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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 C12orf50 |
 Gene summary |
| Gene information | Gene symbol | C12orf50 | Gene ID | 160419 |
| Gene name | chromosome 12 open reading frame 50 | |
| Synonyms | - | |
| Cytomap | 12q21.32 | |
| Type of gene | protein-coding | |
| Description | uncharacterized protein C12orf50 | |
| Modification date | 20180524 | |
| UniProtAcc | Q8NA57 | |
| Context | PubMed: C12orf50 [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 C12orf50 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 C12orf50 |
| 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 C12orf50 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95110 | 12 | 88380088:88380193:88381626:88381743:88383040:88383148 | 88381626:88381743 | ENSG00000165805.5 | ENST00000298699.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C12orf50 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95110 | 12 | 88380088:88380193:88381626:88381743:88383040:88383148 | 88381626:88381743 | ENSG00000165805.5 | ENST00000298699.2 |
| 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 C12orf50 |
| 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 |
| ENST00000298699 | 88381626 | 88381743 | 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 |
| ENST00000298699 | 88381626 | 88381743 | In-frame |
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Infer the effects of exon skipping event on protein functional features for C12orf50 |
| 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 |
| ENST00000298699 | 1735 | 414 | 88381626 | 88381743 | 882 | 998 | 233 | 272 |
| 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 |
| ENST00000298699 | 1735 | 414 | 88381626 | 88381743 | 882 | 998 | 233 | 272 |
| 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 |
| Q8NA57 | 233 | 272 | 1 | 414 | Chain | ID=PRO_0000295234;Note=Uncharacterized protein C12orf50 |
| 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 |
| Q8NA57 | 233 | 272 | 1 | 414 | Chain | ID=PRO_0000295234;Note=Uncharacterized protein C12orf50 |
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SNVs in the skipped exons for C12orf50 |
| - 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 |
| HNSC | TCGA-CR-7370-01 | exon_skip_95110 | 88381627 | 88381743 | 88381702 | 88381702 | Nonsense_Mutation | G | A | p.R248* |
| - 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 |
| KM12_LARGE_INTESTINE | 88381627 | 88381743 | 88381644 | 88381644 | Missense_Mutation | C | T | p.R267K |
| SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 88381627 | 88381743 | 88381695 | 88381695 | Missense_Mutation | A | G | p.V250A |
| HT115_LARGE_INTESTINE | 88381627 | 88381743 | 88381718 | 88381718 | Missense_Mutation | C | A | p.K242N |
| MM426_SKIN | 88381627 | 88381743 | 88381723 | 88381723 | Missense_Mutation | G | A | p.P241S |
| HT115_LARGE_INTESTINE | 88381627 | 88381743 | 88381735 | 88381735 | Missense_Mutation | C | T | p.D237N |
| LNCAPCLONEFGC_PROSTATE | 88381627 | 88381743 | 88381737 | 88381737 | Missense_Mutation | T | A | p.K236M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C12orf50 |
| 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 C12orf50 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C12orf50 |
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RelatedDrugs for C12orf50 |
| 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 C12orf50 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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