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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 MIOS |
 Gene summary |
| Gene information | Gene symbol | MIOS | Gene ID | 54468 |
| Gene name | meiosis regulator for oocyte development | |
| Synonyms | MIO|Sea4|Yulink | |
| Cytomap | 7p21.3 | |
| Type of gene | protein-coding | |
| Description | GATOR complex protein MIOSH_DJ1159O04.1WD repeat-containing protein mioWUGSC:H_DJ1159O04.1missing oocyte, meiosis regulator, homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NXC5 | |
| Context | PubMed: MIOS [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 MIOS 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 MIOS |
| 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 MIOS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_464383 | 7 | 7606591:7606703:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENSG00000164654.11 | ENST00000405785.1 |
| exon_skip_464389 | 7 | 7606683:7607115:7607237:7607319:7607656:7607754 | 7607237:7607319 | ENSG00000164654.11 | ENST00000433056.1 |
| exon_skip_464392 | 7 | 7607237:7607319:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENSG00000164654.11 | ENST00000445169.1,ENST00000340080.4,ENST00000433056.1 |
| exon_skip_464398 | 7 | 7613728:7613827:7622748:7623003:7625266:7625436 | 7622748:7623003 | ENSG00000164654.11 | ENST00000405785.1,ENST00000340080.4 |
| exon_skip_464406 | 7 | 7628128:7628194:7629035:7629194:7634610:7634763 | 7629035:7629194 | ENSG00000164654.11 | ENST00000405785.1,ENST00000340080.4,ENST00000493227.1 |
| exon_skip_464413 | 7 | 7634610:7634763:7635887:7636092:7645572:7645702 | 7635887:7636092 | ENSG00000164654.11 | ENST00000405785.1,ENST00000340080.4,ENST00000493227.1 |
| exon_skip_464414 | 7 | 7635887:7636092:7645572:7645702:7646626:7646854 | 7645572:7645702 | ENSG00000164654.11 | ENST00000405785.1,ENST00000340080.4,ENST00000493227.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MIOS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_464383 | 7 | 7606591:7606703:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENSG00000164654.11 | ENST00000405785.1 |
| exon_skip_464389 | 7 | 7606683:7607115:7607237:7607319:7607656:7607754 | 7607237:7607319 | ENSG00000164654.11 | ENST00000433056.1 |
| exon_skip_464392 | 7 | 7607237:7607319:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENSG00000164654.11 | ENST00000340080.4,ENST00000433056.1,ENST00000445169.1 |
| exon_skip_464398 | 7 | 7613728:7613827:7622748:7623003:7625266:7625436 | 7622748:7623003 | ENSG00000164654.11 | ENST00000340080.4,ENST00000405785.1 |
| exon_skip_464406 | 7 | 7628128:7628194:7629035:7629194:7634610:7634763 | 7629035:7629194 | ENSG00000164654.11 | ENST00000340080.4,ENST00000405785.1,ENST00000493227.1 |
| exon_skip_464413 | 7 | 7634610:7634763:7635887:7636092:7645572:7645702 | 7635887:7636092 | ENSG00000164654.11 | ENST00000340080.4,ENST00000405785.1,ENST00000493227.1 |
| exon_skip_464414 | 7 | 7635887:7636092:7645572:7645702:7646626:7646854 | 7645572:7645702 | ENSG00000164654.11 | ENST00000340080.4,ENST00000405785.1,ENST00000493227.1 |
| 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 MIOS |
| 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 |
| ENST00000340080 | 7607656 | 7607754 | 5UTR-5UTR |
| ENST00000405785 | 7607656 | 7607754 | 5UTR-5UTR |
| ENST00000340080 | 7635887 | 7636092 | Frame-shift |
| ENST00000405785 | 7635887 | 7636092 | Frame-shift |
| ENST00000340080 | 7645572 | 7645702 | Frame-shift |
| ENST00000405785 | 7645572 | 7645702 | Frame-shift |
| ENST00000340080 | 7622748 | 7623003 | In-frame |
| ENST00000405785 | 7622748 | 7623003 | In-frame |
| ENST00000340080 | 7629035 | 7629194 | In-frame |
| ENST00000405785 | 7629035 | 7629194 | 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 |
| ENST00000340080 | 7607656 | 7607754 | 5UTR-5UTR |
| ENST00000405785 | 7607656 | 7607754 | 5UTR-5UTR |
| ENST00000340080 | 7635887 | 7636092 | Frame-shift |
| ENST00000405785 | 7635887 | 7636092 | Frame-shift |
| ENST00000340080 | 7645572 | 7645702 | Frame-shift |
| ENST00000405785 | 7645572 | 7645702 | Frame-shift |
| ENST00000340080 | 7622748 | 7623003 | In-frame |
| ENST00000405785 | 7622748 | 7623003 | In-frame |
| ENST00000340080 | 7629035 | 7629194 | In-frame |
| ENST00000405785 | 7629035 | 7629194 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MIOS |
| 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 |
| ENST00000340080 | 3470 | 875 | 7622748 | 7623003 | 1815 | 2069 | 464 | 549 |
| ENST00000405785 | 3112 | 875 | 7622748 | 7623003 | 1730 | 1984 | 464 | 549 |
| ENST00000340080 | 3470 | 875 | 7629035 | 7629194 | 2306 | 2464 | 628 | 681 |
| ENST00000405785 | 3112 | 875 | 7629035 | 7629194 | 2221 | 2379 | 628 | 681 |
| 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 |
| ENST00000340080 | 3470 | 875 | 7622748 | 7623003 | 1815 | 2069 | 464 | 549 |
| ENST00000405785 | 3112 | 875 | 7622748 | 7623003 | 1730 | 1984 | 464 | 549 |
| ENST00000340080 | 3470 | 875 | 7629035 | 7629194 | 2306 | 2464 | 628 | 681 |
| ENST00000405785 | 3112 | 875 | 7629035 | 7629194 | 2221 | 2379 | 628 | 681 |
| 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 |
| Q9NXC5 | 464 | 549 | 1 | 875 | Chain | ID=PRO_0000329404;Note=GATOR complex protein MIOS |
| Q9NXC5 | 464 | 549 | 1 | 875 | Chain | ID=PRO_0000329404;Note=GATOR complex protein MIOS |
| Q9NXC5 | 628 | 681 | 568 | 875 | Alternative sequence | ID=VSP_032980;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NXC5 | 628 | 681 | 568 | 875 | Alternative sequence | ID=VSP_032980;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NXC5 | 628 | 681 | 1 | 875 | Chain | ID=PRO_0000329404;Note=GATOR complex protein MIOS |
| Q9NXC5 | 628 | 681 | 1 | 875 | Chain | ID=PRO_0000329404;Note=GATOR complex protein MIOS |
| 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 |
| Q9NXC5 | 464 | 549 | 1 | 875 | Chain | ID=PRO_0000329404;Note=GATOR complex protein MIOS |
| Q9NXC5 | 464 | 549 | 1 | 875 | Chain | ID=PRO_0000329404;Note=GATOR complex protein MIOS |
| Q9NXC5 | 628 | 681 | 568 | 875 | Alternative sequence | ID=VSP_032980;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NXC5 | 628 | 681 | 568 | 875 | Alternative sequence | ID=VSP_032980;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NXC5 | 628 | 681 | 1 | 875 | Chain | ID=PRO_0000329404;Note=GATOR complex protein MIOS |
| Q9NXC5 | 628 | 681 | 1 | 875 | Chain | ID=PRO_0000329404;Note=GATOR complex protein MIOS |
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SNVs in the skipped exons for MIOS |
| - 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_464398 | 7622749 | 7623003 | 7622886 | 7622886 | Frame_Shift_Del | T | - | p.F511fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_464406 | 7629036 | 7629194 | 7629169 | 7629169 | Frame_Shift_Del | A | - | p.Q673fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_464398 | 7622749 | 7623003 | 7622805 | 7622806 | Frame_Shift_Ins | - | A | p.K484fs |
| COAD | TCGA-AA-3492-01 | exon_skip_464414 | 7645573 | 7645702 | 7645613 | 7645614 | Frame_Shift_Ins | - | A | p.D814fs |
| BLCA | TCGA-MV-A51V-01 | exon_skip_464413 | 7635888 | 7636092 | 7635969 | 7635969 | Nonsense_Mutation | C | T | p.Q760* |
| - 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 |
| C33A_CERVIX | 7622749 | 7623003 | 7622998 | 7622998 | Frame_Shift_Del | A | - | p.E548fs |
| SNU1040_LARGE_INTESTINE | 7622749 | 7623003 | 7622872 | 7622872 | Missense_Mutation | T | C | p.V506A |
| HS675T_FIBROBLAST | 7622749 | 7623003 | 7622913 | 7622913 | Missense_Mutation | G | A | p.E520K |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7629036 | 7629194 | 7629077 | 7629077 | Missense_Mutation | G | C | p.E642D |
| HS834T_FIBROBLAST | 7629036 | 7629194 | 7629137 | 7629137 | Missense_Mutation | G | A | p.M662I |
| SNU423_LIVER | 7635888 | 7636092 | 7635921 | 7635921 | Missense_Mutation | A | G | p.I744V |
| BT474_BREAST | 7622749 | 7623003 | 7622820 | 7622820 | Nonsense_Mutation | G | T | p.E489* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MIOS |
| 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_464392 | 7 | 7607237:7607319:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENST00000445169.1,ENST00000340080.4,ENST00000433056.1 | ESCA | rs3757528 | chr7:7607667 | A/C | 1.02e-11 |
| exon_skip_464392 | 7 | 7607237:7607319:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENST00000445169.1,ENST00000340080.4,ENST00000433056.1 | HNSC | rs3757528 | chr7:7607667 | A/C | 3.15e-09 |
| exon_skip_464392 | 7 | 7607237:7607319:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENST00000445169.1,ENST00000340080.4,ENST00000433056.1 | LUSC | rs3757528 | chr7:7607667 | A/C | 1.34e-10 |
| exon_skip_464392 | 7 | 7607237:7607319:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENST00000445169.1,ENST00000340080.4,ENST00000433056.1 | PRAD | rs3757528 | chr7:7607667 | A/C | 2.28e-23 |
| exon_skip_464389 | 7 | 7606683:7607115:7607237:7607319:7607656:7607754 | 7607237:7607319 | ENST00000433056.1 | ESCA | rs79680893 | chr7:7607261 | A/G | 8.36e-12 |
| exon_skip_464389 | 7 | 7606683:7607115:7607237:7607319:7607656:7607754 | 7607237:7607319 | ENST00000433056.1 | HNSC | rs79680893 | chr7:7607261 | A/G | 1.70e-08 |
| exon_skip_464389 | 7 | 7606683:7607115:7607237:7607319:7607656:7607754 | 7607237:7607319 | ENST00000433056.1 | PRAD | rs79680893 | chr7:7607261 | A/G | 1.70e-25 |
| exon_skip_464383 | 7 | 7606591:7606703:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENST00000405785.1 | ESCA | rs3757528 | chr7:7607667 | A/C | 1.02e-11 |
| exon_skip_464383 | 7 | 7606591:7606703:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENST00000405785.1 | HNSC | rs3757528 | chr7:7607667 | A/C | 3.15e-09 |
| exon_skip_464383 | 7 | 7606591:7606703:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENST00000405785.1 | LUSC | rs3757528 | chr7:7607667 | A/C | 1.34e-10 |
| exon_skip_464383 | 7 | 7606591:7606703:7607656:7607754:7612066:7612298 | 7607656:7607754 | ENST00000405785.1 | PRAD | rs3757528 | chr7:7607667 | A/C | 2.28e-23 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MIOS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MIOS |
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RelatedDrugs for MIOS |
| 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 MIOS |
| 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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