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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 RFC5 |
 Gene summary |
| Gene information | Gene symbol | RFC5 | Gene ID | 5985 |
| Gene name | replication factor C subunit 5 | |
| Synonyms | RFC36 | |
| Cytomap | 12q24.23 | |
| Type of gene | protein-coding | |
| Description | replication factor C subunit 5A1 36 kDa subunitRF-C 36 kDa subunitRFC, 36.5 kD subunitreplication factor C (activator 1) 5, 36.5kDareplication factor C, 36-kDa subunit | |
| Modification date | 20180523 | |
| UniProtAcc | P40937 | |
| Context | PubMed: RFC5 [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 |
| RFC5 | GO:1900264 | positive regulation of DNA-directed DNA polymerase activity | 12930902 |
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Exon skipping events across known transcript of Ensembl for RFC5 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 RFC5 |
| 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 RFC5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_87482 | 12 | 118454533:118454697:118455494:118455620:118455799:118455858 | 118455494:118455620 | ENSG00000111445.9 | ENST00000484086.2 |
| exon_skip_87483 | 12 | 118454533:118454697:118455494:118455620:118456876:118456941 | 118455494:118455620 | ENSG00000111445.9 | ENST00000229043.3,ENST00000537315.1 |
| exon_skip_87486 | 12 | 118454533:118454697:118455494:118455657:118455799:118455858 | 118455494:118455657 | ENSG00000111445.9 | ENST00000535092.1 |
| exon_skip_87488 | 12 | 118454533:118454697:118455494:118455858:118456876:118456941 | 118455494:118455858 | ENSG00000111445.9 | ENST00000392542.2 |
| exon_skip_87491 | 12 | 118454533:118454697:118455799:118455858:118456876:118456941 | 118455799:118455858 | ENSG00000111445.9 | ENST00000420967.1 |
| exon_skip_87492 | 12 | 118455496:118455620:118455799:118455858:118456876:118456941 | 118455799:118455858 | ENSG00000111445.9 | ENST00000484086.2 |
| exon_skip_87494 | 12 | 118455494:118455657:118455799:118455858:118456876:118456941 | 118455799:118455858 | ENSG00000111445.9 | ENST00000535092.1 |
| exon_skip_87495 | 12 | 118458710:118458790:118460090:118460164:118462655:118462786 | 118460090:118460164 | ENSG00000111445.9 | ENST00000392542.2,ENST00000229043.3,ENST00000537315.1,ENST00000454402.2,ENST00000449641.2 |
| exon_skip_87496 | 12 | 118462720:118462815:118463551:118463633:118464693:118464823 | 118463551:118463633 | ENSG00000111445.9 | ENST00000472603.1,ENST00000392542.2,ENST00000229043.3,ENST00000454402.2 |
| exon_skip_87498 | 12 | 118465766:118465835:118467575:118467630:118468986:118469241 | 118467575:118467630 | ENSG00000111445.9 | ENST00000543153.1,ENST00000392542.2,ENST00000229043.3,ENST00000454402.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RFC5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_87482 | 12 | 118454533:118454697:118455494:118455620:118455799:118455858 | 118455494:118455620 | ENSG00000111445.9 | ENST00000484086.2 |
| exon_skip_87483 | 12 | 118454533:118454697:118455494:118455620:118456876:118456941 | 118455494:118455620 | ENSG00000111445.9 | ENST00000537315.1,ENST00000229043.3 |
| exon_skip_87486 | 12 | 118454533:118454697:118455494:118455657:118455799:118455858 | 118455494:118455657 | ENSG00000111445.9 | ENST00000535092.1 |
| exon_skip_87488 | 12 | 118454533:118454697:118455494:118455858:118456876:118456941 | 118455494:118455858 | ENSG00000111445.9 | ENST00000392542.2 |
| exon_skip_87491 | 12 | 118454533:118454697:118455799:118455858:118456876:118456941 | 118455799:118455858 | ENSG00000111445.9 | ENST00000420967.1 |
| exon_skip_87492 | 12 | 118455496:118455620:118455799:118455858:118456876:118456941 | 118455799:118455858 | ENSG00000111445.9 | ENST00000484086.2 |
| exon_skip_87494 | 12 | 118455494:118455657:118455799:118455858:118456876:118456941 | 118455799:118455858 | ENSG00000111445.9 | ENST00000535092.1 |
| exon_skip_87495 | 12 | 118458710:118458790:118460090:118460164:118462655:118462786 | 118460090:118460164 | ENSG00000111445.9 | ENST00000449641.2,ENST00000537315.1,ENST00000229043.3,ENST00000454402.2,ENST00000392542.2 |
| exon_skip_87496 | 12 | 118462720:118462815:118463551:118463633:118464693:118464823 | 118463551:118463633 | ENSG00000111445.9 | ENST00000229043.3,ENST00000454402.2,ENST00000392542.2,ENST00000472603.1 |
| exon_skip_87498 | 12 | 118465766:118465835:118467575:118467630:118468986:118469241 | 118467575:118467630 | ENSG00000111445.9 | ENST00000229043.3,ENST00000454402.2,ENST00000392542.2,ENST00000543153.1 |
| 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 RFC5 |
| 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 |
| ENST00000454402 | 118460090 | 118460164 | Frame-shift |
| ENST00000454402 | 118463551 | 118463633 | Frame-shift |
| ENST00000454402 | 118467575 | 118467630 | 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 |
| ENST00000454402 | 118460090 | 118460164 | Frame-shift |
| ENST00000454402 | 118463551 | 118463633 | Frame-shift |
| ENST00000454402 | 118467575 | 118467630 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RFC5 |
| 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 RFC5 |
| - 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 |
| KIRC | TCGA-B8-A54I-01 | exon_skip_87496 | 118463552 | 118463633 | 118463571 | 118463571 | Frame_Shift_Del | G | - | p.D200fs |
| COAD | TCGA-CA-6718-01 | exon_skip_87498 | 118467576 | 118467630 | 118467596 | 118467596 | Nonsense_Mutation | C | T | p.R213X |
| STAD | TCGA-BR-8680-01 | exon_skip_87498 | 118467576 | 118467630 | 118467596 | 118467596 | Nonsense_Mutation | C | T | p.R298* |
| STAD | TCGA-BR-8680-01 | exon_skip_87498 | 118467576 | 118467630 | 118467596 | 118467596 | Nonsense_Mutation | C | T | p.R298X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_87498 | 118467576 | 118467630 | 118467596 | 118467596 | Nonsense_Mutation | C | T | p.R277* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_87498 | 118467576 | 118467630 | 118467596 | 118467596 | Nonsense_Mutation | C | T | p.R298X |
| COAD | TCGA-CA-6716-01 | exon_skip_87498 | 118467576 | 118467630 | 118467631 | 118467631 | Splice_Site | G | A | . |
| - 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 |
| EN_ENDOMETRIUM | 118463552 | 118463633 | 118463554 | 118463554 | Missense_Mutation | T | G | p.V195G |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118463552 | 118463633 | 118463576 | 118463576 | Missense_Mutation | G | A | p.M202I |
| COLO792_SKIN | 118463552 | 118463633 | 118463605 | 118463605 | Missense_Mutation | A | G | p.D212G |
| HEC265_ENDOMETRIUM | 118463552 | 118463633 | 118463610 | 118463610 | Missense_Mutation | C | T | p.R214C |
| HEC251_ENDOMETRIUM | 118467576 | 118467630 | 118467597 | 118467597 | Missense_Mutation | G | A | p.R298Q |
| FTC133_THYROID | 118467576 | 118467630 | 118467620 | 118467620 | Missense_Mutation | G | A | p.A306T |
| HT115_LARGE_INTESTINE | 118467576 | 118467630 | 118467596 | 118467596 | Nonsense_Mutation | C | T | p.R298* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RFC5 |
| 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 RFC5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RFC5 |
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RelatedDrugs for RFC5 |
| 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 RFC5 |
| 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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