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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 CHMP2A |
 Gene summary |
| Gene information | Gene symbol | CHMP2A | Gene ID | 27243 |
| Gene name | charged multivesicular body protein 2A | |
| Synonyms | BC-2|BC2|CHMP2|VPS2|VPS2A | |
| Cytomap | 19q13.43 | |
| Type of gene | protein-coding | |
| Description | charged multivesicular body protein 2aVPS2 homolog Achromatin modifying protein 2Aputative breast adenocarcinoma marker (32kD)putative breast adenocarcinoma marker BC-2vacuolar protein sorting-associated protein 2-1vps2-1 | |
| Modification date | 20180523 | |
| UniProtAcc | O43633 | |
| Context | PubMed: CHMP2A [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 |
| CHMP2A | GO:0039702 | viral budding via host ESCRT complex | 24878737 |
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Exon skipping events across known transcript of Ensembl for CHMP2A 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 CHMP2A |
| 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 CHMP2A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322832 | 19 | 59062932:59063143:59063272:59063334:59063421:59063552 | 59063272:59063334 | ENSG00000130724.4 | ENST00000312547.2,ENST00000600118.1,ENST00000601220.1 |
| exon_skip_322833 | 19 | 59063421:59063552:59063625:59063805:59065411:59065464 | 59063625:59063805 | ENSG00000130724.4 | ENST00000312547.2,ENST00000600118.1,ENST00000596708.1,ENST00000601220.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHMP2A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322832 | 19 | 59062932:59063143:59063272:59063334:59063421:59063552 | 59063272:59063334 | ENSG00000130724.4 | ENST00000600118.1,ENST00000601220.1,ENST00000312547.2 |
| exon_skip_322833 | 19 | 59063421:59063552:59063625:59063805:59065411:59065464 | 59063625:59063805 | ENSG00000130724.4 | ENST00000600118.1,ENST00000601220.1,ENST00000312547.2,ENST00000596708.1 |
| 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 CHMP2A |
| 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 |
| ENST00000312547 | 59063272 | 59063334 | Frame-shift |
| ENST00000600118 | 59063272 | 59063334 | Frame-shift |
| ENST00000601220 | 59063272 | 59063334 | Frame-shift |
| ENST00000312547 | 59063625 | 59063805 | In-frame |
| ENST00000600118 | 59063625 | 59063805 | In-frame |
| ENST00000601220 | 59063625 | 59063805 | 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 |
| ENST00000312547 | 59063272 | 59063334 | Frame-shift |
| ENST00000600118 | 59063272 | 59063334 | Frame-shift |
| ENST00000601220 | 59063272 | 59063334 | Frame-shift |
| ENST00000312547 | 59063625 | 59063805 | In-frame |
| ENST00000600118 | 59063625 | 59063805 | In-frame |
| ENST00000601220 | 59063625 | 59063805 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHMP2A |
| 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 |
| ENST00000312547 | 930 | 222 | 59063625 | 59063805 | 330 | 509 | 56 | 116 |
| ENST00000600118 | 1195 | 222 | 59063625 | 59063805 | 595 | 774 | 56 | 116 |
| ENST00000601220 | 902 | 222 | 59063625 | 59063805 | 302 | 481 | 56 | 116 |
| 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 |
| ENST00000312547 | 930 | 222 | 59063625 | 59063805 | 330 | 509 | 56 | 116 |
| ENST00000600118 | 1195 | 222 | 59063625 | 59063805 | 595 | 774 | 56 | 116 |
| ENST00000601220 | 902 | 222 | 59063625 | 59063805 | 302 | 481 | 56 | 116 |
| 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 |
| O43633 | 56 | 116 | 1 | 222 | Chain | ID=PRO_0000211462;Note=Charged multivesicular body protein 2a |
| O43633 | 56 | 116 | 1 | 222 | Chain | ID=PRO_0000211462;Note=Charged multivesicular body protein 2a |
| O43633 | 56 | 116 | 1 | 222 | Chain | ID=PRO_0000211462;Note=Charged multivesicular body protein 2a |
| O43633 | 56 | 116 | 56 | 222 | Region | Note=Interaction with VPS4B |
| O43633 | 56 | 116 | 56 | 222 | Region | Note=Interaction with VPS4B |
| O43633 | 56 | 116 | 56 | 222 | Region | Note=Interaction with VPS4B |
| 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 |
| O43633 | 56 | 116 | 1 | 222 | Chain | ID=PRO_0000211462;Note=Charged multivesicular body protein 2a |
| O43633 | 56 | 116 | 1 | 222 | Chain | ID=PRO_0000211462;Note=Charged multivesicular body protein 2a |
| O43633 | 56 | 116 | 1 | 222 | Chain | ID=PRO_0000211462;Note=Charged multivesicular body protein 2a |
| O43633 | 56 | 116 | 56 | 222 | Region | Note=Interaction with VPS4B |
| O43633 | 56 | 116 | 56 | 222 | Region | Note=Interaction with VPS4B |
| O43633 | 56 | 116 | 56 | 222 | Region | Note=Interaction with VPS4B |
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SNVs in the skipped exons for CHMP2A |
| - 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 |
| UCS | TCGA-NF-A5CP-01 | exon_skip_322833 | 59063626 | 59063805 | 59063715 | 59063716 | Frame_Shift_Del | AC | - | p.87_87del |
| UCS | TCGA-NF-A5CP-01 | exon_skip_322833 | 59063626 | 59063805 | 59063715 | 59063716 | Frame_Shift_Del | AC | - | p.VS86fs |
| ESCA | TCGA-2H-A9GR-01 | exon_skip_322832 | 59063273 | 59063334 | 59063275 | 59063275 | Nonsense_Mutation | G | T | p.S180X |
| - 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 |
| LIM1215_LARGE_INTESTINE | 59063273 | 59063334 | 59063282 | 59063282 | Missense_Mutation | C | T | p.E178K |
| G402_SOFT_TISSUE | 59063273 | 59063334 | 59063330 | 59063330 | Missense_Mutation | C | T | p.A162T |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59063626 | 59063805 | 59063648 | 59063648 | Missense_Mutation | G | A | p.A109V |
| HCC1806_BREAST | 59063626 | 59063805 | 59063754 | 59063754 | Missense_Mutation | G | A | p.R74C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59063626 | 59063805 | 59063772 | 59063772 | Missense_Mutation | G | A | p.R68C |
| NCIH1734_LUNG | 59063626 | 59063805 | 59063799 | 59063799 | Missense_Mutation | C | T | p.V59I |
| HEC108_ENDOMETRIUM | 59063626 | 59063805 | 59063804 | 59063804 | Splice_Site | T | C | p.D57G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHMP2A |
| 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 CHMP2A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHMP2A |
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RelatedDrugs for CHMP2A |
| 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 CHMP2A |
| 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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