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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 MATN2 |
 Gene summary |
| Gene information | Gene symbol | MATN2 | Gene ID | 4147 |
| Gene name | matrilin 2 | |
| Synonyms | - | |
| Cytomap | 8q22.1-q22.2 | |
| Type of gene | protein-coding | |
| Description | matrilin-2testis tissue sperm-binding protein Li 94mP | |
| Modification date | 20180523 | |
| UniProtAcc | O00339 | |
| Context | PubMed: MATN2 [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 MATN2 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 MATN2 |
| 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 MATN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485120 | 8 | 98900302:98900470:98943180:98943750:98954004:98954127 | 98943180:98943750 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000520016.1,ENST00000523490.1,ENST00000524308.1 |
| exon_skip_485121 | 8 | 98943652:98943750:98954004:98954127:98973635:98973750 | 98954004:98954127 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000520016.1,ENST00000523490.1,ENST00000524308.1 |
| exon_skip_485124 | 8 | 98954030:98954127:98973635:98973758:98991113:98991236 | 98973635:98973758 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1,ENST00000524308.1 |
| exon_skip_485126 | 8 | 98973709:98973758:98991113:98991236:99006707:99006824 | 98991113:98991236 | ENSG00000132561.9 | ENST00000519585.1,ENST00000521041.1,ENST00000521689.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1,ENST00000522270.1 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENSG00000132561.9 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 |
| exon_skip_485128 | 8 | 99015888:99016011:99019332:99019455:99019706:99019730 | 99019332:99019455 | ENSG00000132561.9 | ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000524308.1,ENST00000522270.1 |
| exon_skip_485130 | 8 | 99030221:99030344:99033432:99033555:99039643:99039906 | 99033432:99033555 | ENSG00000132561.9 | ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000524308.1 |
| exon_skip_485131 | 8 | 99033437:99033555:99039643:99040057:99042689:99042842 | 99039643:99040057 | ENSG00000132561.9 | ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000524308.1 |
| exon_skip_485135 | 8 | 99042689:99042842:99044473:99044545:99045269:99045404 | 99044473:99044545 | ENSG00000132561.9 | ENST00000521952.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000524308.1 |
| exon_skip_485136 | 8 | 99042689:99042842:99044473:99044545:99045326:99045404 | 99044473:99044545 | ENSG00000132561.9 | ENST00000521689.1,ENST00000518154.1,ENST00000519582.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MATN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485120 | 8 | 98900302:98900470:98943180:98943750:98954004:98954127 | 98943180:98943750 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000524308.1,ENST00000523490.1,ENST00000520016.1 |
| exon_skip_485121 | 8 | 98943652:98943750:98954004:98954127:98973635:98973750 | 98954004:98954127 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000524308.1,ENST00000523490.1,ENST00000520016.1 |
| exon_skip_485124 | 8 | 98954030:98954127:98973635:98973758:98991113:98991236 | 98973635:98973758 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000524308.1,ENST00000523490.1,ENST00000522025.2,ENST00000520016.1 |
| exon_skip_485126 | 8 | 98973709:98973758:98991113:98991236:99006707:99006824 | 98991113:98991236 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000523490.1,ENST00000522025.2,ENST00000520016.1,ENST00000521041.1,ENST00000519585.1,ENST00000522270.1 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000523490.1,ENST00000522025.2,ENST00000520016.1,ENST00000518154.1,ENST00000521041.1 |
| exon_skip_485128 | 8 | 99015888:99016011:99019332:99019455:99019706:99019730 | 99019332:99019455 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000524308.1,ENST00000522025.2,ENST00000520016.1,ENST00000518154.1,ENST00000522270.1 |
| exon_skip_485130 | 8 | 99030221:99030344:99033432:99033555:99039643:99039906 | 99033432:99033555 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000524308.1,ENST00000522025.2,ENST00000520016.1,ENST00000518154.1 |
| exon_skip_485131 | 8 | 99033437:99033555:99039643:99040057:99042689:99042842 | 99039643:99040057 | ENSG00000132561.9 | ENST00000521689.1,ENST00000254898.5,ENST00000524308.1,ENST00000522025.2,ENST00000520016.1,ENST00000518154.1 |
| exon_skip_485135 | 8 | 99042689:99042842:99044473:99044545:99045269:99045404 | 99044473:99044545 | ENSG00000132561.9 | ENST00000254898.5,ENST00000524308.1,ENST00000522025.2,ENST00000520016.1,ENST00000521952.1 |
| exon_skip_485136 | 8 | 99042689:99042842:99044473:99044545:99045326:99045404 | 99044473:99044545 | ENSG00000132561.9 | ENST00000521689.1,ENST00000518154.1,ENST00000519582.1 |
| 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 MATN2 |
| 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 |
| ENST00000254898 | 98943180 | 98943750 | In-frame |
| ENST00000520016 | 98943180 | 98943750 | In-frame |
| ENST00000254898 | 98954004 | 98954127 | In-frame |
| ENST00000520016 | 98954004 | 98954127 | In-frame |
| ENST00000254898 | 98973635 | 98973758 | In-frame |
| ENST00000520016 | 98973635 | 98973758 | In-frame |
| ENST00000254898 | 98991113 | 98991236 | In-frame |
| ENST00000520016 | 98991113 | 98991236 | In-frame |
| ENST00000254898 | 99006707 | 99006830 | In-frame |
| ENST00000520016 | 99006707 | 99006830 | In-frame |
| ENST00000254898 | 99019332 | 99019455 | In-frame |
| ENST00000520016 | 99019332 | 99019455 | In-frame |
| ENST00000254898 | 99033432 | 99033555 | In-frame |
| ENST00000520016 | 99033432 | 99033555 | In-frame |
| ENST00000254898 | 99039643 | 99040057 | In-frame |
| ENST00000520016 | 99039643 | 99040057 | In-frame |
| ENST00000254898 | 99044473 | 99044545 | In-frame |
| ENST00000520016 | 99044473 | 99044545 | 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 |
| ENST00000254898 | 98943180 | 98943750 | In-frame |
| ENST00000520016 | 98943180 | 98943750 | In-frame |
| ENST00000254898 | 98954004 | 98954127 | In-frame |
| ENST00000520016 | 98954004 | 98954127 | In-frame |
| ENST00000254898 | 98973635 | 98973758 | In-frame |
| ENST00000520016 | 98973635 | 98973758 | In-frame |
| ENST00000254898 | 98991113 | 98991236 | In-frame |
| ENST00000520016 | 98991113 | 98991236 | In-frame |
| ENST00000254898 | 99006707 | 99006830 | In-frame |
| ENST00000520016 | 99006707 | 99006830 | In-frame |
| ENST00000254898 | 99019332 | 99019455 | In-frame |
| ENST00000520016 | 99019332 | 99019455 | In-frame |
| ENST00000254898 | 99033432 | 99033555 | In-frame |
| ENST00000520016 | 99033432 | 99033555 | In-frame |
| ENST00000254898 | 99039643 | 99040057 | In-frame |
| ENST00000520016 | 99039643 | 99040057 | In-frame |
| ENST00000254898 | 99044473 | 99044545 | In-frame |
| ENST00000520016 | 99044473 | 99044545 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MATN2 |
| 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 |
| ENST00000254898 | 4126 | 956 | 98943180 | 98943750 | 374 | 943 | 47 | 237 |
| ENST00000520016 | 3512 | 956 | 98943180 | 98943750 | 267 | 836 | 47 | 237 |
| ENST00000254898 | 4126 | 956 | 98954004 | 98954127 | 944 | 1066 | 237 | 278 |
| ENST00000520016 | 3512 | 956 | 98954004 | 98954127 | 837 | 959 | 237 | 278 |
| ENST00000254898 | 4126 | 956 | 98973635 | 98973758 | 1067 | 1189 | 278 | 319 |
| ENST00000520016 | 3512 | 956 | 98973635 | 98973758 | 960 | 1082 | 278 | 319 |
| ENST00000254898 | 4126 | 956 | 98991113 | 98991236 | 1190 | 1312 | 319 | 360 |
| ENST00000520016 | 3512 | 956 | 98991113 | 98991236 | 1083 | 1205 | 319 | 360 |
| ENST00000254898 | 4126 | 956 | 99006707 | 99006830 | 1313 | 1435 | 360 | 401 |
| ENST00000520016 | 3512 | 956 | 99006707 | 99006830 | 1206 | 1328 | 360 | 401 |
| ENST00000254898 | 4126 | 956 | 99019332 | 99019455 | 1559 | 1681 | 442 | 483 |
| ENST00000520016 | 3512 | 956 | 99019332 | 99019455 | 1452 | 1574 | 442 | 483 |
| ENST00000254898 | 4126 | 956 | 99033432 | 99033555 | 2051 | 2173 | 606 | 647 |
| ENST00000520016 | 3512 | 956 | 99033432 | 99033555 | 1944 | 2066 | 606 | 647 |
| ENST00000254898 | 4126 | 956 | 99039643 | 99040057 | 2174 | 2587 | 647 | 785 |
| ENST00000520016 | 3512 | 956 | 99039643 | 99040057 | 2067 | 2480 | 647 | 785 |
| ENST00000254898 | 4126 | 956 | 99044473 | 99044545 | 2741 | 2812 | 836 | 860 |
| ENST00000520016 | 3512 | 956 | 99044473 | 99044545 | 2634 | 2705 | 836 | 860 |
| 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 |
| ENST00000254898 | 4126 | 956 | 98943180 | 98943750 | 374 | 943 | 47 | 237 |
| ENST00000520016 | 3512 | 956 | 98943180 | 98943750 | 267 | 836 | 47 | 237 |
| ENST00000254898 | 4126 | 956 | 98954004 | 98954127 | 944 | 1066 | 237 | 278 |
| ENST00000520016 | 3512 | 956 | 98954004 | 98954127 | 837 | 959 | 237 | 278 |
| ENST00000254898 | 4126 | 956 | 98973635 | 98973758 | 1067 | 1189 | 278 | 319 |
| ENST00000520016 | 3512 | 956 | 98973635 | 98973758 | 960 | 1082 | 278 | 319 |
| ENST00000254898 | 4126 | 956 | 98991113 | 98991236 | 1190 | 1312 | 319 | 360 |
| ENST00000520016 | 3512 | 956 | 98991113 | 98991236 | 1083 | 1205 | 319 | 360 |
| ENST00000254898 | 4126 | 956 | 99006707 | 99006830 | 1313 | 1435 | 360 | 401 |
| ENST00000520016 | 3512 | 956 | 99006707 | 99006830 | 1206 | 1328 | 360 | 401 |
| ENST00000254898 | 4126 | 956 | 99019332 | 99019455 | 1559 | 1681 | 442 | 483 |
| ENST00000520016 | 3512 | 956 | 99019332 | 99019455 | 1452 | 1574 | 442 | 483 |
| ENST00000254898 | 4126 | 956 | 99033432 | 99033555 | 2051 | 2173 | 606 | 647 |
| ENST00000520016 | 3512 | 956 | 99033432 | 99033555 | 1944 | 2066 | 606 | 647 |
| ENST00000254898 | 4126 | 956 | 99039643 | 99040057 | 2174 | 2587 | 647 | 785 |
| ENST00000520016 | 3512 | 956 | 99039643 | 99040057 | 2067 | 2480 | 647 | 785 |
| ENST00000254898 | 4126 | 956 | 99044473 | 99044545 | 2741 | 2812 | 836 | 860 |
| ENST00000520016 | 3512 | 956 | 99044473 | 99044545 | 2634 | 2705 | 836 | 860 |
| 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 MATN2 |
| - 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. |
MATN2_OV_exon_skip_485131_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 |
| KIRP | TCGA-BQ-7051-01 | exon_skip_485120 | 98943181 | 98943750 | 98943606 | 98943609 | Frame_Shift_Del | CTAA | - | p.189_190del |
| KIRP | TCGA-BQ-7051-01 | exon_skip_485120 | 98943181 | 98943750 | 98943606 | 98943609 | Frame_Shift_Del | CTAA | - | p.L190fs |
| KIRP | TCGA-BQ-7051-01 | exon_skip_485120 | 98943181 | 98943750 | 98943606 | 98943609 | Frame_Shift_Del | CTAA | - | p.LI190fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_485126 | 98991114 | 98991236 | 98991221 | 98991221 | Frame_Shift_Del | A | - | p.K357fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_485128 | 99019333 | 99019455 | 99019453 | 99019453 | Frame_Shift_Del | C | - | p.S483fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_485130 | 99033433 | 99033555 | 99033447 | 99033447 | Frame_Shift_Del | A | - | p.K612fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_485131 | 99039644 | 99040057 | 99039856 | 99039856 | Frame_Shift_Del | A | - | p.K720fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_485131 | 99039644 | 99040057 | 99039856 | 99039856 | Frame_Shift_Del | A | - | p.K720fs |
| LUAD | TCGA-17-Z049-01 | exon_skip_485120 | 98943181 | 98943750 | 98943445 | 98943446 | Frame_Shift_Ins | - | T | p.R136fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_485126 | 98991114 | 98991236 | 98991220 | 98991221 | Frame_Shift_Ins | - | G | p.EK355fs |
| LUAD | TCGA-86-6851-01 | exon_skip_485120 | 98943181 | 98943750 | 98943360 | 98943360 | Nonsense_Mutation | G | T | p.E108* |
| HNSC | TCGA-CV-7099-01 | exon_skip_485120 | 98943181 | 98943750 | 98943558 | 98943558 | Nonsense_Mutation | C | T | p.Q174* |
| SKCM | TCGA-WE-A8ZT-06 | exon_skip_485120 | 98943181 | 98943750 | 98943558 | 98943558 | Nonsense_Mutation | C | T | p.Q174* |
| OV | TCGA-13-1507-01 | exon_skip_485131 | 99039644 | 99040057 | 99039928 | 99039928 | Nonsense_Mutation | G | T | p.E743* |
| COAD | TCGA-CM-4746-01 | exon_skip_485128 | 99019333 | 99019455 | 99019456 | 99019456 | Splice_Site | G | A | . |
| COAD | TCGA-D5-6537-01 | exon_skip_485128 | 99019333 | 99019455 | 99019456 | 99019456 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-13-1507-01 |
| Cancer type: OV | |
| ESID: exon_skip_485131 | |
| Skipped exon start: 99039644 | |
| Skipped exon end: 99040057 | |
| Mutation start: 99039928 | |
| Mutation end: 99039928 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E743* | |
exon_skip_485131_OV_TCGA-13-1507-01.png | |
 | Sample: TCGA-CM-4746-01 |
| Cancer type: COAD | |
| ESID: exon_skip_485128 | |
| Skipped exon start: 99019333 | |
| Skipped exon end: 99019455 | |
| Mutation start: 99019456 | |
| Mutation end: 99019456 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_125387_COAD_TCGA-CM-4746-01.png | |
exon_skip_485128_COAD_TCGA-CM-4746-01.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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 99039644 | 99040057 | 99039972 | 99039973 | Frame_Shift_Del | AA | - | p.R758fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 99039644 | 99040057 | 99039974 | 99039975 | Frame_Shift_Ins | - | CA | p.RV758fs |
| CW2_LARGE_INTESTINE | 98943181 | 98943750 | 98943190 | 98943190 | Missense_Mutation | G | A | p.C51Y |
| HUTU80_SMALL_INTESTINE | 98943181 | 98943750 | 98943223 | 98943223 | Missense_Mutation | T | C | p.I62T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98943181 | 98943750 | 98943235 | 98943235 | Missense_Mutation | G | A | p.R66H |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98943181 | 98943750 | 98943235 | 98943235 | Missense_Mutation | G | A | p.R66H |
| GOTO_AUTONOMIC_GANGLIA | 98943181 | 98943750 | 98943322 | 98943322 | Missense_Mutation | G | T | p.R95L |
| HEC1A_ENDOMETRIUM | 98943181 | 98943750 | 98943402 | 98943402 | Missense_Mutation | C | T | p.R122C |
| HEC1_ENDOMETRIUM | 98943181 | 98943750 | 98943402 | 98943402 | Missense_Mutation | C | T | p.R122C |
| HEC1_ENDOMETRIUM | 98943181 | 98943750 | 98943413 | 98943413 | Missense_Mutation | G | T | p.K125N |
| AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98943181 | 98943750 | 98943502 | 98943502 | Missense_Mutation | G | A | p.R155Q |
| RCM1_LARGE_INTESTINE | 98943181 | 98943750 | 98943526 | 98943526 | Missense_Mutation | G | A | p.R163Q |
| KNS62_LUNG | 98943181 | 98943750 | 98943588 | 98943588 | Missense_Mutation | G | T | p.A184S |
| KP4_PANCREAS | 98943181 | 98943750 | 98943591 | 98943591 | Missense_Mutation | C | T | p.R185W |
| SW1271_LUNG | 98943181 | 98943750 | 98943669 | 98943669 | Missense_Mutation | C | G | p.P211A |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98943181 | 98943750 | 98943718 | 98943718 | Missense_Mutation | C | T | p.T227M |
| IGR39_SKIN | 98943181 | 98943750 | 98943729 | 98943729 | Missense_Mutation | G | A | p.V231M |
| IGR37_SKIN | 98943181 | 98943750 | 98943729 | 98943729 | Missense_Mutation | G | A | p.V231M |
| SW780_URINARY_TRACT | 98954005 | 98954127 | 98954007 | 98954007 | Missense_Mutation | G | A | p.A239T |
| CADOES1_BONE | 98954005 | 98954127 | 98954015 | 98954015 | Missense_Mutation | G | A | p.M241I |
| MCC13_SKIN | 98954005 | 98954127 | 98954109 | 98954109 | Missense_Mutation | G | A | p.D273N |
| ML1_THYROID | 98954005 | 98954127 | 98954119 | 98954119 | Missense_Mutation | C | T | p.T276I |
| LU65_LUNG | 98973636 | 98973758 | 98973674 | 98973674 | Missense_Mutation | C | A | p.Q292K |
| KALS1_CENTRAL_NERVOUS_SYSTEM | 98973636 | 98973758 | 98973752 | 98973752 | Missense_Mutation | T | G | p.C318G |
| MCF7_BREAST | 98991114 | 98991236 | 98991116 | 98991116 | Missense_Mutation | G | C | p.V321L |
| NBTU110_AUTONOMIC_GANGLIA | 98991114 | 98991236 | 98991171 | 98991171 | Missense_Mutation | A | T | p.D339V |
| HCC2998_LARGE_INTESTINE | 98991114 | 98991236 | 98991191 | 98991191 | Missense_Mutation | T | C | p.C346R |
| HEC251_ENDOMETRIUM | 98991114 | 98991236 | 98991199 | 98991199 | Missense_Mutation | A | C | p.E348D |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98991114 | 98991236 | 98991199 | 98991199 | Missense_Mutation | A | C | p.E348D |
| DOV13_OVARY | 99006708 | 99006830 | 99006773 | 99006773 | Missense_Mutation | T | C | p.Y383H |
| TE6_OESOPHAGUS | 99019333 | 99019455 | 99019405 | 99019405 | Missense_Mutation | G | A | p.C467Y |
| NCIH650_LUNG | 99033433 | 99033555 | 99033486 | 99033486 | Missense_Mutation | A | T | p.N625Y |
| ECGI10_OESOPHAGUS | 99039644 | 99040057 | 99039775 | 99039775 | Missense_Mutation | G | A | p.A692T |
| SNGM_ENDOMETRIUM | 99039644 | 99040057 | 99039776 | 99039776 | Missense_Mutation | C | T | p.A692V |
| SW982_SOFT_TISSUE | 99039644 | 99040057 | 99039785 | 99039785 | Missense_Mutation | G | A | p.G695E |
| JHUEM7_ENDOMETRIUM | 99039644 | 99040057 | 99039817 | 99039817 | Missense_Mutation | G | A | p.E706K |
| RKO_LARGE_INTESTINE | 99039644 | 99040057 | 99039845 | 99039845 | Missense_Mutation | C | G | p.A715G |
| HEC59_ENDOMETRIUM | 99039644 | 99040057 | 99039898 | 99039898 | Missense_Mutation | A | G | p.M733V |
| SW48_LARGE_INTESTINE | 99039644 | 99040057 | 99039898 | 99039898 | Missense_Mutation | A | G | p.M733V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99039644 | 99040057 | 99039947 | 99039947 | Missense_Mutation | G | T | p.G749V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 99039644 | 99040057 | 99039947 | 99039947 | Missense_Mutation | G | T | p.G749V |
| NCIH1703_LUNG | 99039644 | 99040057 | 99039962 | 99039962 | Missense_Mutation | C | A | p.P754H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 99044474 | 99044545 | 99044489 | 99044489 | Missense_Mutation | A | G | p.D842G |
| NCIH2087_LUNG | 99044474 | 99044545 | 99044531 | 99044531 | Missense_Mutation | T | C | p.V856A |
| HEC1_ENDOMETRIUM | 98954005 | 98954127 | 98954006 | 98954006 | Splice_Site | G | A | p.T238T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 99019333 | 99019455 | 99019334 | 99019334 | Splice_Site | A | G | p.R443R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MATN2 |
| 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 |
| exon_skip_485136 | 8 | 99042689:99042842:99044473:99044545:99045326:99045404 | 99044473:99044545 | ENST00000521689.1,ENST00000518154.1,ENST00000519582.1 | PRAD | rs2255317 | chr8:99044528 | C/T | 2.84e-03 |
| exon_skip_485136 | 8 | 99042689:99042842:99044473:99044545:99045326:99045404 | 99044473:99044545 | ENST00000521689.1,ENST00000518154.1,ENST00000519582.1 | THCA | rs2255317 | chr8:99044528 | C/T | 9.82e-05 |
| exon_skip_485135 | 8 | 99042689:99042842:99044473:99044545:99045269:99045404 | 99044473:99044545 | ENST00000521952.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000524308.1 | PRAD | rs2255317 | chr8:99044528 | C/T | 2.84e-03 |
| exon_skip_485135 | 8 | 99042689:99042842:99044473:99044545:99045269:99045404 | 99044473:99044545 | ENST00000521952.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000524308.1 | THCA | rs2255317 | chr8:99044528 | C/T | 9.82e-05 |
| exon_skip_485120 | 8 | 98900302:98900470:98943180:98943750:98954004:98954127 | 98943180:98943750 | ENST00000521689.1,ENST00000254898.5,ENST00000520016.1,ENST00000523490.1,ENST00000524308.1 | SARC | rs2290472 | chr8:98943598 | C/T | 7.01e-04 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | GBM | rs11559202 | chr8:99006736 | C/T | 5.47e-12 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | GBM | rs11559201 | chr8:99006748 | C/T | 5.47e-12 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | HNSC | rs11559202 | chr8:99006736 | C/T | 7.19e-10 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | HNSC | rs11559201 | chr8:99006748 | C/T | 7.19e-10 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | KIRP | rs11559202 | chr8:99006736 | C/T | 1.65e-10 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | KIRP | rs11559201 | chr8:99006748 | C/T | 1.65e-10 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | LGG | rs11559201 | chr8:99006748 | C/T | 7.35e-33 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | LGG | rs11559202 | chr8:99006736 | C/T | 1.30e-32 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | LUSC | rs11559202 | chr8:99006736 | C/T | 1.65e-09 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | LUSC | rs11559201 | chr8:99006748 | C/T | 1.65e-09 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | OV | rs11559202 | chr8:99006736 | C/T | 8.24e-18 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | OV | rs11559201 | chr8:99006748 | C/T | 8.24e-18 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | PCPG | rs11559202 | chr8:99006736 | C/T | 3.82e-05 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | PCPG | rs11559201 | chr8:99006748 | C/T | 3.82e-05 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | PRAD | rs11559202 | chr8:99006736 | C/T | 4.07e-33 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | PRAD | rs11559201 | chr8:99006748 | C/T | 4.07e-33 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | THCA | rs11559202 | chr8:99006736 | C/T | 2.11e-43 |
| exon_skip_485127 | 8 | 98991113:98991236:99006707:99006830:99015888:99015962 | 99006707:99006830 | ENST00000521041.1,ENST00000521689.1,ENST00000518154.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1 | THCA | rs11559201 | chr8:99006748 | C/T | 2.11e-43 |
| exon_skip_485126 | 8 | 98973709:98973758:98991113:98991236:99006707:99006824 | 98991113:98991236 | ENST00000519585.1,ENST00000521041.1,ENST00000521689.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1,ENST00000522270.1 | PRAD | rs1869609 | chr8:98991221 | A/G | 3.10e-08 |
| exon_skip_485126 | 8 | 98973709:98973758:98991113:98991236:99006707:99006824 | 98991113:98991236 | ENST00000519585.1,ENST00000521041.1,ENST00000521689.1,ENST00000254898.5,ENST00000520016.1,ENST00000522025.2,ENST00000523490.1,ENST00000522270.1 | THCA | rs1869609 | chr8:98991221 | A/G | 1.08e-07 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MATN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MATN2 |
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RelatedDrugs for MATN2 |
| 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 MATN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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