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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 CHFR |
 Gene summary |
| Gene information | Gene symbol | CHFR | Gene ID | 55743 |
| Gene name | checkpoint with forkhead and ring finger domains | |
| Synonyms | RNF116|RNF196 | |
| Cytomap | 12q24.33 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase CHFRRING finger protein 196RING-type E3 ubiquitin transferase CHFRcheckpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase | |
| Modification date | 20180527 | |
| UniProtAcc | Q96EP1 | |
| Context | PubMed: CHFR [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 |
| CHFR | GO:0000209 | protein polyubiquitination | 19182791 |
| CHFR | GO:0019941 | modification-dependent protein catabolic process | 19182791 |
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Exon skipping events across known transcript of Ensembl for CHFR 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 CHFR |
| 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 CHFR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99188 | 12 | 133418103:133418182:133419596:133419669:133420612:133420720 | 133419596:133419669 | ENSG00000072609.13 | ENST00000541341.1,ENST00000432561.2,ENST00000544268.1,ENST00000541837.2,ENST00000544093.1,ENST00000536843.1,ENST00000315585.7,ENST00000537522.1,ENST00000545659.1,ENST00000538235.1,ENST00000545046.1,ENST00000535527.1,ENST00000450056.2,ENST00000266880.7,ENS |
| exon_skip_99194 | 12 | 133425226:133425310:133428203:133428320:133430016:133430075 | 133428203:133428320 | ENSG00000072609.13 | ENST00000544268.1,ENST00000266880.7 |
| exon_skip_99195 | 12 | 133425226:133425310:133428203:133428323:133430016:133430075 | 133428203:133428323 | ENSG00000072609.13 | ENST00000432561.2,ENST00000541837.2,ENST00000315585.7,ENST00000537522.1,ENST00000450056.2,ENST00000443047.2 |
| exon_skip_99199 | 12 | 133433990:133434145:133435653:133435813:133438052:133438220 | 133435653:133435813 | ENSG00000072609.13 | ENST00000432561.2,ENST00000541837.2,ENST00000315585.7,ENST00000450056.2,ENST00000266880.7,ENST00000443047.2 |
| exon_skip_99201 | 12 | 133435664:133435813:133438052:133438220:133446204:133446384 | 133438052:133438220 | ENSG00000072609.13 | ENST00000432561.2,ENST00000450056.2,ENST00000266880.7 |
| exon_skip_99203 | 12 | 133438132:133438220:133438918:133439011:133447309:133447369 | 133438918:133439011 | ENSG00000072609.13 | ENST00000315585.7 |
| exon_skip_99207 | 12 | 133438132:133438220:133446204:133446384:133447309:133447369 | 133446204:133446384 | ENSG00000072609.13 | ENST00000540963.1,ENST00000541817.1,ENST00000450056.2 |
| exon_skip_99209 | 12 | 133438132:133438220:133446204:133446420:133447309:133447369 | 133446204:133446420 | ENSG00000072609.13 | ENST00000432561.2,ENST00000266880.7 |
| exon_skip_99211 | 12 | 133438132:133438220:133447309:133447369:133448870:133448980 | 133447309:133447369 | ENSG00000072609.13 | ENST00000541837.2 |
| exon_skip_99212 | 12 | 133438132:133438220:133448870:133448980:133454140:133454240 | 133448870:133448980 | ENSG00000072609.13 | ENST00000443047.2 |
| exon_skip_99219 | 12 | 133448870:133448980:133454140:133454240:133463781:133463926 | 133454140:133454240 | ENSG00000072609.13 | ENST00000432561.2,ENST00000536196.1,ENST00000540963.1,ENST00000315585.7,ENST00000535181.1,ENST00000537551.1,ENST00000450056.2,ENST00000266880.7,ENST00000443047.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHFR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99188 | 12 | 133418103:133418182:133419596:133419669:133420612:133420720 | 133419596:133419669 | ENSG00000072609.13 | ENST00000541341.1,ENST00000536843.1,ENST00000315585.7,ENST00000545046.1,ENST00000443047.2,ENST00000450056.2,ENST00000266880.7,ENST00000544268.1,ENST00000537522.1,ENST00000541837.2,ENST00000432561.2,ENST00000545659.1,ENST00000544093.1,ENST00000535527.1,ENS |
| exon_skip_99194 | 12 | 133425226:133425310:133428203:133428320:133430016:133430075 | 133428203:133428320 | ENSG00000072609.13 | ENST00000266880.7,ENST00000544268.1 |
| exon_skip_99195 | 12 | 133425226:133425310:133428203:133428323:133430016:133430075 | 133428203:133428323 | ENSG00000072609.13 | ENST00000315585.7,ENST00000443047.2,ENST00000450056.2,ENST00000537522.1,ENST00000541837.2,ENST00000432561.2 |
| exon_skip_99199 | 12 | 133433990:133434145:133435653:133435813:133438052:133438220 | 133435653:133435813 | ENSG00000072609.13 | ENST00000315585.7,ENST00000443047.2,ENST00000450056.2,ENST00000266880.7,ENST00000541837.2,ENST00000432561.2 |
| exon_skip_99201 | 12 | 133435664:133435813:133438052:133438220:133446204:133446384 | 133438052:133438220 | ENSG00000072609.13 | ENST00000450056.2,ENST00000266880.7,ENST00000432561.2 |
| exon_skip_99203 | 12 | 133438132:133438220:133438918:133439011:133447309:133447369 | 133438918:133439011 | ENSG00000072609.13 | ENST00000315585.7 |
| exon_skip_99207 | 12 | 133438132:133438220:133446204:133446384:133447309:133447369 | 133446204:133446384 | ENSG00000072609.13 | ENST00000450056.2,ENST00000541817.1,ENST00000540963.1 |
| exon_skip_99209 | 12 | 133438132:133438220:133446204:133446420:133447309:133447369 | 133446204:133446420 | ENSG00000072609.13 | ENST00000266880.7,ENST00000432561.2 |
| exon_skip_99211 | 12 | 133438132:133438220:133447309:133447369:133448870:133448980 | 133447309:133447369 | ENSG00000072609.13 | ENST00000541837.2 |
| exon_skip_99212 | 12 | 133438132:133438220:133448870:133448980:133454140:133454240 | 133448870:133448980 | ENSG00000072609.13 | ENST00000443047.2 |
| exon_skip_99216 | 12 | 133438918:133439011:133447309:133447369:133448870:133448980 | 133447309:133447369 | ENSG00000072609.13 | ENST00000315585.7 |
| exon_skip_99219 | 12 | 133448870:133448980:133454140:133454240:133463781:133463926 | 133454140:133454240 | ENSG00000072609.13 | ENST00000315585.7,ENST00000443047.2,ENST00000450056.2,ENST00000266880.7,ENST00000432561.2,ENST00000540963.1,ENST00000537551.1,ENST00000535181.1,ENST00000536196.1 |
| exon_skip_99221 | 12 | 133454146:133454240:133475585:133475799:133485361:133485733 | 133475585:133475799 | ENSG00000072609.13 | ENST00000540537.1 |
| 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 CHFR |
| 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 |
| ENST00000432561 | 133419596 | 133419669 | Frame-shift |
| ENST00000432561 | 133435653 | 133435813 | Frame-shift |
| ENST00000432561 | 133454140 | 133454240 | Frame-shift |
| ENST00000432561 | 133428203 | 133428323 | In-frame |
| ENST00000432561 | 133438052 | 133438220 | In-frame |
| ENST00000432561 | 133446204 | 133446420 | 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 |
| ENST00000432561 | 133419596 | 133419669 | Frame-shift |
| ENST00000432561 | 133435653 | 133435813 | Frame-shift |
| ENST00000432561 | 133454140 | 133454240 | Frame-shift |
| ENST00000432561 | 133428203 | 133428323 | In-frame |
| ENST00000432561 | 133438052 | 133438220 | In-frame |
| ENST00000432561 | 133446204 | 133446420 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHFR |
| 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 |
| ENST00000432561 | 2665 | 664 | 133446204 | 133446420 | 478 | 693 | 134 | 206 |
| ENST00000432561 | 2665 | 664 | 133438052 | 133438220 | 694 | 861 | 206 | 262 |
| ENST00000432561 | 2665 | 664 | 133428203 | 133428323 | 1483 | 1602 | 469 | 509 |
| 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 |
| ENST00000432561 | 2665 | 664 | 133446204 | 133446420 | 478 | 693 | 134 | 206 |
| ENST00000432561 | 2665 | 664 | 133438052 | 133438220 | 694 | 861 | 206 | 262 |
| ENST00000432561 | 2665 | 664 | 133428203 | 133428323 | 1483 | 1602 | 469 | 509 |
| 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 |
| Q96EP1 | 134 | 206 | 115 | 207 | Alternative sequence | ID=VSP_038126;Note=In isoform 5. NVAYLYESLSEKQGMTQESFEANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSCG->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EP1 | 134 | 206 | 135 | 146 | Alternative sequence | ID=VSP_009349;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96EP1 | 134 | 206 | 136 | 206 | Alternative sequence | ID=VSP_009350;Note=In isoform 3. ANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSC->MVPCCVAQAGLKLLGSSDPPTLASQSIVIT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EP1 | 134 | 206 | 1 | 664 | Chain | ID=PRO_0000055872;Note=E3 ubiquitin-protein ligase CHFR |
| Q96EP1 | 134 | 206 | 205 | 205 | Mutagenesis | Note=Abolishes phosphorylation but not autoubiquitination%3B when associated with A-39. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14638868;Dbxref=PMID:14638868 |
| Q96EP1 | 134 | 206 | 166 | 166 | Natural variant | ID=VAR_017582;Note=In a patient with non small cell lung carcinomas%3B homozygous. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14612512;Dbxref=dbSNP:rs1176037831,PMID:14612512 |
| Q96EP1 | 134 | 206 | 202 | 202 | Natural variant | ID=VAR_017583;Note=In a patient with non small cell lung carcinomas. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14612512;Dbxref=PMID:14612512 |
| Q96EP1 | 206 | 262 | 115 | 207 | Alternative sequence | ID=VSP_038126;Note=In isoform 5. NVAYLYESLSEKQGMTQESFEANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSCG->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EP1 | 206 | 262 | 136 | 206 | Alternative sequence | ID=VSP_009350;Note=In isoform 3. ANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSC->MVPCCVAQAGLKLLGSSDPPTLASQSIVIT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EP1 | 206 | 262 | 1 | 664 | Chain | ID=PRO_0000055872;Note=E3 ubiquitin-protein ligase CHFR |
| Q96EP1 | 206 | 262 | 244 | 244 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q96EP1 | 206 | 262 | 256 | 256 | Sequence conflict | Note=V->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EP1 | 469 | 509 | 470 | 470 | Alternative sequence | ID=VSP_038127;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EP1 | 469 | 509 | 482 | 484 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XOC |
| Q96EP1 | 469 | 509 | 491 | 493 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XOC |
| Q96EP1 | 469 | 509 | 1 | 664 | Chain | ID=PRO_0000055872;Note=E3 ubiquitin-protein ligase CHFR |
| Q96EP1 | 469 | 509 | 496 | 500 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XOC |
| Q96EP1 | 469 | 509 | 497 | 497 | Natural variant | ID=VAR_017585;Note=Common polymorphism. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11948416,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2306541,PMID:11948416,PMID:15489334 |
| Q96EP1 | 469 | 509 | 486 | 488 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XOC |
| 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 |
| Q96EP1 | 134 | 206 | 115 | 207 | Alternative sequence | ID=VSP_038126;Note=In isoform 5. NVAYLYESLSEKQGMTQESFEANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSCG->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EP1 | 134 | 206 | 135 | 146 | Alternative sequence | ID=VSP_009349;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q96EP1 | 134 | 206 | 136 | 206 | Alternative sequence | ID=VSP_009350;Note=In isoform 3. ANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSC->MVPCCVAQAGLKLLGSSDPPTLASQSIVIT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EP1 | 134 | 206 | 1 | 664 | Chain | ID=PRO_0000055872;Note=E3 ubiquitin-protein ligase CHFR |
| Q96EP1 | 134 | 206 | 205 | 205 | Mutagenesis | Note=Abolishes phosphorylation but not autoubiquitination%3B when associated with A-39. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14638868;Dbxref=PMID:14638868 |
| Q96EP1 | 134 | 206 | 166 | 166 | Natural variant | ID=VAR_017582;Note=In a patient with non small cell lung carcinomas%3B homozygous. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14612512;Dbxref=dbSNP:rs1176037831,PMID:14612512 |
| Q96EP1 | 134 | 206 | 202 | 202 | Natural variant | ID=VAR_017583;Note=In a patient with non small cell lung carcinomas. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14612512;Dbxref=PMID:14612512 |
| Q96EP1 | 206 | 262 | 115 | 207 | Alternative sequence | ID=VSP_038126;Note=In isoform 5. NVAYLYESLSEKQGMTQESFEANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSCG->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EP1 | 206 | 262 | 136 | 206 | Alternative sequence | ID=VSP_009350;Note=In isoform 3. ANKENVFHGTKDTSGAGAGRGADPRVPPSSPATQVCFEEPQPSTSTSDLFPTASASSTEPSPAGRERSSSC->MVPCCVAQAGLKLLGSSDPPTLASQSIVIT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EP1 | 206 | 262 | 1 | 664 | Chain | ID=PRO_0000055872;Note=E3 ubiquitin-protein ligase CHFR |
| Q96EP1 | 206 | 262 | 244 | 244 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q96EP1 | 206 | 262 | 256 | 256 | Sequence conflict | Note=V->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EP1 | 469 | 509 | 470 | 470 | Alternative sequence | ID=VSP_038127;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EP1 | 469 | 509 | 482 | 484 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XOC |
| Q96EP1 | 469 | 509 | 491 | 493 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XOC |
| Q96EP1 | 469 | 509 | 1 | 664 | Chain | ID=PRO_0000055872;Note=E3 ubiquitin-protein ligase CHFR |
| Q96EP1 | 469 | 509 | 496 | 500 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XOC |
| Q96EP1 | 469 | 509 | 497 | 497 | Natural variant | ID=VAR_017585;Note=Common polymorphism. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11948416,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2306541,PMID:11948416,PMID:15489334 |
| Q96EP1 | 469 | 509 | 486 | 488 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XOC |
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SNVs in the skipped exons for CHFR |
| - 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-DM-A28F-01 | exon_skip_99212 | 133448871 | 133448980 | 133448924 | 133448925 | Frame_Shift_Del | AA | - | p.97_97del |
| KIRC | TCGA-BP-4163-01 | exon_skip_99199 | 133435654 | 133435813 | 133435721 | 133435722 | Frame_Shift_Ins | - | C | p.K294fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_99207 | 133446205 | 133446384 | 133446307 | 133446308 | Frame_Shift_Ins | - | A | p.LG172fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_99209 | 133446205 | 133446420 | 133446307 | 133446308 | Frame_Shift_Ins | - | A | p.LG172fs |
| STAD | TCGA-CG-5721-01 | exon_skip_99212 | 133448871 | 133448980 | 133448912 | 133448913 | Frame_Shift_Ins | - | C | p.D101fs |
| STAD | TCGA-CG-5721-01 | exon_skip_99212 | 133448871 | 133448980 | 133448913 | 133448914 | Frame_Shift_Ins | - | C | p.D101fs |
| BLCA | TCGA-DK-A1A3-01 | exon_skip_99194 | 133428204 | 133428320 | 133428210 | 133428210 | Nonsense_Mutation | G | A | p.Q507* |
| BLCA | TCGA-DK-A1A3-01 | exon_skip_99194 | 133428204 | 133428320 | 133428210 | 133428210 | Nonsense_Mutation | G | A | p.Q508* |
| BLCA | TCGA-DK-A1A3-01 | exon_skip_99195 | 133428204 | 133428323 | 133428210 | 133428210 | Nonsense_Mutation | G | A | p.Q507* |
| BLCA | TCGA-DK-A1A3-01 | exon_skip_99195 | 133428204 | 133428323 | 133428210 | 133428210 | Nonsense_Mutation | G | A | p.Q508* |
| CESC | TCGA-DG-A2KL-01 | exon_skip_99219 | 133454141 | 133454240 | 133454168 | 133454168 | Nonsense_Mutation | G | C | p.S69* |
| - 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 |
| KATOIII_STOMACH | 133419597 | 133419669 | 133419664 | 133419664 | Missense_Mutation | C | T | p.V629I |
| HEC1A_ENDOMETRIUM | 133419597 | 133419669 | 133419664 | 133419664 | Missense_Mutation | C | T | p.V629I |
| HEC1_ENDOMETRIUM | 133419597 | 133419669 | 133419664 | 133419664 | Missense_Mutation | C | T | p.V629I |
| HEC1B_ENDOMETRIUM | 133419597 | 133419669 | 133419664 | 133419664 | Missense_Mutation | C | T | p.V629I |
| SNU175_LARGE_INTESTINE | 133428204 | 133428320 | 133428222 | 133428223 | Missense_Mutation | GC | AT | p.R504C |
| SNU175_LARGE_INTESTINE | 133428204 | 133428323 | 133428222 | 133428223 | Missense_Mutation | GC | AT | p.R504C |
| SNU175_LARGE_INTESTINE | 133428204 | 133428320 | 133428222 | 133428222 | Missense_Mutation | G | A | p.R504C |
| SNU175_LARGE_INTESTINE | 133428204 | 133428323 | 133428222 | 133428222 | Missense_Mutation | G | A | p.R504C |
| AN3CA_ENDOMETRIUM | 133428204 | 133428320 | 133428233 | 133428233 | Missense_Mutation | T | C | p.E500G |
| AN3CA_ENDOMETRIUM | 133428204 | 133428323 | 133428233 | 133428233 | Missense_Mutation | T | C | p.E500G |
| KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133428204 | 133428320 | 133428236 | 133428236 | Missense_Mutation | C | T | p.R499H |
| KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133428204 | 133428323 | 133428236 | 133428236 | Missense_Mutation | C | T | p.R499H |
| 639V_URINARY_TRACT | 133428204 | 133428320 | 133428251 | 133428251 | Missense_Mutation | T | C | p.D494G |
| 639V_URINARY_TRACT | 133428204 | 133428323 | 133428251 | 133428251 | Missense_Mutation | T | C | p.D494G |
| WM2664_SKIN | 133428204 | 133428320 | 133428260 | 133428260 | Missense_Mutation | G | A | p.P491L |
| WM2664_SKIN | 133428204 | 133428323 | 133428260 | 133428260 | Missense_Mutation | G | A | p.P491L |
| WM115_SKIN | 133428204 | 133428320 | 133428260 | 133428260 | Missense_Mutation | G | A | p.P491L |
| WM115_SKIN | 133428204 | 133428323 | 133428260 | 133428260 | Missense_Mutation | G | A | p.P491L |
| TE4_OESOPHAGUS | 133428204 | 133428320 | 133428315 | 133428315 | Missense_Mutation | C | A | p.D473Y |
| TE4_OESOPHAGUS | 133428204 | 133428323 | 133428315 | 133428315 | Missense_Mutation | C | A | p.D473Y |
| CCK81_LARGE_INTESTINE | 133435654 | 133435813 | 133435769 | 133435769 | Missense_Mutation | G | A | p.R278C |
| NCIH358_LUNG | 133435654 | 133435813 | 133435771 | 133435771 | Missense_Mutation | G | A | p.P277L |
| GP2D_LARGE_INTESTINE | 133438053 | 133438220 | 133438064 | 133438064 | Missense_Mutation | T | C | p.K259R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133438053 | 133438220 | 133438089 | 133438089 | Missense_Mutation | C | T | p.E251K |
| HEC108_ENDOMETRIUM | 133438053 | 133438220 | 133438122 | 133438122 | Missense_Mutation | C | A | p.A240S |
| MCC13_SKIN | 133438053 | 133438220 | 133438181 | 133438181 | Missense_Mutation | G | A | p.P220L |
| HUCCT1_BILIARY_TRACT | 133438053 | 133438220 | 133438184 | 133438184 | Missense_Mutation | C | A | p.G219V |
| NCC010_KIDNEY | 133446205 | 133446384 | 133446294 | 133446294 | Missense_Mutation | G | A | p.P177L |
| NCC010_KIDNEY | 133446205 | 133446420 | 133446294 | 133446294 | Missense_Mutation | G | A | p.P177L |
| NCIH513_PLEURA | 133446205 | 133446384 | 133446307 | 133446307 | Missense_Mutation | C | G | p.E173Q |
| NCIH513_PLEURA | 133446205 | 133446420 | 133446307 | 133446307 | Missense_Mutation | C | G | p.E173Q |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133446205 | 133446384 | 133446336 | 133446336 | Missense_Mutation | G | T | p.P163Q |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133446205 | 133446420 | 133446336 | 133446336 | Missense_Mutation | G | T | p.P163Q |
| RCCJW_KIDNEY | 133446205 | 133446420 | 133446418 | 133446418 | Missense_Mutation | C | A | p.A136S |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133448871 | 133448980 | 133448920 | 133448920 | Missense_Mutation | C | A | p.Q98H |
| MZ1PC_PANCREAS | 133446205 | 133446384 | 133446244 | 133446245 | Nonsense_Mutation | CC | AA | p.E194* |
| MZ1PC_PANCREAS | 133446205 | 133446420 | 133446244 | 133446245 | Nonsense_Mutation | CC | AA | p.E194* |
| HO1N1_UPPER_AERODIGESTIVE_TRACT | 133446205 | 133446384 | 133446361 | 133446361 | Nonsense_Mutation | G | A | p.R155* |
| HO1N1_UPPER_AERODIGESTIVE_TRACT | 133446205 | 133446420 | 133446361 | 133446361 | Nonsense_Mutation | G | A | p.R155* |
| SKN_ENDOMETRIUM | 133435654 | 133435813 | 133435812 | 133435812 | Splice_Site | A | C | p.D263E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHFR |
| 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 |
| exon_skip_99203 | 12 | 133438132:133438220:133438918:133439011:133447309:133447369 | 133438918:133439011 | ENST00000315585.7 | LUSC | rs9943856 | chr12:133439002 | G/A | 6.32e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHFR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHFR |
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RelatedDrugs for CHFR |
| 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 CHFR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CHFR | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| CHFR | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| CHFR | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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