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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 VPS37B |
 Gene summary |
| Gene information | Gene symbol | VPS37B | Gene ID | 79720 |
| Gene name | VPS37B, ESCRT-I subunit | |
| Synonyms | - | |
| Cytomap | 12q24.31 | |
| Type of gene | protein-coding | |
| Description | vacuolar protein sorting-associated protein 37BESCRT-I complex subunit VPS37BhVps37Bvacuolar protein sorting 37 homolog Bvacuolar protein sorting 37B | |
| Modification date | 20180522 | |
| UniProtAcc | Q9H9H4 | |
| Context | PubMed: VPS37B [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 VPS37B 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 VPS37B |
| 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 VPS37B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_98085 | 12 | 123351961:123352154:123353026:123353109:123355436:123355602 | 123353026:123353109 | ENSG00000139722.2 | ENST00000535765.1,ENST00000267202.2,ENST00000371248.3 |
| exon_skip_98093 | 12 | 123353026:123353109:123355436:123355602:123380498:123380674 | 123355436:123355602 | ENSG00000139722.2 | ENST00000535765.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VPS37B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_98085 | 12 | 123351961:123352154:123353026:123353109:123355436:123355602 | 123353026:123353109 | ENSG00000139722.2 | ENST00000267202.2,ENST00000535765.1,ENST00000371248.3 |
| exon_skip_98093 | 12 | 123353026:123353109:123355436:123355602:123380498:123380674 | 123355436:123355602 | ENSG00000139722.2 | ENST00000535765.1 |
| 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 VPS37B |
| 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 |
| ENST00000267202 | 123353026 | 123353109 | Frame-shift |
| 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 |
| ENST00000267202 | 123353026 | 123353109 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for VPS37B |
| 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 VPS37B |
| - 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 |
| BLCA | TCGA-XF-A9SJ-01 | exon_skip_98093 | 123355437 | 123355602 | 123355596 | 123355596 | Nonsense_Mutation | G | A | p.Q42* |
| - 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 |
| MZ7MEL_SKIN | 123353027 | 123353109 | 123353065 | 123353065 | Missense_Mutation | G | A | p.L110F |
| DOK_UPPER_AERODIGESTIVE_TRACT | 123353027 | 123353109 | 123353067 | 123353067 | Missense_Mutation | A | C | p.L109R |
| HEC151_ENDOMETRIUM | 123353027 | 123353109 | 123353077 | 123353077 | Missense_Mutation | G | T | p.L106M |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123355437 | 123355602 | 123355476 | 123355476 | Missense_Mutation | C | T | p.V82I |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 123355437 | 123355602 | 123355485 | 123355485 | Missense_Mutation | C | T | p.E79K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VPS37B |
| 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 VPS37B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VPS37B |
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RelatedDrugs for VPS37B |
| 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 VPS37B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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