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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 RFC3 |
 Gene summary |
| Gene information | Gene symbol | RFC3 | Gene ID | 5983 |
| Gene name | replication factor C subunit 3 | |
| Synonyms | RFC38 | |
| Cytomap | 13q13.2 | |
| Type of gene | protein-coding | |
| Description | replication factor C subunit 3A1 38 kDa subunitRF-C 38 kDa subunitRFC, 38 kD subunitactivator 1 38 kDa subunitactivator 1 subunit 3replication factor C (activator 1) 3, 38kDareplication factor C 38 kDa subunit | |
| Modification date | 20180523 | |
| UniProtAcc | P40938 | |
| Context | PubMed: RFC3 [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 |
| RFC3 | GO:0006260 | DNA replication | 9488738 |
| RFC3 | GO:1900264 | positive regulation of DNA-directed DNA polymerase activity | 12930902 |
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Exon skipping events across known transcript of Ensembl for RFC3 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 RFC3 |
| 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 RFC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99766 | 13 | 34398053:34398121:34399925:34400023:34403972:34404154 | 34399925:34400023 | ENSG00000133119.8 | ENST00000380071.3,ENST00000434425.1 |
| exon_skip_99769 | 13 | 34405392:34405491:34409284:34409354:34540223:34540695 | 34409284:34409354 | ENSG00000133119.8 | ENST00000434425.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RFC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99766 | 13 | 34398053:34398121:34399925:34400023:34403972:34404154 | 34399925:34400023 | ENSG00000133119.8 | ENST00000380071.3,ENST00000434425.1 |
| exon_skip_99769 | 13 | 34405392:34405491:34409284:34409354:34540223:34540695 | 34409284:34409354 | ENSG00000133119.8 | ENST00000434425.1 |
| 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 RFC3 |
| 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 |
| ENST00000380071 | 34399925 | 34400023 | 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 |
| ENST00000380071 | 34399925 | 34400023 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RFC3 |
| 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 RFC3 |
| - 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-F7-A624-01 | exon_skip_99766 | 34399926 | 34400023 | 34399981 | 34399982 | Frame_Shift_Ins | - | A | p.I117fs |
| - 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 |
| ISTSL2_LUNG | 34399926 | 34400023 | 34399933 | 34399933 | Missense_Mutation | G | C | p.G101R |
| T3M10_LUNG | 34399926 | 34400023 | 34399965 | 34399965 | Missense_Mutation | G | A | p.M111I |
| 647V_URINARY_TRACT | 34399926 | 34400023 | 34399965 | 34399965 | Missense_Mutation | G | A | p.M111I |
| SNU1040_LARGE_INTESTINE | 34399926 | 34400023 | 34399978 | 34399978 | Missense_Mutation | G | A | p.A116T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RFC3 |
| 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 RFC3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RFC3 |
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RelatedDrugs for RFC3 |
| 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 RFC3 |
| 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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