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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 MDS2 |
 Gene summary |
| Gene information | Gene symbol | MDS2 | Gene ID | 259283 |
| Gene name | myelodysplastic syndrome 2 translocation associated | |
| Synonyms | - | |
| Cytomap | 1p36.11 | |
| Type of gene | protein-coding | |
| Description | myelodysplastic syndrome 2 translocation-associated protein | |
| Modification date | 20180425 | |
| UniProtAcc | Q8NDY4 | |
| Context | PubMed: MDS2 [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 MDS2 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 MDS2 |
| 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 MDS2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2471 | 1 | 23953823:23954027:23954270:23954488:23954996:23955087 | 23954270:23954488 | ENSG00000197880.4 | ENST00000374555.3 |
| exon_skip_2472 | 1 | 23953823:23954027:23954996:23955087:23955970:23956047 | 23954996:23955087 | ENSG00000197880.4 | ENST00000477916.1 |
| exon_skip_2473 | 1 | 23955970:23956047:23965598:23965741:23966169:23966285 | 23965598:23965741 | ENSG00000197880.4 | ENST00000374555.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MDS2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2471 | 1 | 23953823:23954027:23954270:23954488:23954996:23955087 | 23954270:23954488 | ENSG00000197880.4 | ENST00000374555.3 |
| exon_skip_2472 | 1 | 23953823:23954027:23954996:23955087:23955970:23956047 | 23954996:23955087 | ENSG00000197880.4 | ENST00000477916.1 |
| exon_skip_2473 | 1 | 23955970:23956047:23965598:23965741:23966169:23966285 | 23965598:23965741 | ENSG00000197880.4 | ENST00000374555.3 |
| 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 MDS2 |
| 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 MDS2 |
| 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 MDS2 |
| - 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 |
| - 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 |
| MCC13_SKIN | 23965599 | 23965741 | 23965654 | 23965654 | Missense_Mutation | G | C | p.G20A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MDS2 |
| 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 MDS2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MDS2 |
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RelatedDrugs for MDS2 |
| 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 MDS2 |
| 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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