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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 OVOL2 |
 Gene summary |
| Gene information | Gene symbol | OVOL2 | Gene ID | 58495 |
| Gene name | ovo like zinc finger 2 | |
| Synonyms | CHED|CHED1|CHED2|EUROIMAGE566589|PPCD1|ZNF339 | |
| Cytomap | 20p11.23 | |
| Type of gene | protein-coding | |
| Description | transcription factor Ovo-like 2corneal endothelial dystrophy 1 (autosomal dominant)zinc finger protein 339 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9BRP0 | |
| Context | PubMed: OVOL2 [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 OVOL2 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 OVOL2 |
| 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 OVOL2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_355299 | 20 | 18005242:18005596:18022177:18022367:18037300:18037521 | 18022177:18022367 | ENSG00000125850.6 | ENST00000483661.1,ENST00000278780.6 |
| exon_skip_355300 | 20 | 18022248:18022367:18037300:18037521:18038178:18038521 | 18037300:18037521 | ENSG00000125850.6 | ENST00000278780.6 |
| exon_skip_355302 | 20 | 18022248:18022367:18037300:18037521:18039533:18039694 | 18037300:18037521 | ENSG00000125850.6 | ENST00000483661.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for OVOL2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_355299 | 20 | 18005242:18005596:18022177:18022367:18037300:18037521 | 18022177:18022367 | ENSG00000125850.6 | ENST00000278780.6,ENST00000483661.1 |
| exon_skip_355300 | 20 | 18022248:18022367:18037300:18037521:18038178:18038521 | 18037300:18037521 | ENSG00000125850.6 | ENST00000278780.6 |
| exon_skip_355302 | 20 | 18022248:18022367:18037300:18037521:18039533:18039694 | 18037300:18037521 | ENSG00000125850.6 | ENST00000483661.1 |
| 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 OVOL2 |
| 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 |
| ENST00000278780 | 18022177 | 18022367 | Frame-shift |
| ENST00000278780 | 18037300 | 18037521 | 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 |
| ENST00000278780 | 18022177 | 18022367 | Frame-shift |
| ENST00000278780 | 18037300 | 18037521 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for OVOL2 |
| 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 OVOL2 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_355299 | 18022178 | 18022367 | 18022253 | 18022253 | Frame_Shift_Del | T | - | p.R146fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_355299 | 18022178 | 18022367 | 18022253 | 18022253 | Frame_Shift_Del | T | - | p.R146fs |
| LUSC | TCGA-22-5473-01 | exon_skip_355299 | 18022178 | 18022367 | 18022309 | 18022309 | Frame_Shift_Del | C | - | p.G127fs |
| LUAD | TCGA-44-2657-01 | exon_skip_355299 | 18022178 | 18022367 | 18022316 | 18022317 | Frame_Shift_Del | CA | - | p.C124fs |
| LUAD | TCGA-44-2657-01 | exon_skip_355299 | 18022178 | 18022367 | 18022316 | 18022317 | Frame_Shift_Del | CA | - | p.CG124fs |
| BLCA | TCGA-4Z-AA7R-01 | exon_skip_355300 exon_skip_355302 | 18037301 | 18037521 | 18037360 | 18037360 | Nonsense_Mutation | C | A | p.E88* |
| - 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 |
| OC316_OVARY | 18037301 | 18037521 | 18037490 | 18037490 | Frame_Shift_Del | G | - | p.P44fs |
| HEC59_ENDOMETRIUM | 18037301 | 18037521 | 18037490 | 18037490 | Frame_Shift_Del | G | - | p.P44fs |
| SNU1105_CENTRAL_NERVOUS_SYSTEM | 18037301 | 18037521 | 18037489 | 18037490 | Frame_Shift_Ins | - | G | p.E45fs |
| SNUC4_LARGE_INTESTINE | 18037301 | 18037521 | 18037489 | 18037490 | Frame_Shift_Ins | - | G | p.E45fs |
| HCT116_LARGE_INTESTINE | 18022178 | 18022367 | 18022187 | 18022187 | Missense_Mutation | T | C | p.T168A |
| SNU1040_LARGE_INTESTINE | 18022178 | 18022367 | 18022231 | 18022231 | Missense_Mutation | C | T | p.G153D |
| HCC1395_BREAST | 18022178 | 18022367 | 18022283 | 18022283 | Missense_Mutation | G | A | p.R136C |
| HCC1395_MATCHED_NORMAL_TISSUE | 18022178 | 18022367 | 18022283 | 18022283 | Missense_Mutation | G | A | p.R136C |
| SNUC5_LARGE_INTESTINE | 18022178 | 18022367 | 18022354 | 18022354 | Missense_Mutation | G | A | p.T112M |
| SNUC4_LARGE_INTESTINE | 18037301 | 18037521 | 18037314 | 18037314 | Missense_Mutation | C | A | p.R103I |
| SNU1040_LARGE_INTESTINE | 18037301 | 18037521 | 18037338 | 18037338 | Missense_Mutation | G | A | p.A95V |
| DMS454_LUNG | 18037301 | 18037521 | 18037455 | 18037455 | Missense_Mutation | C | A | p.G56V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OVOL2 |
| 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 OVOL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OVOL2 |
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RelatedDrugs for OVOL2 |
| 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 OVOL2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| OVOL2 | C0206711 | Pilomatrixoma | 1 | CTD_human |
| OVOL2 | C0339284 | Polymorphous corneal dystrophy | 1 | CTD_human;ORPHANET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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