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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 MTR |
 Gene summary |
| Gene information | Gene symbol | MTR | Gene ID | 4548 |
| Gene name | 5-methyltetrahydrofolate-homocysteine methyltransferase | |
| Synonyms | HMAG|MS|cblG | |
| Cytomap | 1q43 | |
| Type of gene | protein-coding | |
| Description | methionine synthase5-methyltetrahydrofolate-homocysteine methyltransferase 1cobalamin-dependent methionine synthasevitamin-B12 dependent methionine synthase | |
| Modification date | 20180523 | |
| UniProtAcc | Q99707 | |
| Context | PubMed: MTR [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 MTR 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 MTR |
| 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 MTR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_19610 | 1 | 236958981:236959037:236966727:236966942:236969443:236969533 | 236966727:236966942 | ENSG00000116984.8 | ENST00000535889.1,ENST00000463959.1 |
| exon_skip_19612 | 1 | 236966730:236966942:236969443:236969533:236972003:236972073 | 236969443:236969533 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1 |
| exon_skip_19615 | 1 | 236969443:236969533:236972003:236972073:236973802:236973895 | 236972003:236972073 | ENSG00000116984.8 | ENST00000366577.5,ENST00000418145.2,ENST00000535889.1 |
| exon_skip_19616 | 1 | 236973802:236973895:236974944:236975001:236976037:236976144 | 236974944:236975001 | ENSG00000116984.8 | ENST00000418145.2 |
| exon_skip_19617 | 1 | 236976037:236976144:236978903:236978963:236979748:236979843 | 236978903:236978963 | ENSG00000116984.8 | ENST00000366577.5,ENST00000418145.2,ENST00000535889.1,ENST00000463959.1 |
| exon_skip_19618 | 1 | 236979748:236979843:236987418:236987519:236988637:236988699 | 236987418:236987519 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1,ENST00000463959.1 |
| exon_skip_19620 | 1 | 236992488:236992568:236995265:236995378:236998846:236998987 | 236995265:236995378 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1,ENST00000463959.1 |
| exon_skip_19624 | 1 | 236995265:236995378:236998846:236998987:237001713:237001818 | 236998846:236998987 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1,ENST00000463959.1 |
| exon_skip_19625 | 1 | 237001713:237001899:237013643:237013823:237015820:237015937 | 237013643:237013823 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1,ENST00000463959.1 |
| exon_skip_19626 | 1 | 237023132:237023222:237024424:237024577:237025535:237025643 | 237024424:237024577 | ENSG00000116984.8 | ENST00000366577.5,ENST00000366576.3 |
| exon_skip_19627 | 1 | 237054432:237054629:237057656:237057857:237058657:237058850 | 237057656:237057857 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1,ENST00000366576.3 |
| exon_skip_19629 | 1 | 237058657:237058850:237060305:237060418:237060857:237061434 | 237060305:237060418 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1,ENST00000470570.1,ENST00000366576.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MTR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_19610 | 1 | 236958981:236959037:236966727:236966942:236969443:236969533 | 236966727:236966942 | ENSG00000116984.8 | ENST00000463959.1,ENST00000535889.1 |
| exon_skip_19612 | 1 | 236966730:236966942:236969443:236969533:236972003:236972073 | 236969443:236969533 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1 |
| exon_skip_19613 | 1 | 236966727:236966942:236969443:236969533:236973802:236973895 | 236969443:236969533 | ENSG00000116984.8 | ENST00000463959.1 |
| exon_skip_19615 | 1 | 236969443:236969533:236972003:236972073:236973802:236973895 | 236972003:236972073 | ENSG00000116984.8 | ENST00000366577.5,ENST00000418145.2,ENST00000535889.1 |
| exon_skip_19616 | 1 | 236973802:236973895:236974944:236975001:236976037:236976144 | 236974944:236975001 | ENSG00000116984.8 | ENST00000418145.2 |
| exon_skip_19617 | 1 | 236976037:236976144:236978903:236978963:236979748:236979843 | 236978903:236978963 | ENSG00000116984.8 | ENST00000366577.5,ENST00000418145.2,ENST00000463959.1,ENST00000535889.1 |
| exon_skip_19618 | 1 | 236979748:236979843:236987418:236987519:236988637:236988699 | 236987418:236987519 | ENSG00000116984.8 | ENST00000366577.5,ENST00000463959.1,ENST00000535889.1 |
| exon_skip_19620 | 1 | 236992488:236992568:236995265:236995378:236998846:236998987 | 236995265:236995378 | ENSG00000116984.8 | ENST00000366577.5,ENST00000463959.1,ENST00000535889.1 |
| exon_skip_19624 | 1 | 236995265:236995378:236998846:236998987:237001713:237001818 | 236998846:236998987 | ENSG00000116984.8 | ENST00000366577.5,ENST00000463959.1,ENST00000535889.1 |
| exon_skip_19625 | 1 | 237001713:237001899:237013643:237013823:237015820:237015937 | 237013643:237013823 | ENSG00000116984.8 | ENST00000366577.5,ENST00000463959.1,ENST00000535889.1 |
| exon_skip_19626 | 1 | 237023132:237023222:237024424:237024577:237025535:237025643 | 237024424:237024577 | ENSG00000116984.8 | ENST00000366577.5,ENST00000366576.3 |
| exon_skip_19627 | 1 | 237054432:237054629:237057656:237057857:237058657:237058850 | 237057656:237057857 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1,ENST00000366576.3 |
| exon_skip_19629 | 1 | 237058657:237058850:237060305:237060418:237060857:237061434 | 237060305:237060418 | ENSG00000116984.8 | ENST00000366577.5,ENST00000535889.1,ENST00000366576.3,ENST00000470570.1 |
| 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 MTR |
| 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 |
| ENST00000366577 | 236972003 | 236972073 | Frame-shift |
| ENST00000366577 | 236987418 | 236987519 | Frame-shift |
| ENST00000366577 | 236995265 | 236995378 | Frame-shift |
| ENST00000366577 | 237060305 | 237060418 | Frame-shift |
| ENST00000366577 | 236969443 | 236969533 | In-frame |
| ENST00000366577 | 236978903 | 236978963 | In-frame |
| ENST00000366577 | 236998846 | 236998987 | In-frame |
| ENST00000366577 | 237013643 | 237013823 | In-frame |
| ENST00000366577 | 237024424 | 237024577 | In-frame |
| ENST00000366577 | 237057656 | 237057857 | 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 |
| ENST00000366577 | 236972003 | 236972073 | Frame-shift |
| ENST00000366577 | 236987418 | 236987519 | Frame-shift |
| ENST00000366577 | 236995265 | 236995378 | Frame-shift |
| ENST00000366577 | 237060305 | 237060418 | Frame-shift |
| ENST00000366577 | 236969443 | 236969533 | In-frame |
| ENST00000366577 | 236978903 | 236978963 | In-frame |
| ENST00000366577 | 236998846 | 236998987 | In-frame |
| ENST00000366577 | 237013643 | 237013823 | In-frame |
| ENST00000366577 | 237024424 | 237024577 | In-frame |
| ENST00000366577 | 237057656 | 237057857 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MTR |
| 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 |
| ENST00000366577 | 10546 | 1265 | 236969443 | 236969533 | 644 | 733 | 83 | 113 |
| ENST00000366577 | 10546 | 1265 | 236978903 | 236978963 | 1004 | 1063 | 203 | 223 |
| ENST00000366577 | 10546 | 1265 | 236998846 | 236998987 | 1583 | 1723 | 396 | 443 |
| ENST00000366577 | 10546 | 1265 | 237013643 | 237013823 | 1910 | 2089 | 505 | 565 |
| ENST00000366577 | 10546 | 1265 | 237024424 | 237024577 | 2438 | 2590 | 681 | 732 |
| ENST00000366577 | 10546 | 1265 | 237057656 | 237057857 | 3599 | 3799 | 1068 | 1135 |
| 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 |
| ENST00000366577 | 10546 | 1265 | 236969443 | 236969533 | 644 | 733 | 83 | 113 |
| ENST00000366577 | 10546 | 1265 | 236978903 | 236978963 | 1004 | 1063 | 203 | 223 |
| ENST00000366577 | 10546 | 1265 | 236998846 | 236998987 | 1583 | 1723 | 396 | 443 |
| ENST00000366577 | 10546 | 1265 | 237013643 | 237013823 | 1910 | 2089 | 505 | 565 |
| ENST00000366577 | 10546 | 1265 | 237024424 | 237024577 | 2438 | 2590 | 681 | 732 |
| ENST00000366577 | 10546 | 1265 | 237057656 | 237057857 | 3599 | 3799 | 1068 | 1135 |
| 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 |
| Q99707 | 83 | 113 | 92 | 94 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 83 | 113 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 83 | 113 | 19 | 338 | Domain | Note=Hcy-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00333 |
| Q99707 | 83 | 113 | 75 | 87 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 83 | 113 | 102 | 105 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 83 | 113 | 106 | 108 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 83 | 113 | 111 | 113 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 203 | 223 | 222 | 226 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 203 | 223 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 203 | 223 | 19 | 338 | Domain | Note=Hcy-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00333 |
| Q99707 | 203 | 223 | 199 | 213 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 203 | 223 | 214 | 216 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 396 | 443 | 411 | 416 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 396 | 443 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 396 | 443 | 371 | 632 | Domain | Note=Pterin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00334 |
| Q99707 | 396 | 443 | 395 | 407 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 396 | 443 | 424 | 437 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 396 | 443 | 439 | 442 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 534 | 537 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 537 | 537 | Binding site | Note=Substrate;Ontology_term=ECO:0000244,ECO:0000305;evidence=ECO:0000244|PDB:4CCZ,ECO:0000305|Ref.11 |
| Q99707 | 505 | 565 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 505 | 565 | 371 | 632 | Domain | Note=Pterin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00334 |
| Q99707 | 505 | 565 | 509 | 527 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 531 | 533 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 548 | 552 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 553 | 567 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 681 | 732 | 682 | 732 | Alternative sequence | ID=VSP_057283;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99707 | 681 | 732 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 681 | 732 | 662 | 759 | Domain | Note=B12-binding N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00667 |
| Q99707 | 1068 | 1135 | 1095 | 1106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 1068 | 1135 | 923 | 1265 | Domain | Note=AdoMet activation;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00346 |
| Q99707 | 1068 | 1135 | 1082 | 1085 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1089 | 1091 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1107 | 1116 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1120 | 1147 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1071 | 1071 | Mutagenesis | Note=Decreases binding to MTRR%3B when associated with E-963. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17288554;Dbxref=PMID:17288554 |
| 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 |
| Q99707 | 83 | 113 | 92 | 94 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 83 | 113 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 83 | 113 | 19 | 338 | Domain | Note=Hcy-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00333 |
| Q99707 | 83 | 113 | 75 | 87 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 83 | 113 | 102 | 105 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 83 | 113 | 106 | 108 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 83 | 113 | 111 | 113 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 203 | 223 | 222 | 226 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 203 | 223 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 203 | 223 | 19 | 338 | Domain | Note=Hcy-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00333 |
| Q99707 | 203 | 223 | 199 | 213 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 203 | 223 | 214 | 216 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 396 | 443 | 411 | 416 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 396 | 443 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 396 | 443 | 371 | 632 | Domain | Note=Pterin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00334 |
| Q99707 | 396 | 443 | 395 | 407 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 396 | 443 | 424 | 437 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 396 | 443 | 439 | 442 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 534 | 537 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 537 | 537 | Binding site | Note=Substrate;Ontology_term=ECO:0000244,ECO:0000305;evidence=ECO:0000244|PDB:4CCZ,ECO:0000305|Ref.11 |
| Q99707 | 505 | 565 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 505 | 565 | 371 | 632 | Domain | Note=Pterin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00334 |
| Q99707 | 505 | 565 | 509 | 527 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 531 | 533 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 548 | 552 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 505 | 565 | 553 | 567 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CCZ |
| Q99707 | 681 | 732 | 682 | 732 | Alternative sequence | ID=VSP_057283;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99707 | 681 | 732 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 681 | 732 | 662 | 759 | Domain | Note=B12-binding N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00667 |
| Q99707 | 1068 | 1135 | 1095 | 1106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1 | 1265 | Chain | ID=PRO_0000204530;Note=Methionine synthase |
| Q99707 | 1068 | 1135 | 923 | 1265 | Domain | Note=AdoMet activation;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00346 |
| Q99707 | 1068 | 1135 | 1082 | 1085 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1089 | 1091 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1107 | 1116 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1120 | 1147 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2O2K |
| Q99707 | 1068 | 1135 | 1071 | 1071 | Mutagenesis | Note=Decreases binding to MTRR%3B when associated with E-963. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17288554;Dbxref=PMID:17288554 |
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SNVs in the skipped exons for MTR |
| - 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-DD-A3A0-01 | exon_skip_19617 | 236978904 | 236978963 | 236978923 | 236978923 | Frame_Shift_Del | A | - | p.Q210fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_19617 | 236978904 | 236978963 | 236978929 | 236978929 | Frame_Shift_Del | T | - | p.L212fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_19620 | 236995266 | 236995378 | 236995339 | 236995339 | Frame_Shift_Del | A | - | p.S383fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_19625 | 237013644 | 237013823 | 237013661 | 237013661 | Frame_Shift_Del | A | - | p.T511fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_19625 | 237013644 | 237013823 | 237013661 | 237013661 | Frame_Shift_Del | A | - | p.T511fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_19625 | 237013644 | 237013823 | 237013661 | 237013661 | Frame_Shift_Del | A | - | p.T511fs |
| COAD | TCGA-D5-6928-01 | exon_skip_19625 | 237013644 | 237013823 | 237013678 | 237013678 | Frame_Shift_Del | C | - | p.T517fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_19625 | 237013644 | 237013823 | 237013701 | 237013701 | Frame_Shift_Del | A | - | p.K526fs |
| BLCA | TCGA-FD-A3SQ-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.Q698fs |
| BLCA | TCGA-ZF-AA52-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.Q698fs |
| ESCA | TCGA-2H-A9GL-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.K700fs |
| HNSC | TCGA-CV-A6K1-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.Q698fs |
| LGG | TCGA-DB-A64O-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.Q698fs |
| LUAD | TCGA-62-A46V-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.Q698fs |
| LUAD | TCGA-99-8032-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.Q698fs |
| SKCM | TCGA-D9-A3Z3-06 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.Q698fs |
| STAD | TCGA-BR-8078-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024475 | Frame_Shift_Del | AA | - | p.698_698del |
| THCA | TCGA-FY-A3ON-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.Q698fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_19626 | 237024425 | 237024577 | 237024474 | 237024474 | Frame_Shift_Del | A | - | p.Q698fs |
| CESC | TCGA-EK-A2H0-01 | exon_skip_19620 | 236995266 | 236995378 | 236995308 | 236995309 | Frame_Shift_Ins | - | CATTT | p.G375fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_19627 | 237057657 | 237057857 | 237057764 | 237057765 | Frame_Shift_Ins | - | T | p.C1104fs |
| LUAD | TCGA-99-8032-01 | exon_skip_19610 | 236966728 | 236966942 | 236966853 | 236966853 | Nonsense_Mutation | C | T | p.Q54* |
| PAAD | TCGA-YB-A89D-01 | exon_skip_19626 | 237024425 | 237024577 | 237024431 | 237024431 | Nonsense_Mutation | G | T | p.E684* |
| LUAD | TCGA-78-7539-01 | exon_skip_19627 | 237057657 | 237057857 | 237057700 | 237057700 | Nonsense_Mutation | C | G | p.S1083* |
| PAAD | TCGA-IB-A6UF-01 | exon_skip_19627 | 237057657 | 237057857 | 237057764 | 237057764 | Nonsense_Mutation | C | A | p.C1104* |
| BLCA | TCGA-CF-A27C-01 | exon_skip_19629 | 237060306 | 237060418 | 237060354 | 237060354 | Nonsense_Mutation | C | G | p.S1216* |
| LUAD | TCGA-05-4396-01 | exon_skip_19626 | 237024425 | 237024577 | 237024423 | 237024423 | Splice_Site | A | T | p.G682_splice |
| HNSC | TCGA-CV-7091-01 | exon_skip_19629 | 237060306 | 237060418 | 237060420 | 237060420 | Splice_Site | T | C | p.Q1237_splice |
| - 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 |
| AN3CA_ENDOMETRIUM | 237013644 | 237013823 | 237013732 | 237013732 | Frame_Shift_Del | T | - | p.I535fs |
| HEC251_ENDOMETRIUM | 236966728 | 236966942 | 236966749 | 236966749 | Missense_Mutation | G | A | p.R19Q |
| HMVII_SKIN | 236966728 | 236966942 | 236966752 | 236966752 | Missense_Mutation | A | C | p.D20A |
| ML1_THYROID | 236966728 | 236966942 | 236966778 | 236966778 | Missense_Mutation | A | G | p.R29G |
| CL34_LARGE_INTESTINE | 236966728 | 236966942 | 236966781 | 236966781 | Missense_Mutation | A | G | p.I30V |
| SNU407_LARGE_INTESTINE | 236966728 | 236966942 | 236966871 | 236966871 | Missense_Mutation | G | A | p.A60T |
| SNU1040_LARGE_INTESTINE | 236966728 | 236966942 | 236966872 | 236966872 | Missense_Mutation | C | T | p.A60V |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 236972004 | 236972073 | 236972059 | 236972059 | Missense_Mutation | T | C | p.V132A |
| CHAGOK1_LUNG | 236987419 | 236987519 | 236987442 | 236987442 | Missense_Mutation | G | T | p.G263V |
| HT115_LARGE_INTESTINE | 236995266 | 236995378 | 236995299 | 236995299 | Missense_Mutation | A | C | p.N370T |
| HEC151_ENDOMETRIUM | 236995266 | 236995378 | 236995319 | 236995319 | Missense_Mutation | C | T | p.R377C |
| LS411N_LARGE_INTESTINE | 236998847 | 236998987 | 236998892 | 236998892 | Missense_Mutation | G | A | p.V412M |
| LXF289_LUNG | 236998847 | 236998987 | 236998914 | 236998914 | Missense_Mutation | A | G | p.D419G |
| NCIH2135_LUNG | 236998847 | 236998987 | 236998923 | 236998923 | Missense_Mutation | T | C | p.L422P |
| CP66MEL_SKIN | 236998847 | 236998987 | 236998935 | 236998935 | Missense_Mutation | G | A | p.S426N |
| GP5D_LARGE_INTESTINE | 236998847 | 236998987 | 236998952 | 236998952 | Missense_Mutation | T | C | p.C432R |
| SNU1040_LARGE_INTESTINE | 236998847 | 236998987 | 236998982 | 236998982 | Missense_Mutation | G | A | p.A442T |
| KYSE450_OESOPHAGUS | 237024425 | 237024577 | 237024429 | 237024429 | Missense_Mutation | T | C | p.I683T |
| FUOV1_OVARY | 237057657 | 237057857 | 237057733 | 237057733 | Missense_Mutation | G | A | p.R1094H |
| 8305C_THYROID | 237057657 | 237057857 | 237057753 | 237057753 | Missense_Mutation | G | A | p.A1101T |
| CW2_LARGE_INTESTINE | 237057657 | 237057857 | 237057784 | 237057784 | Missense_Mutation | G | A | p.S1111N |
| HSC1_SKIN | 237057657 | 237057857 | 237057790 | 237057790 | Missense_Mutation | C | T | p.A1113V |
| NCIH2009_LUNG | 237057657 | 237057857 | 237057795 | 237057795 | Missense_Mutation | G | A | p.E1115K |
| NCIH630_LARGE_INTESTINE | 237060306 | 237060418 | 237060335 | 237060335 | Missense_Mutation | G | A | p.A1210T |
| 786O_KIDNEY | 236966728 | 236966942 | 236966729 | 236966729 | Splice_Site | A | C | p.E12D |
| SKOV3_OVARY | 236998847 | 236998987 | 236998848 | 236998848 | Splice_Site | A | G | p.E397G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MTR |
| 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 MTR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTR |
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RelatedDrugs for MTR |
| 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 |
| Q99707 | DB00200 | Hydroxocobalamin | Methionine synthase | small molecule | approved | |
| Q99707 | DB11590 | Thimerosal | Methionine synthase | small molecule | approved | |
| Q99707 | DB00115 | Cyanocobalamin | Methionine synthase | small molecule | approved|nutraceutical | |
| Q99707 | DB00134 | Methionine | Methionine synthase | small molecule | approved|nutraceutical |
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RelatedDiseases for MTR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MTR | C0011570 | Mental Depression | 2 | PSYGENET |
| MTR | C0011581 | Depressive disorder | 2 | PSYGENET |
| MTR | C0041755 | Adverse reaction to drug | 2 | CTD_human |
| MTR | C1855128 | Methylcobalamin Deficiency, CblG Type | 2 | CTD_human;ORPHANET;UNIPROT |
| MTR | C0001969 | Alcoholic Intoxication | 1 | PSYGENET |
| MTR | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| MTR | C0008924 | Cleft Lip | 1 | CTD_human |
| MTR | C0008925 | Cleft Palate | 1 | CTD_human |
| MTR | C0017178 | Gastrointestinal Diseases | 1 | CTD_human |
| MTR | C0018939 | Hematological Disease | 1 | CTD_human |
| MTR | C0021364 | Male infertility | 1 | CTD_human |
| MTR | C0024299 | Lymphoma | 1 | CTD_human |
| MTR | C0024301 | Lymphoma, Follicular | 1 | CTD_human |
| MTR | C0036341 | Schizophrenia | 1 | PSYGENET |
| MTR | C0162429 | Malnutrition | 1 | CTD_human |
| MTR | C0270612 | Leukoencephalopathies | 1 | CTD_human |
| MTR | C0588008 | Severe depression | 1 | PSYGENET |
| MTR | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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