
| NCIH1435_LUNG | 197069561 | 197074315 | 197073824 | 197073824 | Missense_Mutation | C | A | p.K1519N |
| J82_MATCHED_NORMAL_TISSUE | 197069561 | 197074315 | 197073834 | 197073834 | Missense_Mutation | G | C | p.T1516S |
| J82_URINARY_TRACT | 197069561 | 197074315 | 197073834 | 197073834 | Missense_Mutation | G | C | p.T1516S |
| HT115_LARGE_INTESTINE | 197069561 | 197074315 | 197073886 | 197073886 | Missense_Mutation | G | A | p.R1499W |
| DU145_PROSTATE | 197069561 | 197074315 | 197073910 | 197073910 | Missense_Mutation | C | A | p.V1491F |
| MRKNU1_BREAST | 197069561 | 197074315 | 197073918 | 197073918 | Missense_Mutation | C | A | p.R1488I |
| LC2AD_LUNG | 197069561 | 197074315 | 197073936 | 197073936 | Missense_Mutation | C | T | p.R1482Q |
| SNU1040_LARGE_INTESTINE | 197069561 | 197074315 | 197073968 | 197073968 | Missense_Mutation | T | C | p.I1471M |
| BB65EBV_MATCHED_NORMAL_TISSUE | 197069561 | 197074315 | 197073987 | 197073987 | Missense_Mutation | T | G | p.E1465A |
| GAK_SKIN | 197069561 | 197074315 | 197074035 | 197074035 | Missense_Mutation | A | G | p.L1449S |
| MDAMB231_BREAST | 197069561 | 197074315 | 197074117 | 197074117 | Missense_Mutation | A | G | p.S1422P |
| HEC251_ENDOMETRIUM | 197069561 | 197074315 | 197074201 | 197074201 | Missense_Mutation | G | T | p.L1394I |
| WM88_SKIN | 197069561 | 197074315 | 197074215 | 197074215 | Missense_Mutation | G | A | p.S1389F |
| NCIH441_LUNG | 197069561 | 197074315 | 197074260 | 197074260 | Missense_Mutation | G | A | p.S1374L |
| SKUT1_SOFT_TISSUE | 197097620 | 197097795 | 197097627 | 197097627 | Missense_Mutation | G | A | p.R977C |
| HEC50B_ENDOMETRIUM | 197097620 | 197097795 | 197097640 | 197097640 | Missense_Mutation | C | A | p.L972F |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197097620 | 197097795 | 197097648 | 197097648 | Missense_Mutation | C | T | p.V970I |
| NCIH1793_LUNG | 197108897 | 197109001 | 197108939 | 197108939 | Missense_Mutation | C | A | p.V662L |
| EBC1_LUNG | 197108897 | 197109001 | 197108957 | 197108957 | Missense_Mutation | T | C | p.T656A |
| JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197108897 | 197109001 | 197108957 | 197108957 | Missense_Mutation | T | C | p.T656A |
| PLCPRF5_LIVER | 197108897 | 197109001 | 197108974 | 197108974 | Missense_Mutation | G | C | p.S650C |
| SW684_SOFT_TISSUE | 197108897 | 197109001 | 197108995 | 197108995 | Missense_Mutation | G | A | p.S643L |
| SNU1040_LARGE_INTESTINE | 197069561 | 197074315 | 197071207 | 197071207 | Nonsense_Mutation | G | A | p.Q2392* |
| HEC6_ENDOMETRIUM | 197069561 | 197074315 | 197071238 | 197071238 | Nonsense_Mutation | A | T | p.Y2381* |
| MALME3M_SKIN | 197069561 | 197074315 | 197071462 | 197071462 | Nonsense_Mutation | G | A | p.Q2307* |
| NCIH2795_PLEURA | 197069561 | 197074315 | 197071673 | 197071673 | Nonsense_Mutation | A | T | p.Y2236* |
| 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197069561 | 197074315 | 197073544 | 197073544 | Nonsense_Mutation | G | A | p.Q1613* |
| COLO792_SKIN | 197069561 | 197074315 | 197074099 | 197074099 | Nonsense_Mutation | G | A | p.Q1428* |
| MCF7_BREAST | 197069561 | 197074315 | 197074298 | 197074298 | Nonsense_Mutation | A | T | p.Y1361* |
| SYO1_SOFT_TISSUE | 197069561 | 197074315 | 197074308 | 197074308 | Nonsense_Mutation | C | T | p.W1358* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASPM |
| 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 ASPM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASPM |
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RelatedDrugs for ASPM |
| 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 ASPM |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ASPM | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| ASPM | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| ASPM | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
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