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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 SV2C |
 Gene summary |
| Gene information | Gene symbol | SV2C | Gene ID | 22987 |
| Gene name | synaptic vesicle glycoprotein 2C | |
| Synonyms | - | |
| Cytomap | 5q13.3 | |
| Type of gene | protein-coding | |
| Description | synaptic vesicle glycoprotein 2Csynaptic vesicle protein 2C | |
| Modification date | 20180523 | |
| UniProtAcc | Q496J9 | |
| Context | PubMed: SV2C [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 SV2C 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 SV2C |
| 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 SV2C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435804 | 5 | 75427474:75428155:75490743:75490924:75505560:75505712 | 75490743:75490924 | ENSG00000122012.9 | ENST00000502798.2,ENST00000322285.7 |
| exon_skip_435806 | 5 | 75591602:75591767:75594618:75594752:75596553:75596757 | 75594618:75594752 | ENSG00000122012.9 | ENST00000502798.2,ENST00000322285.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SV2C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435804 | 5 | 75427474:75428155:75490743:75490924:75505560:75505712 | 75490743:75490924 | ENSG00000122012.9 | ENST00000502798.2,ENST00000322285.7 |
| exon_skip_435806 | 5 | 75591602:75591767:75594618:75594752:75596553:75596757 | 75594618:75594752 | ENSG00000122012.9 | ENST00000502798.2,ENST00000322285.7 |
| 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 SV2C |
| 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 |
| ENST00000502798 | 75490743 | 75490924 | Frame-shift |
| ENST00000502798 | 75594618 | 75594752 | 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 |
| ENST00000502798 | 75490743 | 75490924 | Frame-shift |
| ENST00000502798 | 75594618 | 75594752 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SV2C |
| 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 SV2C |
| - 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 |
| COAD | TCGA-A6-6780-01 | exon_skip_435804 | 75490744 | 75490924 | 75490798 | 75490801 | Frame_Shift_Del | CAGA | - | p.212_213del |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_435804 | 75490744 | 75490924 | 75490893 | 75490893 | Frame_Shift_Del | T | - | p.F244fs |
| UCEC | TCGA-DI-A0WH-01 | exon_skip_435806 | 75594619 | 75594752 | 75594663 | 75594663 | Frame_Shift_Del | T | - | p.V516fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_435806 | 75594619 | 75594752 | 75594738 | 75594738 | Frame_Shift_Del | T | - | p.V541fs |
| HNSC | TCGA-CV-A461-01 | exon_skip_435804 | 75490744 | 75490924 | 75490835 | 75490835 | Nonsense_Mutation | C | A | p.C224* |
| - 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 |
| TE4_OESOPHAGUS | 75490744 | 75490924 | 75490817 | 75490817 | Missense_Mutation | A | T | p.K218N |
| JHUEM7_ENDOMETRIUM | 75490744 | 75490924 | 75490853 | 75490853 | Missense_Mutation | C | A | p.F230L |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 75490744 | 75490924 | 75490853 | 75490853 | Missense_Mutation | C | A | p.F230L |
| CCK81_LARGE_INTESTINE | 75490744 | 75490924 | 75490873 | 75490873 | Missense_Mutation | T | G | p.F237C |
| ACCMESO1_PLEURA | 75490744 | 75490924 | 75490877 | 75490878 | Missense_Mutation | CC | GA | p.Q239K |
| NCIH1339_LUNG | 75490744 | 75490924 | 75490906 | 75490906 | Missense_Mutation | G | T | p.R248L |
| KMH2_THYROID | 75594619 | 75594752 | 75594625 | 75594625 | Missense_Mutation | A | G | p.I503M |
| NB69_AUTONOMIC_GANGLIA | 75594619 | 75594752 | 75594629 | 75594629 | Missense_Mutation | G | A | p.V505I |
| CORL279_LUNG | 75594619 | 75594752 | 75594637 | 75594637 | Missense_Mutation | C | A | p.F507L |
| JHOC5_OVARY | 75594619 | 75594752 | 75594708 | 75594708 | Missense_Mutation | A | G | p.Y531C |
| NCIH1563_LUNG | 75490744 | 75490924 | 75490757 | 75490757 | Nonsense_Mutation | C | A | p.Y198* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 75490744 | 75490924 | 75490745 | 75490745 | Splice_Site | C | T | p.G194G |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75490744 | 75490924 | 75490745 | 75490745 | Splice_Site | C | T | p.G194G |
| MFE319_ENDOMETRIUM | 75594619 | 75594752 | 75594751 | 75594751 | Splice_Site | A | G | p.T545T |
| EFO27_OVARY | 75594619 | 75594752 | 75594752 | 75594752 | Splice_Site | G | T | p.D546Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SV2C |
| 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 SV2C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SV2C |
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RelatedDrugs for SV2C |
| 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 SV2C |
| 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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