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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 MTCH2 |
 Gene summary |
| Gene information | Gene symbol | MTCH2 | Gene ID | 23788 |
| Gene name | mitochondrial carrier 2 | |
| Synonyms | HSPC032|MIMP|SLC25A50 | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | mitochondrial carrier homolog 22310034D24Rikmet-induced mitochondrial proteinsolute carrier family 25, member 50 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y6C9 | |
| Context | PubMed: MTCH2 [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 MTCH2 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 MTCH2 |
| 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 MTCH2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70967 | 11 | 47640390:47640471:47644252:47644328:47647225:47647292 | 47644252:47644328 | ENSG00000109919.5 | ENST00000534074.1,ENST00000542981.1,ENST00000302503.3,ENST00000525649.1 |
| exon_skip_70981 | 11 | 47644262:47644328:47647225:47647293:47648631:47648679 | 47647225:47647293 | ENSG00000109919.5 | ENST00000530428.1,ENST00000534074.1,ENST00000542981.1,ENST00000302503.3,ENST00000525649.1 |
| exon_skip_70999 | 11 | 47648631:47648679:47650504:47650598:47652106:47652166 | 47650504:47650598 | ENSG00000109919.5 | ENST00000530428.1,ENST00000542981.1,ENST00000302503.3,ENST00000525649.1 |
| exon_skip_71008 | 11 | 47650504:47650598:47652106:47652166:47652587:47652639 | 47652106:47652166 | ENSG00000109919.5 | ENST00000530428.1,ENST00000542981.1,ENST00000302503.3,ENST00000525649.1 |
| exon_skip_71010 | 11 | 47652587:47652639:47653205:47653263:47656223:47656283 | 47653205:47653263 | ENSG00000109919.5 | ENST00000530428.1,ENST00000302503.3 |
| exon_skip_71014 | 11 | 47652587:47652639:47656223:47656286:47657096:47657123 | 47656223:47656286 | ENSG00000109919.5 | ENST00000542981.1 |
| exon_skip_71017 | 11 | 47653205:47653263:47656223:47656286:47660250:47660343 | 47656223:47656286 | ENSG00000109919.5 | ENST00000530428.1 |
| exon_skip_71021 | 11 | 47656223:47656286:47657096:47657123:47660250:47660343 | 47657096:47657123 | ENSG00000109919.5 | ENST00000539759.1,ENST00000533571.1,ENST00000542981.1,ENST00000302503.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MTCH2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70967 | 11 | 47640390:47640471:47644252:47644328:47647225:47647292 | 47644252:47644328 | ENSG00000109919.5 | ENST00000302503.3,ENST00000542981.1,ENST00000534074.1,ENST00000525649.1 |
| exon_skip_70981 | 11 | 47644262:47644328:47647225:47647293:47648631:47648679 | 47647225:47647293 | ENSG00000109919.5 | ENST00000302503.3,ENST00000542981.1,ENST00000534074.1,ENST00000525649.1,ENST00000530428.1 |
| exon_skip_70999 | 11 | 47648631:47648679:47650504:47650598:47652106:47652166 | 47650504:47650598 | ENSG00000109919.5 | ENST00000302503.3,ENST00000542981.1,ENST00000525649.1,ENST00000530428.1 |
| exon_skip_71008 | 11 | 47650504:47650598:47652106:47652166:47652587:47652639 | 47652106:47652166 | ENSG00000109919.5 | ENST00000302503.3,ENST00000542981.1,ENST00000525649.1,ENST00000530428.1 |
| exon_skip_71010 | 11 | 47652587:47652639:47653205:47653263:47656223:47656283 | 47653205:47653263 | ENSG00000109919.5 | ENST00000302503.3,ENST00000530428.1 |
| exon_skip_71014 | 11 | 47652587:47652639:47656223:47656286:47657096:47657123 | 47656223:47656286 | ENSG00000109919.5 | ENST00000542981.1 |
| exon_skip_71017 | 11 | 47653205:47653263:47656223:47656286:47660250:47660343 | 47656223:47656286 | ENSG00000109919.5 | ENST00000530428.1 |
| exon_skip_71021 | 11 | 47656223:47656286:47657096:47657123:47660250:47660343 | 47657096:47657123 | ENSG00000109919.5 | ENST00000539759.1,ENST00000302503.3,ENST00000542981.1,ENST00000533571.1 |
| 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 MTCH2 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for MTCH2 |
| 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 |
| 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 |
| 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 MTCH2 |
| - 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-A39Y-01 | exon_skip_71008 | 47652107 | 47652166 | 47652110 | 47652110 | Frame_Shift_Del | A | - | p.F179fs |
| KIRP | TCGA-BQ-5892-01 | exon_skip_71010 | 47653206 | 47653263 | 47653227 | 47653227 | Frame_Shift_Del | G | - | p.L136fs |
| BLCA | TCGA-FD-A3B6-01 | exon_skip_70967 | 47644253 | 47644328 | 47644272 | 47644272 | Nonsense_Mutation | C | T | p.W269* |
| PAAD | TCGA-IB-7651-01 | exon_skip_70967 | 47644253 | 47644328 | 47644304 | 47644304 | Nonsense_Mutation | G | T | p.Y258* |
| PAAD | TCGA-IB-7651-01 | exon_skip_70967 | 47644253 | 47644328 | 47644304 | 47644304 | Nonsense_Mutation | G | T | p.Y258X |
| KICH | TCGA-KL-8345-01 | exon_skip_71010 | 47653206 | 47653263 | 47653265 | 47653265 | Splice_Site | T | C | . |
| KICH | TCGA-KL-8345-01 | exon_skip_71010 | 47653206 | 47653263 | 47653265 | 47653265 | Splice_Site | T | C | p.T124_splice |
| UCEC | TCGA-AP-A059-01 | exon_skip_71021 | 47657097 | 47657123 | 47657124 | 47657124 | Splice_Site | C | T | e4-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AP-A059-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_71021 | |
| Skipped exon start: 47657097 | |
| Skipped exon end: 47657123 | |
| Mutation start: 47657124 | |
| Mutation end: 47657124 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: e4-1 | |
exon_skip_109805_UCEC_TCGA-AP-A059-01.png | |
exon_skip_115311_UCEC_TCGA-AP-A059-01.png | |
exon_skip_24581_UCEC_TCGA-AP-A059-01.png | |
exon_skip_24582_UCEC_TCGA-AP-A059-01.png | |
exon_skip_24584_UCEC_TCGA-AP-A059-01.png | |
exon_skip_288059_UCEC_TCGA-AP-A059-01.png | |
exon_skip_304943_UCEC_TCGA-AP-A059-01.png | |
exon_skip_390430_UCEC_TCGA-AP-A059-01.png | |
exon_skip_477308_UCEC_TCGA-AP-A059-01.png | |
exon_skip_479028_UCEC_TCGA-AP-A059-01.png | |
exon_skip_484819_UCEC_TCGA-AP-A059-01.png | |
exon_skip_497317_UCEC_TCGA-AP-A059-01.png | |
exon_skip_499703_UCEC_TCGA-AP-A059-01.png | |
exon_skip_512666_UCEC_TCGA-AP-A059-01.png | |
exon_skip_5195_UCEC_TCGA-AP-A059-01.png | |
exon_skip_57355_UCEC_TCGA-AP-A059-01.png | |
exon_skip_5754_UCEC_TCGA-AP-A059-01.png | |
exon_skip_71021_UCEC_TCGA-AP-A059-01.png | |
exon_skip_89692_UCEC_TCGA-AP-A059-01.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 |
| MHHNB11_AUTONOMIC_GANGLIA | 47644253 | 47644328 | 47644290 | 47644290 | Missense_Mutation | G | C | p.T263R |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47647226 | 47647293 | 47647286 | 47647286 | Missense_Mutation | G | A | p.A230V |
| SW684_SOFT_TISSUE | 47650505 | 47650598 | 47650523 | 47650524 | Missense_Mutation | GG | AA | p.T205I |
| SNU1040_LARGE_INTESTINE | 47650505 | 47650598 | 47650530 | 47650530 | Missense_Mutation | A | G | p.V203A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 47650505 | 47650598 | 47650531 | 47650531 | Missense_Mutation | C | T | p.V203I |
| LB831BLC_URINARY_TRACT | 47650505 | 47650598 | 47650570 | 47650570 | Missense_Mutation | T | A | p.I190F |
| MM127_SKIN | 47652107 | 47652166 | 47652152 | 47652152 | Missense_Mutation | G | A | p.S165F |
| D542MG_CENTRAL_NERVOUS_SYSTEM | 47653206 | 47653263 | 47653216 | 47653216 | Missense_Mutation | A | T | p.H139Q |
| NMCG1_CENTRAL_NERVOUS_SYSTEM | 47656224 | 47656286 | 47656229 | 47656229 | Missense_Mutation | T | C | p.K122E |
| PC9_LUNG | 47656224 | 47656286 | 47656238 | 47656238 | Missense_Mutation | G | A | p.H119Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MTCH2 |
| 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 MTCH2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTCH2 |
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RelatedDrugs for MTCH2 |
| 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 MTCH2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MTCH2 | C0028754 | Obesity | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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