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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 MSI2 |
 Gene summary |
| Gene information | Gene symbol | MSI2 | Gene ID | 124540 |
| Gene name | musashi RNA binding protein 2 | |
| Synonyms | MSI2H | |
| Cytomap | 17q22 | |
| Type of gene | protein-coding | |
| Description | RNA-binding protein Musashi homolog 2musashi homolog 2musashi-2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96DH6 | |
| Context | PubMed: MSI2 [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 MSI2 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 MSI2 |
| 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 MSI2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_154697 | 17 | 55334484:55334499:55334826:55334908:55335630:55335715 | 55334826:55334908 | ENSG00000153944.6 | ENST00000284073.2,ENST00000584476.1,ENST00000582453.1,ENST00000581776.1,ENST00000322684.3,ENST00000579531.1,ENST00000581523.1,ENST00000579590.1,ENST00000416426.2 |
| exon_skip_154701 | 17 | 55334826:55334908:55335630:55335715:55339511:55339553 | 55335630:55335715 | ENSG00000153944.6 | ENST00000284073.2,ENST00000584476.1,ENST00000582453.1,ENST00000322684.3,ENST00000579531.1,ENST00000581523.1,ENST00000579590.1,ENST00000416426.2 |
| exon_skip_154704 | 17 | 55335632:55335715:55337337:55337415:55339511:55339553 | 55337337:55337415 | ENSG00000153944.6 | ENST00000581776.1 |
| exon_skip_154712 | 17 | 55339511:55339553:55478739:55478832:55607036:55607085 | 55478739:55478832 | ENSG00000153944.6 | ENST00000284073.2,ENST00000582453.1,ENST00000322684.3,ENST00000416426.2 |
| exon_skip_154713 | 17 | 55478739:55478832:55607036:55607085:55674228:55674311 | 55607036:55607085 | ENSG00000153944.6 | ENST00000442934.2,ENST00000579180.1,ENST00000284073.2,ENST00000322684.3,ENST00000416426.2 |
| exon_skip_154717 | 17 | 55607036:55607085:55674228:55674311:55693330:55693445 | 55674228:55674311 | ENSG00000153944.6 | ENST00000442934.2,ENST00000579180.1,ENST00000284073.2,ENST00000579505.1,ENST00000322684.3,ENST00000416426.2 |
| exon_skip_154718 | 17 | 55693330:55693445:55704589:55704664:55729459:55729522 | 55704589:55704664 | ENSG00000153944.6 | ENST00000442934.2,ENST00000284073.2,ENST00000579505.1,ENST00000416426.2 |
| exon_skip_154722 | 17 | 55704589:55704664:55729459:55729522:55752278:55752420 | 55729459:55729522 | ENSG00000153944.6 | ENST00000579505.1,ENST00000416426.2 |
| exon_skip_154723 | 17 | 55704589:55704664:55729459:55729522:55752332:55752417 | 55729459:55729522 | ENSG00000153944.6 | ENST00000442934.2,ENST00000284073.2 |
| exon_skip_154732 | 17 | 55752332:55752487:55754347:55754420:55756909:55757482 | 55754347:55754420 | ENSG00000153944.6 | ENST00000442934.2,ENST00000284073.2,ENST00000416426.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MSI2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_154697 | 17 | 55334484:55334499:55334826:55334908:55335630:55335715 | 55334826:55334908 | ENSG00000153944.6 | ENST00000416426.2,ENST00000284073.2,ENST00000581776.1,ENST00000581523.1,ENST00000582453.1,ENST00000322684.3,ENST00000579590.1,ENST00000579531.1,ENST00000584476.1 |
| exon_skip_154701 | 17 | 55334826:55334908:55335630:55335715:55339511:55339553 | 55335630:55335715 | ENSG00000153944.6 | ENST00000416426.2,ENST00000284073.2,ENST00000581523.1,ENST00000582453.1,ENST00000322684.3,ENST00000579590.1,ENST00000579531.1,ENST00000584476.1 |
| exon_skip_154704 | 17 | 55335632:55335715:55337337:55337415:55339511:55339553 | 55337337:55337415 | ENSG00000153944.6 | ENST00000581776.1 |
| exon_skip_154712 | 17 | 55339511:55339553:55478739:55478832:55607036:55607085 | 55478739:55478832 | ENSG00000153944.6 | ENST00000416426.2,ENST00000284073.2,ENST00000582453.1,ENST00000322684.3 |
| exon_skip_154713 | 17 | 55478739:55478832:55607036:55607085:55674228:55674311 | 55607036:55607085 | ENSG00000153944.6 | ENST00000416426.2,ENST00000284073.2,ENST00000322684.3,ENST00000442934.2,ENST00000579180.1 |
| exon_skip_154717 | 17 | 55607036:55607085:55674228:55674311:55693330:55693445 | 55674228:55674311 | ENSG00000153944.6 | ENST00000416426.2,ENST00000284073.2,ENST00000322684.3,ENST00000442934.2,ENST00000579180.1,ENST00000579505.1 |
| exon_skip_154718 | 17 | 55693330:55693445:55704589:55704664:55729459:55729522 | 55704589:55704664 | ENSG00000153944.6 | ENST00000416426.2,ENST00000284073.2,ENST00000442934.2,ENST00000579505.1 |
| exon_skip_154722 | 17 | 55704589:55704664:55729459:55729522:55752278:55752420 | 55729459:55729522 | ENSG00000153944.6 | ENST00000416426.2,ENST00000579505.1 |
| exon_skip_154723 | 17 | 55704589:55704664:55729459:55729522:55752332:55752417 | 55729459:55729522 | ENSG00000153944.6 | ENST00000284073.2,ENST00000442934.2 |
| exon_skip_154732 | 17 | 55752332:55752487:55754347:55754420:55756909:55757482 | 55754347:55754420 | ENSG00000153944.6 | ENST00000416426.2,ENST00000284073.2,ENST00000442934.2 |
| 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 MSI2 |
| 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 |
| ENST00000284073 | 55754347 | 55754420 | 3UTR-3CDS |
| ENST00000284073 | 55334826 | 55334908 | Frame-shift |
| ENST00000284073 | 55335630 | 55335715 | Frame-shift |
| ENST00000284073 | 55607036 | 55607085 | Frame-shift |
| ENST00000284073 | 55674228 | 55674311 | Frame-shift |
| ENST00000284073 | 55478739 | 55478832 | In-frame |
| ENST00000284073 | 55704589 | 55704664 | In-frame |
| ENST00000284073 | 55729459 | 55729522 | 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 |
| ENST00000284073 | 55754347 | 55754420 | 3UTR-3CDS |
| ENST00000284073 | 55334826 | 55334908 | Frame-shift |
| ENST00000284073 | 55335630 | 55335715 | Frame-shift |
| ENST00000284073 | 55607036 | 55607085 | Frame-shift |
| ENST00000284073 | 55674228 | 55674311 | Frame-shift |
| ENST00000284073 | 55478739 | 55478832 | In-frame |
| ENST00000284073 | 55704589 | 55704664 | In-frame |
| ENST00000284073 | 55729459 | 55729522 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MSI2 |
| 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 |
| ENST00000284073 | 6381 | 328 | 55478739 | 55478832 | 522 | 614 | 104 | 135 |
| ENST00000284073 | 6381 | 328 | 55704589 | 55704664 | 862 | 936 | 217 | 242 |
| ENST00000284073 | 6381 | 328 | 55729459 | 55729522 | 937 | 999 | 242 | 263 |
| 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 |
| ENST00000284073 | 6381 | 328 | 55478739 | 55478832 | 522 | 614 | 104 | 135 |
| ENST00000284073 | 6381 | 328 | 55704589 | 55704664 | 862 | 936 | 217 | 242 |
| ENST00000284073 | 6381 | 328 | 55729459 | 55729522 | 937 | 999 | 242 | 263 |
| 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 |
| Q96DH6 | 104 | 135 | 1 | 104 | Alternative sequence | ID=VSP_011169;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96DH6 | 104 | 135 | 1 | 328 | Chain | ID=PRO_0000081652;Note=RNA-binding protein Musashi homolog 2 |
| Q96DH6 | 104 | 135 | 21 | 111 | Domain | Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96DH6 | 104 | 135 | 110 | 187 | Domain | Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96DH6 | 217 | 242 | 1 | 328 | Chain | ID=PRO_0000081652;Note=RNA-binding protein Musashi homolog 2 |
| Q96DH6 | 217 | 242 | 228 | 228 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| Q96DH6 | 217 | 242 | 217 | 218 | Site | Note=Breakpoint for translocation to form MSI2/HOXA9 fusion protein |
| Q96DH6 | 242 | 263 | 243 | 255 | Alternative sequence | ID=VSP_011170;Note=In isoform 2 and isoform 3. GFPAAAYGPVAAA->DYLPVSQDIIFIN;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96DH6 | 242 | 263 | 256 | 328 | Alternative sequence | ID=VSP_011171;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96DH6 | 242 | 263 | 1 | 328 | Chain | ID=PRO_0000081652;Note=RNA-binding protein Musashi homolog 2 |
| Q96DH6 | 242 | 263 | 253 | 260 | Compositional bias | Note=Poly-Ala |
| Q96DH6 | 242 | 263 | 261 | 261 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| 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 |
| Q96DH6 | 104 | 135 | 1 | 104 | Alternative sequence | ID=VSP_011169;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96DH6 | 104 | 135 | 1 | 328 | Chain | ID=PRO_0000081652;Note=RNA-binding protein Musashi homolog 2 |
| Q96DH6 | 104 | 135 | 21 | 111 | Domain | Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96DH6 | 104 | 135 | 110 | 187 | Domain | Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q96DH6 | 217 | 242 | 1 | 328 | Chain | ID=PRO_0000081652;Note=RNA-binding protein Musashi homolog 2 |
| Q96DH6 | 217 | 242 | 228 | 228 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| Q96DH6 | 217 | 242 | 217 | 218 | Site | Note=Breakpoint for translocation to form MSI2/HOXA9 fusion protein |
| Q96DH6 | 242 | 263 | 243 | 255 | Alternative sequence | ID=VSP_011170;Note=In isoform 2 and isoform 3. GFPAAAYGPVAAA->DYLPVSQDIIFIN;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96DH6 | 242 | 263 | 256 | 328 | Alternative sequence | ID=VSP_011171;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96DH6 | 242 | 263 | 1 | 328 | Chain | ID=PRO_0000081652;Note=RNA-binding protein Musashi homolog 2 |
| Q96DH6 | 242 | 263 | 253 | 260 | Compositional bias | Note=Poly-Ala |
| Q96DH6 | 242 | 263 | 261 | 261 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
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SNVs in the skipped exons for MSI2 |
| - 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. |
MSI2_SARC_exon_skip_154718_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 |
| SARC | TCGA-DX-AB2E-01 | exon_skip_154718 | 55704590 | 55704664 | 55704589 | 55704589 | Splice_Site | G | A | e10-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DX-AB2E-01 |
| Cancer type: SARC | |
| ESID: exon_skip_154718 | |
| Skipped exon start: 55704590 | |
| Skipped exon end: 55704664 | |
| Mutation start: 55704589 | |
| Mutation end: 55704589 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: e10-1 | |
exon_skip_154718_SARC_TCGA-DX-AB2E-01.png | |
exon_skip_352381_SARC_TCGA-DX-AB2E-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 |
| OMC1_CERVIX | 55334827 | 55334908 | 55334872 | 55334872 | Missense_Mutation | G | C | p.C50S |
| EN_ENDOMETRIUM | 55478740 | 55478832 | 55478812 | 55478812 | Missense_Mutation | T | C | p.Y129H |
| CCK81_LARGE_INTESTINE | 55674229 | 55674311 | 55674286 | 55674286 | Missense_Mutation | A | G | p.H171R |
| FADU_UPPER_AERODIGESTIVE_TRACT | 55674229 | 55674311 | 55674294 | 55674294 | Missense_Mutation | G | A | p.E174K |
| HOP92_LUNG | 55674229 | 55674311 | 55674301 | 55674301 | Missense_Mutation | A | G | p.N176S |
| HEC1_ENDOMETRIUM | 55704590 | 55704664 | 55704631 | 55704631 | Missense_Mutation | G | A | p.G232R |
| HEC1B_ENDOMETRIUM | 55704590 | 55704664 | 55704631 | 55704631 | Missense_Mutation | G | A | p.G232R |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55729460 | 55729522 | 55729465 | 55729465 | Missense_Mutation | C | T | p.P245S |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55729460 | 55729522 | 55729490 | 55729490 | Missense_Mutation | C | T | p.A253V |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55729460 | 55729522 | 55729496 | 55729496 | Missense_Mutation | C | T | p.A255V |
| SNU1040_LARGE_INTESTINE | 55729460 | 55729522 | 55729499 | 55729499 | Missense_Mutation | C | T | p.A256V |
| TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55729460 | 55729522 | 55729505 | 55729505 | Missense_Mutation | C | T | p.A258V |
| SNU1040_LARGE_INTESTINE | 55754348 | 55754420 | 55754361 | 55754361 | Missense_Mutation | C | T | p.A320V |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55334827 | 55334908 | 55334828 | 55334828 | Splice_Site | T | C | p.D35D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MSI2 |
| 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 MSI2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MSI2 |
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RelatedDrugs for MSI2 |
| 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 MSI2 |
| 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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