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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 MRVI1 |
 Gene summary |
| Gene information | Gene symbol | MRVI1 | Gene ID | 10335 |
| Gene name | murine retrovirus integration site 1 homolog | |
| Synonyms | IRAG|JAW1L | |
| Cytomap | 11p15.4 | |
| Type of gene | protein-coding | |
| Description | protein MRVI1IP3R-associated cGMP kinase substrateJAW1-related protein MRVI1inositol 1,4,5-triphosphate receptor-associated cGMP kinase substrateinositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y6F6 | |
| Context | PubMed: MRVI1 [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 MRVI1 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 MRVI1 |
| 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 MRVI1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69112 | 11 | 10615038:10615146:10615692:10615742:10622464:10622606 | 10615692:10615742 | ENSG00000072952.14 | ENST00000527509.2,ENST00000531107.1,ENST00000541483.1,ENST00000421747.1,ENST00000534266.2,ENST00000552103.1,ENST00000424001.1,ENST00000545852.1,ENST00000529448.1,ENST00000547195.1,ENST00000558540.1,ENST00000436272.1,ENST00000423302.2 |
| exon_skip_69113 | 11 | 10645324:10645403:10647512:10648130:10649262:10649304 | 10647512:10648130 | ENSG00000072952.14 | ENST00000527509.2,ENST00000531107.1,ENST00000421747.1,ENST00000534266.2,ENST00000552103.1,ENST00000424001.1,ENST00000545852.1,ENST00000529448.1,ENST00000547195.1,ENST00000558540.1,ENST00000436272.1,ENST00000423302.2 |
| exon_skip_69114 | 11 | 10647512:10648130:10649262:10649307:10649519:10649572 | 10649262:10649307 | ENSG00000072952.14 | ENST00000527509.2,ENST00000421747.1,ENST00000552103.1,ENST00000424001.1,ENST00000545852.1,ENST00000547195.1,ENST00000423302.2 |
| exon_skip_69115 | 11 | 10647512:10648130:10649262:10649310:10649519:10649572 | 10649262:10649310 | ENSG00000072952.14 | ENST00000531107.1,ENST00000558540.1 |
| exon_skip_69116 | 11 | 10649262:10649307:10649519:10649572:10650297:10650375 | 10649519:10649572 | ENSG00000072952.14 | ENST00000527509.2,ENST00000541483.1,ENST00000421747.1,ENST00000552103.1,ENST00000424001.1,ENST00000545852.1,ENST00000526414.1,ENST00000547195.1,ENST00000423302.2 |
| exon_skip_69117 | 11 | 10649262:10649310:10649519:10649572:10650297:10650375 | 10649519:10649572 | ENSG00000072952.14 | ENST00000531107.1,ENST00000558540.1 |
| exon_skip_69118 | 11 | 10649519:10649572:10650297:10650375:10651084:10651258 | 10650297:10650375 | ENSG00000072952.14 | ENST00000527509.2,ENST00000531107.1,ENST00000541483.1,ENST00000421747.1,ENST00000552103.1,ENST00000424001.1,ENST00000545852.1,ENST00000526414.1,ENST00000547195.1,ENST00000558540.1,ENST00000423302.2 |
| exon_skip_69119 | 11 | 10651231:10651258:10651552:10651618:10653537:10653608 | 10651552:10651618 | ENSG00000072952.14 | ENST00000532037.1 |
| exon_skip_69120 | 11 | 10651231:10651258:10653537:10653608:10673571:10673729 | 10653537:10653608 | ENSG00000072952.14 | ENST00000424001.1,ENST00000558540.1 |
| exon_skip_69125 | 11 | 10653578:10653608:10655514:10655618:10673571:10673729 | 10655514:10655618 | ENSG00000072952.14 | ENST00000531107.1,ENST00000541483.1,ENST00000529547.1,ENST00000552103.1,ENST00000545852.1,ENST00000436272.1,ENST00000423302.2 |
| exon_skip_69126 | 11 | 10653578:10653608:10655514:10655618:10711811:10711912 | 10655514:10655618 | ENSG00000072952.14 | ENST00000527509.2 |
| exon_skip_69128 | 11 | 10653578:10653608:10655514:10655618:10715082:10715123 | 10655514:10655618 | ENSG00000072952.14 | ENST00000529448.1,ENST00000547195.1 |
| exon_skip_69129 | 11 | 10653578:10653608:10655514:10655621:10673571:10673729 | 10655514:10655621 | ENSG00000072952.14 | ENST00000532037.1,ENST00000534266.2,ENST00000526414.1 |
| exon_skip_69130 | 11 | 10653578:10653608:10673571:10673729:10711811:10711912 | 10673571:10673729 | ENSG00000072952.14 | ENST00000558540.1 |
| exon_skip_69132 | 11 | 10653578:10653608:10673571:10673729:10715082:10715123 | 10673571:10673729 | ENSG00000072952.14 | ENST00000531786.1 |
| exon_skip_69141 | 11 | 10655514:10655618:10673571:10673729:10715082:10715123 | 10673571:10673729 | ENSG00000072952.14 | ENST00000541483.1,ENST00000423302.2 |
| exon_skip_69145 | 11 | 10655514:10655618:10709055:10709324:10711811:10711912 | 10709055:10709324 | ENSG00000072952.14 | ENST00000529068.1 |
| exon_skip_69154 | 11 | 10655514:10655618:10711811:10711916:10715082:10715123 | 10711811:10711916 | ENSG00000072952.14 | ENST00000527509.2 |
| exon_skip_69157 | 11 | 10673650:10673729:10679930:10680126:10715008:10715061 | 10679930:10680126 | ENSG00000072952.14 | ENST00000529547.1 |
| exon_skip_69161 | 11 | 10673650:10673729:10709055:10709324:10711811:10711912 | 10709055:10709324 | ENSG00000072952.14 | ENST00000531308.1 |
| exon_skip_69169 | 11 | 10673650:10673729:10711811:10711916:10715008:10715061 | 10711811:10711916 | ENSG00000072952.14 | ENST00000558540.1 |
| exon_skip_69177 | 11 | 10709055:10709324:10711811:10711916:10715082:10715123 | 10711811:10711916 | ENSG00000072952.14 | ENST00000531308.1,ENST00000529068.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MRVI1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69112 | 11 | 10615038:10615146:10615692:10615742:10622464:10622606 | 10615692:10615742 | ENSG00000072952.14 | ENST00000421747.1,ENST00000436272.1,ENST00000547195.1,ENST00000552103.1,ENST00000545852.1,ENST00000424001.1,ENST00000423302.2,ENST00000558540.1,ENST00000541483.1,ENST00000531107.1,ENST00000527509.2,ENST00000534266.2,ENST00000529448.1 |
| exon_skip_69113 | 11 | 10645324:10645403:10647512:10648130:10649262:10649304 | 10647512:10648130 | ENSG00000072952.14 | ENST00000421747.1,ENST00000436272.1,ENST00000547195.1,ENST00000552103.1,ENST00000545852.1,ENST00000424001.1,ENST00000423302.2,ENST00000558540.1,ENST00000531107.1,ENST00000527509.2,ENST00000534266.2,ENST00000529448.1 |
| exon_skip_69114 | 11 | 10647512:10648130:10649262:10649307:10649519:10649572 | 10649262:10649307 | ENSG00000072952.14 | ENST00000421747.1,ENST00000547195.1,ENST00000552103.1,ENST00000545852.1,ENST00000424001.1,ENST00000423302.2,ENST00000527509.2 |
| exon_skip_69115 | 11 | 10647512:10648130:10649262:10649310:10649519:10649572 | 10649262:10649310 | ENSG00000072952.14 | ENST00000558540.1,ENST00000531107.1 |
| exon_skip_69116 | 11 | 10649262:10649307:10649519:10649572:10650297:10650375 | 10649519:10649572 | ENSG00000072952.14 | ENST00000421747.1,ENST00000547195.1,ENST00000552103.1,ENST00000545852.1,ENST00000424001.1,ENST00000423302.2,ENST00000541483.1,ENST00000527509.2,ENST00000526414.1 |
| exon_skip_69117 | 11 | 10649262:10649310:10649519:10649572:10650297:10650375 | 10649519:10649572 | ENSG00000072952.14 | ENST00000558540.1,ENST00000531107.1 |
| exon_skip_69118 | 11 | 10649519:10649572:10650297:10650375:10651084:10651258 | 10650297:10650375 | ENSG00000072952.14 | ENST00000421747.1,ENST00000547195.1,ENST00000552103.1,ENST00000545852.1,ENST00000424001.1,ENST00000423302.2,ENST00000558540.1,ENST00000541483.1,ENST00000531107.1,ENST00000527509.2,ENST00000526414.1 |
| exon_skip_69119 | 11 | 10651231:10651258:10651552:10651618:10653537:10653608 | 10651552:10651618 | ENSG00000072952.14 | ENST00000532037.1 |
| exon_skip_69120 | 11 | 10651231:10651258:10653537:10653608:10673571:10673729 | 10653537:10653608 | ENSG00000072952.14 | ENST00000424001.1,ENST00000558540.1 |
| exon_skip_69125 | 11 | 10653578:10653608:10655514:10655618:10673571:10673729 | 10655514:10655618 | ENSG00000072952.14 | ENST00000436272.1,ENST00000552103.1,ENST00000545852.1,ENST00000423302.2,ENST00000541483.1,ENST00000531107.1,ENST00000529547.1 |
| exon_skip_69126 | 11 | 10653578:10653608:10655514:10655618:10711811:10711912 | 10655514:10655618 | ENSG00000072952.14 | ENST00000527509.2 |
| exon_skip_69128 | 11 | 10653578:10653608:10655514:10655618:10715082:10715123 | 10655514:10655618 | ENSG00000072952.14 | ENST00000547195.1,ENST00000529448.1 |
| exon_skip_69129 | 11 | 10653578:10653608:10655514:10655621:10673571:10673729 | 10655514:10655621 | ENSG00000072952.14 | ENST00000534266.2,ENST00000526414.1,ENST00000532037.1 |
| exon_skip_69130 | 11 | 10653578:10653608:10673571:10673729:10711811:10711912 | 10673571:10673729 | ENSG00000072952.14 | ENST00000558540.1 |
| exon_skip_69132 | 11 | 10653578:10653608:10673571:10673729:10715082:10715123 | 10673571:10673729 | ENSG00000072952.14 | ENST00000531786.1 |
| exon_skip_69141 | 11 | 10655514:10655618:10673571:10673729:10715082:10715123 | 10673571:10673729 | ENSG00000072952.14 | ENST00000423302.2,ENST00000541483.1 |
| exon_skip_69145 | 11 | 10655514:10655618:10709055:10709324:10711811:10711912 | 10709055:10709324 | ENSG00000072952.14 | ENST00000529068.1 |
| exon_skip_69154 | 11 | 10655514:10655618:10711811:10711916:10715082:10715123 | 10711811:10711916 | ENSG00000072952.14 | ENST00000527509.2 |
| exon_skip_69157 | 11 | 10673650:10673729:10679930:10680126:10715008:10715061 | 10679930:10680126 | ENSG00000072952.14 | ENST00000529547.1 |
| exon_skip_69161 | 11 | 10673650:10673729:10709055:10709324:10711811:10711912 | 10709055:10709324 | ENSG00000072952.14 | ENST00000531308.1 |
| exon_skip_69169 | 11 | 10673650:10673729:10711811:10711916:10715008:10715061 | 10711811:10711916 | ENSG00000072952.14 | ENST00000558540.1 |
| exon_skip_69177 | 11 | 10709055:10709324:10711811:10711916:10715082:10715123 | 10711811:10711916 | ENSG00000072952.14 | ENST00000529068.1,ENST00000531308.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MRVI1 |
| 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 |
| ENST00000424001 | 10647512 | 10648130 | 3UTR-3CDS |
| ENST00000534266 | 10647512 | 10648130 | 3UTR-3CDS |
| ENST00000558540 | 10647512 | 10648130 | 3UTR-3CDS |
| ENST00000547195 | 10655514 | 10655618 | 3UTR-3CDS |
| ENST00000424001 | 10649262 | 10649307 | 3UTR-3UTR |
| ENST00000558540 | 10649262 | 10649310 | 3UTR-3UTR |
| ENST00000424001 | 10649519 | 10649572 | 3UTR-3UTR |
| ENST00000558540 | 10649519 | 10649572 | 3UTR-3UTR |
| ENST00000424001 | 10650297 | 10650375 | 3UTR-3UTR |
| ENST00000558540 | 10650297 | 10650375 | 3UTR-3UTR |
| ENST00000424001 | 10653537 | 10653608 | 3UTR-3UTR |
| ENST00000558540 | 10653537 | 10653608 | 3UTR-3UTR |
| ENST00000534266 | 10655514 | 10655621 | 3UTR-3UTR |
| ENST00000558540 | 10673571 | 10673729 | 3UTR-3UTR |
| ENST00000558540 | 10711811 | 10711916 | 3UTR-3UTR |
| ENST00000423302 | 10615692 | 10615742 | Frame-shift |
| ENST00000424001 | 10615692 | 10615742 | Frame-shift |
| ENST00000531107 | 10615692 | 10615742 | Frame-shift |
| ENST00000534266 | 10615692 | 10615742 | Frame-shift |
| ENST00000541483 | 10615692 | 10615742 | Frame-shift |
| ENST00000547195 | 10615692 | 10615742 | Frame-shift |
| ENST00000558540 | 10615692 | 10615742 | Frame-shift |
| ENST00000423302 | 10649519 | 10649572 | Frame-shift |
| ENST00000531107 | 10649519 | 10649572 | Frame-shift |
| ENST00000541483 | 10649519 | 10649572 | Frame-shift |
| ENST00000547195 | 10649519 | 10649572 | Frame-shift |
| ENST00000423302 | 10655514 | 10655618 | Frame-shift |
| ENST00000531107 | 10655514 | 10655618 | Frame-shift |
| ENST00000541483 | 10655514 | 10655618 | Frame-shift |
| ENST00000423302 | 10673571 | 10673729 | Frame-shift |
| ENST00000541483 | 10673571 | 10673729 | Frame-shift |
| ENST00000423302 | 10647512 | 10648130 | In-frame |
| ENST00000531107 | 10647512 | 10648130 | In-frame |
| ENST00000547195 | 10647512 | 10648130 | In-frame |
| ENST00000423302 | 10649262 | 10649307 | In-frame |
| ENST00000531107 | 10649262 | 10649310 | In-frame |
| ENST00000547195 | 10649262 | 10649307 | In-frame |
| ENST00000423302 | 10650297 | 10650375 | In-frame |
| ENST00000531107 | 10650297 | 10650375 | In-frame |
| ENST00000541483 | 10650297 | 10650375 | In-frame |
| ENST00000547195 | 10650297 | 10650375 | 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 |
| ENST00000424001 | 10647512 | 10648130 | 3UTR-3CDS |
| ENST00000534266 | 10647512 | 10648130 | 3UTR-3CDS |
| ENST00000558540 | 10647512 | 10648130 | 3UTR-3CDS |
| ENST00000547195 | 10655514 | 10655618 | 3UTR-3CDS |
| ENST00000424001 | 10649262 | 10649307 | 3UTR-3UTR |
| ENST00000558540 | 10649262 | 10649310 | 3UTR-3UTR |
| ENST00000424001 | 10649519 | 10649572 | 3UTR-3UTR |
| ENST00000558540 | 10649519 | 10649572 | 3UTR-3UTR |
| ENST00000424001 | 10650297 | 10650375 | 3UTR-3UTR |
| ENST00000558540 | 10650297 | 10650375 | 3UTR-3UTR |
| ENST00000424001 | 10653537 | 10653608 | 3UTR-3UTR |
| ENST00000558540 | 10653537 | 10653608 | 3UTR-3UTR |
| ENST00000534266 | 10655514 | 10655621 | 3UTR-3UTR |
| ENST00000558540 | 10673571 | 10673729 | 3UTR-3UTR |
| ENST00000558540 | 10711811 | 10711916 | 3UTR-3UTR |
| ENST00000423302 | 10615692 | 10615742 | Frame-shift |
| ENST00000424001 | 10615692 | 10615742 | Frame-shift |
| ENST00000531107 | 10615692 | 10615742 | Frame-shift |
| ENST00000534266 | 10615692 | 10615742 | Frame-shift |
| ENST00000541483 | 10615692 | 10615742 | Frame-shift |
| ENST00000547195 | 10615692 | 10615742 | Frame-shift |
| ENST00000558540 | 10615692 | 10615742 | Frame-shift |
| ENST00000423302 | 10649519 | 10649572 | Frame-shift |
| ENST00000531107 | 10649519 | 10649572 | Frame-shift |
| ENST00000541483 | 10649519 | 10649572 | Frame-shift |
| ENST00000547195 | 10649519 | 10649572 | Frame-shift |
| ENST00000423302 | 10655514 | 10655618 | Frame-shift |
| ENST00000531107 | 10655514 | 10655618 | Frame-shift |
| ENST00000541483 | 10655514 | 10655618 | Frame-shift |
| ENST00000423302 | 10673571 | 10673729 | Frame-shift |
| ENST00000541483 | 10673571 | 10673729 | Frame-shift |
| ENST00000423302 | 10647512 | 10648130 | In-frame |
| ENST00000531107 | 10647512 | 10648130 | In-frame |
| ENST00000547195 | 10647512 | 10648130 | In-frame |
| ENST00000423302 | 10649262 | 10649307 | In-frame |
| ENST00000531107 | 10649262 | 10649310 | In-frame |
| ENST00000547195 | 10649262 | 10649307 | In-frame |
| ENST00000423302 | 10650297 | 10650375 | In-frame |
| ENST00000531107 | 10650297 | 10650375 | In-frame |
| ENST00000541483 | 10650297 | 10650375 | In-frame |
| ENST00000547195 | 10650297 | 10650375 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MRVI1 |
| 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 |
| ENST00000547195 | 6225 | 904 | 10650297 | 10650375 | 803 | 880 | 100 | 126 |
| ENST00000547195 | 6225 | 904 | 10649262 | 10649307 | 934 | 978 | 144 | 159 |
| ENST00000547195 | 6225 | 904 | 10647512 | 10648130 | 979 | 1596 | 159 | 365 |
| ENST00000531107 | 2904 | 904 | 10650297 | 10650375 | 612 | 689 | 182 | 208 |
| ENST00000423302 | 6143 | 904 | 10650297 | 10650375 | 725 | 802 | 191 | 217 |
| ENST00000541483 | 2485 | 904 | 10650297 | 10650375 | 595 | 672 | 191 | 217 |
| ENST00000531107 | 2904 | 904 | 10649262 | 10649310 | 743 | 790 | 226 | 242 |
| ENST00000423302 | 6143 | 904 | 10649262 | 10649307 | 856 | 900 | 235 | 250 |
| ENST00000531107 | 2904 | 904 | 10647512 | 10648130 | 791 | 1408 | 242 | 448 |
| ENST00000423302 | 6143 | 904 | 10647512 | 10648130 | 901 | 1518 | 250 | 456 |
| 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 |
| ENST00000547195 | 6225 | 904 | 10650297 | 10650375 | 803 | 880 | 100 | 126 |
| ENST00000547195 | 6225 | 904 | 10649262 | 10649307 | 934 | 978 | 144 | 159 |
| ENST00000547195 | 6225 | 904 | 10647512 | 10648130 | 979 | 1596 | 159 | 365 |
| ENST00000531107 | 2904 | 904 | 10650297 | 10650375 | 612 | 689 | 182 | 208 |
| ENST00000423302 | 6143 | 904 | 10650297 | 10650375 | 725 | 802 | 191 | 217 |
| ENST00000541483 | 2485 | 904 | 10650297 | 10650375 | 595 | 672 | 191 | 217 |
| ENST00000531107 | 2904 | 904 | 10649262 | 10649310 | 743 | 790 | 226 | 242 |
| ENST00000423302 | 6143 | 904 | 10649262 | 10649307 | 856 | 900 | 235 | 250 |
| ENST00000531107 | 2904 | 904 | 10647512 | 10648130 | 791 | 1408 | 242 | 448 |
| ENST00000423302 | 6143 | 904 | 10647512 | 10648130 | 901 | 1518 | 250 | 456 |
| 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 MRVI1 |
| - 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. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_69113 | 10647513 | 10648130 | 10647995 | 10647995 | Frame_Shift_Del | G | - | p.L205fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_69113 | 10647513 | 10648130 | 10648006 | 10648006 | Frame_Shift_Del | T | - | p.N201fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_69113 | 10647513 | 10648130 | 10648060 | 10648060 | Frame_Shift_Del | G | - | p.P183fs |
| STAD | TCGA-BR-8295-01 | exon_skip_69118 | 10650298 | 10650375 | 10650316 | 10650316 | Frame_Shift_Del | T | - | p.T212fs |
| SARC | TCGA-HB-A2OT-01 | exon_skip_69120 | 10653538 | 10653608 | 10653562 | 10653562 | Frame_Shift_Del | A | - | p.S117fs |
| SARC | TCGA-HB-A2OT-01 | exon_skip_69120 | 10653538 | 10653608 | 10653562 | 10653562 | Frame_Shift_Del | A | - | p.S35fs |
| BLCA | TCGA-ZF-AA4V-01 | exon_skip_69130 exon_skip_69132 exon_skip_69141 | 10673572 | 10673729 | 10673582 | 10673582 | Frame_Shift_Del | G | - | p.P72fs |
| COAD | TCGA-AZ-4315-01 | exon_skip_69113 | 10647513 | 10648130 | 10647680 | 10647680 | Nonsense_Mutation | C | A | p.E310X |
| SKCM | TCGA-W3-A824-06 | exon_skip_69113 | 10647513 | 10648130 | 10647696 | 10647696 | Nonsense_Mutation | C | T | p.W304* |
| UCEC | TCGA-B5-A0JV-01 | exon_skip_69120 | 10653538 | 10653608 | 10653577 | 10653577 | Nonsense_Mutation | G | A | p.R121* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| CCK81_LARGE_INTESTINE | 10647513 | 10648130 | 10647615 | 10647615 | Frame_Shift_Del | A | - | p.F395fs |
| C33A_CERVIX | 10647513 | 10648130 | 10647668 | 10647668 | Frame_Shift_Del | G | - | p.R378fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10615693 | 10615742 | 10615719 | 10615719 | Missense_Mutation | G | A | p.R654W |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10647513 | 10648130 | 10647541 | 10647541 | Missense_Mutation | C | T | p.R420Q |
| MCC142_SKIN | 10647513 | 10648130 | 10647547 | 10647547 | Missense_Mutation | G | A | p.P418L |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10647513 | 10648130 | 10647682 | 10647682 | Missense_Mutation | T | C | p.E373G |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10647513 | 10648130 | 10647709 | 10647709 | Missense_Mutation | C | T | p.R364Q |
| SARC9371_BONE | 10647513 | 10648130 | 10647781 | 10647781 | Missense_Mutation | C | T | p.G340E |
| MCC13_SKIN | 10647513 | 10648130 | 10647811 | 10647811 | Missense_Mutation | G | A | p.P330L |
| MM386_SKIN | 10647513 | 10648130 | 10647907 | 10647907 | Missense_Mutation | G | A | p.P298L |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 10647513 | 10648130 | 10648010 | 10648010 | Missense_Mutation | C | T | p.E264K |
| U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10650298 | 10650375 | 10650307 | 10650307 | Missense_Mutation | T | G | p.T206P |
| SKMEL24_SKIN | 10653538 | 10653608 | 10653576 | 10653576 | Missense_Mutation | C | T | p.R112Q |
| NCIH2073_LUNG | 10655515 | 10655618 | 10655602 | 10655602 | Missense_Mutation | C | A | p.G72V |
| NCIH2073_LUNG | 10655515 | 10655621 | 10655602 | 10655602 | Missense_Mutation | C | A | p.G72V |
| NCIH1993_LUNG | 10655515 | 10655618 | 10655602 | 10655602 | Missense_Mutation | C | A | p.G72V |
| NCIH1993_LUNG | 10655515 | 10655621 | 10655602 | 10655602 | Missense_Mutation | C | A | p.G72V |
| LB2518MEL_SKIN | 10673572 | 10673729 | 10673601 | 10673601 | Missense_Mutation | G | A | p.P57S |
| BT16_SOFT_TISSUE | 10673572 | 10673729 | 10673612 | 10673612 | Missense_Mutation | G | A | p.P53L |
| KMRC3_KIDNEY | 10673572 | 10673729 | 10673614 | 10673614 | Missense_Mutation | C | G | p.E52D |
| RKO_LARGE_INTESTINE | 10673572 | 10673729 | 10673638 | 10673638 | Missense_Mutation | C | T | p.M44I |
| 8305C_THYROID | 10673572 | 10673729 | 10673676 | 10673676 | Missense_Mutation | G | C | p.P32A |
| UPCISCC152_UPPER_AERODIGESTIVE_TRACT | 10673572 | 10673729 | 10673682 | 10673682 | Missense_Mutation | C | T | p.E30K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MRVI1 |
| 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 MRVI1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MRVI1 |
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RelatedDrugs for MRVI1 |
| 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 MRVI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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