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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 RNF175 |
Gene summary |
| Gene information | Gene symbol | RNF175 | Gene ID | 285533 |
| Gene name | ring finger protein 175 | |
| Synonyms | - | |
| Cytomap | 4q31.3 | |
| Type of gene | protein-coding | |
| Description | RING finger protein 175 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N4F7 | |
| Context | PubMed: RNF175 [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 RNF175 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 RNF175 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RNF175 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432680 | 4 | 154631276:154631641:154633626:154633728:154636680:154636814 | 154633626:154633728 | ENSG00000145428.10 | ENST00000347063.4 |
| exon_skip_432683 | 4 | 154644551:154644610:154649358:154649513:154666820:154666879 | 154649358:154649513 | ENSG00000145428.10 | ENST00000508967.1 |
| exon_skip_432684 | 4 | 154644551:154644610:154649358:154649513:154669796:154669901 | 154649358:154649513 | ENSG00000145428.10 | ENST00000507512.1,ENST00000347063.4 |
| exon_skip_432685 | 4 | 154644551:154644610:154649358:154649513:154672589:154672599 | 154649358:154649513 | ENSG00000145428.10 | ENST00000513656.1 |
| exon_skip_432686 | 4 | 154644551:154644610:154649358:154649513:154680948:154681025 | 154649358:154649513 | ENSG00000145428.10 | ENST00000508248.1 |
| exon_skip_432687 | 4 | 154644551:154644610:154666820:154666879:154669796:154669901 | 154666820:154666879 | ENSG00000145428.10 | ENST00000506505.1 |
| exon_skip_432690 | 4 | 154644551:154644610:154669796:154669938:154672589:154672599 | 154669796:154669938 | ENSG00000145428.10 | ENST00000503694.1,ENST00000274068.4 |
| exon_skip_432697 | 4 | 154649358:154649513:154666820:154666879:154669796:154669901 | 154666820:154666879 | ENSG00000145428.10 | ENST00000508967.1 |
| exon_skip_432700 | 4 | 154649358:154649513:154669796:154669938:154672589:154672599 | 154669796:154669938 | ENSG00000145428.10 | ENST00000347063.4 |
| exon_skip_432701 | 4 | 154649358:154649513:154669796:154669979:154672589:154672599 | 154669796:154669979 | ENSG00000145428.10 | ENST00000507512.1 |
| exon_skip_432702 | 4 | 154649358:154649513:154672589:154672627:154680948:154681025 | 154672589:154672627 | ENSG00000145428.10 | ENST00000513656.1 |
| exon_skip_432706 | 4 | 154666820:154666879:154669796:154669979:154672589:154672599 | 154669796:154669979 | ENSG00000145428.10 | ENST00000506505.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RNF175 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432680 | 4 | 154631276:154631641:154633626:154633728:154636680:154636814 | 154633626:154633728 | ENSG00000145428.10 | ENST00000347063.4 |
| exon_skip_432683 | 4 | 154644551:154644610:154649358:154649513:154666820:154666879 | 154649358:154649513 | ENSG00000145428.10 | ENST00000508967.1 |
| exon_skip_432684 | 4 | 154644551:154644610:154649358:154649513:154669796:154669901 | 154649358:154649513 | ENSG00000145428.10 | ENST00000347063.4,ENST00000507512.1 |
| exon_skip_432685 | 4 | 154644551:154644610:154649358:154649513:154672589:154672599 | 154649358:154649513 | ENSG00000145428.10 | ENST00000513656.1 |
| exon_skip_432686 | 4 | 154644551:154644610:154649358:154649513:154680948:154681025 | 154649358:154649513 | ENSG00000145428.10 | ENST00000508248.1 |
| exon_skip_432687 | 4 | 154644551:154644610:154666820:154666879:154669796:154669901 | 154666820:154666879 | ENSG00000145428.10 | ENST00000506505.1 |
| exon_skip_432690 | 4 | 154644551:154644610:154669796:154669938:154672589:154672599 | 154669796:154669938 | ENSG00000145428.10 | ENST00000503694.1,ENST00000274068.4 |
| exon_skip_432697 | 4 | 154649358:154649513:154666820:154666879:154669796:154669901 | 154666820:154666879 | ENSG00000145428.10 | ENST00000508967.1 |
| exon_skip_432700 | 4 | 154649358:154649513:154669796:154669938:154672589:154672599 | 154669796:154669938 | ENSG00000145428.10 | ENST00000347063.4 |
| exon_skip_432701 | 4 | 154649358:154649513:154669796:154669979:154672589:154672599 | 154669796:154669979 | ENSG00000145428.10 | ENST00000507512.1 |
| exon_skip_432702 | 4 | 154649358:154649513:154672589:154672627:154680948:154681025 | 154672589:154672627 | ENSG00000145428.10 | ENST00000513656.1 |
| exon_skip_432706 | 4 | 154666820:154666879:154669796:154669979:154672589:154672599 | 154669796:154669979 | ENSG00000145428.10 | ENST00000506505.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RNF175 |
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 |
| ENST00000347063 | 154649358 | 154649513 | Frame-shift |
| ENST00000347063 | 154669796 | 154669938 | Frame-shift |
| ENST00000347063 | 154633626 | 154633728 | 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 |
| ENST00000347063 | 154649358 | 154649513 | Frame-shift |
| ENST00000347063 | 154669796 | 154669938 | Frame-shift |
| ENST00000347063 | 154633626 | 154633728 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RNF175 |
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 |
| ENST00000347063 | 1621 | 328 | 154633626 | 154633728 | 1138 | 1239 | 255 | 288 |
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 |
| ENST00000347063 | 1621 | 328 | 154633626 | 154633728 | 1138 | 1239 | 255 | 288 |
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 |
| Q8N4F7 | 255 | 288 | 256 | 309 | Alternative sequence | ID=VSP_055435;Note=In isoform 2. FHEFCIRGWCIVGKKQTCPYCKEKVDLKRMISNPWERTHFLYGQILDWLRYLVA->YPFQRKLFGLHQASFFPPSPPPPPVPISSILLTFHAQTPVLYPPAQSSLPVCPC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N4F7 | 255 | 288 | 1 | 328 | Chain | ID=PRO_0000245599;Note=RING finger protein 175 |
| Q8N4F7 | 255 | 288 | 227 | 277 | Zinc finger | Note=RING-type%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 |
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 |
| Q8N4F7 | 255 | 288 | 256 | 309 | Alternative sequence | ID=VSP_055435;Note=In isoform 2. FHEFCIRGWCIVGKKQTCPYCKEKVDLKRMISNPWERTHFLYGQILDWLRYLVA->YPFQRKLFGLHQASFFPPSPPPPPVPISSILLTFHAQTPVLYPPAQSSLPVCPC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N4F7 | 255 | 288 | 1 | 328 | Chain | ID=PRO_0000245599;Note=RING finger protein 175 |
| Q8N4F7 | 255 | 288 | 227 | 277 | Zinc finger | Note=RING-type%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 |
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SNVs in the skipped exons for RNF175 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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-A39Y-01 | exon_skip_432683 exon_skip_432686 exon_skip_432684 exon_skip_432685 | 154649359 | 154649513 | 154649378 | 154649378 | Frame_Shift_Del | G | - | p.L128fs |
| SKCM | TCGA-EE-A2MS-06 | exon_skip_432683 exon_skip_432686 exon_skip_432684 exon_skip_432685 | 154649359 | 154649513 | 154649461 | 154649461 | Frame_Shift_Del | A | - | p.L100fs |
| STAD | TCGA-HU-A4G2-01 | exon_skip_432680 | 154633627 | 154633728 | 154633709 | 154633709 | Nonsense_Mutation | G | A | p.R262* |
| SKCM | TCGA-EE-A29E-06 | exon_skip_432683 exon_skip_432686 exon_skip_432684 exon_skip_432685 | 154649359 | 154649513 | 154649452 | 154649452 | Nonsense_Mutation | C | T | p.W103* |
| SKCM | TCGA-EE-A29E-06 | exon_skip_432683 exon_skip_432686 exon_skip_432684 exon_skip_432685 | 154649359 | 154649513 | 154649452 | 154649452 | Nonsense_Mutation | C | T | p.W103X |
| BLCA | TCGA-4Z-AA84-01 | exon_skip_432700 exon_skip_432690 | 154669797 | 154669938 | 154669824 | 154669824 | Nonsense_Mutation | C | T | p.W73* |
| BLCA | TCGA-4Z-AA84-01 | exon_skip_432701 exon_skip_432706 | 154669797 | 154669979 | 154669824 | 154669824 | Nonsense_Mutation | C | T | p.W73* |
- 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 | 154649359 | 154649513 | 154649371 | 154649371 | Missense_Mutation | C | T | p.G130E |
| OC314_OVARY | 154649359 | 154649513 | 154649371 | 154649371 | Missense_Mutation | C | T | p.G130E |
| KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154649359 | 154649513 | 154649449 | 154649449 | Missense_Mutation | C | T | p.R104Q |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 154649359 | 154649513 | 154649449 | 154649449 | Missense_Mutation | C | T | p.R104Q |
| SNU1040_LARGE_INTESTINE | 154649359 | 154649513 | 154649450 | 154649450 | Missense_Mutation | G | A | p.R104W |
| JHOS3_OVARY | 154649359 | 154649513 | 154649477 | 154649477 | Missense_Mutation | A | G | p.Y95H |
| SNU283_LARGE_INTESTINE | 154669797 | 154669979 | 154669907 | 154669907 | Missense_Mutation | G | A | p.R46W |
| SNU283_LARGE_INTESTINE | 154669797 | 154669938 | 154669907 | 154669907 | Missense_Mutation | G | A | p.R46W |
| COLO741_SKIN | 154672590 | 154672627 | 154672608 | 154672608 | Missense_Mutation | G | A | p.S29F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RNF175 |
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 RNF175 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RNF175 |
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RelatedDrugs for RNF175 |
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 RNF175 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |