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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 RNF180 |
 Gene summary |
| Gene information | Gene symbol | RNF180 | Gene ID | 285671 |
| Gene name | ring finger protein 180 | |
| Synonyms | RINES | |
| Cytomap | 5q12.3 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF180RING-type E3 ubiquitin transferase RNF180 | |
| Modification date | 20180523 | |
| UniProtAcc | Q86T96 | |
| Context | PubMed: RNF180 [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 RNF180 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 RNF180 |
| 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 RNF180 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434971 | 5 | 63461708:63461780:63496634:63496769:63507891:63507987 | 63496634:63496769 | ENSG00000164197.7 | ENST00000389100.4,ENST00000381081.2 |
| exon_skip_434972 | 5 | 63507891:63507987:63509384:63510344:63513187:63513223 | 63509384:63510344 | ENSG00000164197.7 | ENST00000389100.4,ENST00000296615.6 |
| exon_skip_434974 | 5 | 63509384:63510344:63513187:63513223:63621012:63621238 | 63513187:63513223 | ENSG00000164197.7 | ENST00000389100.4 |
| exon_skip_434976 | 5 | 63513187:63513223:63621012:63621238:63626107:63626233 | 63621012:63621238 | ENSG00000164197.7 | ENST00000389100.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RNF180 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434971 | 5 | 63461708:63461780:63496634:63496769:63507891:63507987 | 63496634:63496769 | ENSG00000164197.7 | ENST00000381081.2,ENST00000389100.4 |
| exon_skip_434972 | 5 | 63507891:63507987:63509384:63510344:63513187:63513223 | 63509384:63510344 | ENSG00000164197.7 | ENST00000296615.6,ENST00000389100.4 |
| exon_skip_434974 | 5 | 63509384:63510344:63513187:63513223:63621012:63621238 | 63513187:63513223 | ENSG00000164197.7 | ENST00000389100.4 |
| exon_skip_434976 | 5 | 63513187:63513223:63621012:63621238:63626107:63626233 | 63621012:63621238 | ENSG00000164197.7 | ENST00000389100.4 |
| 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 RNF180 |
| 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 |
| ENST00000389100 | 63621012 | 63621238 | Frame-shift |
| ENST00000389100 | 63496634 | 63496769 | In-frame |
| ENST00000389100 | 63509384 | 63510344 | In-frame |
| ENST00000389100 | 63513187 | 63513223 | 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 |
| ENST00000389100 | 63621012 | 63621238 | Frame-shift |
| ENST00000389100 | 63496634 | 63496769 | In-frame |
| ENST00000389100 | 63509384 | 63510344 | In-frame |
| ENST00000389100 | 63513187 | 63513223 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RNF180 |
| 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 |
| ENST00000389100 | 4923 | 592 | 63496634 | 63496769 | 73 | 207 | 0 | 45 |
| ENST00000389100 | 4923 | 592 | 63509384 | 63510344 | 304 | 1263 | 77 | 397 |
| ENST00000389100 | 4923 | 592 | 63513187 | 63513223 | 1264 | 1299 | 397 | 409 |
| 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 |
| ENST00000389100 | 4923 | 592 | 63496634 | 63496769 | 73 | 207 | 0 | 45 |
| ENST00000389100 | 4923 | 592 | 63509384 | 63510344 | 304 | 1263 | 77 | 397 |
| ENST00000389100 | 4923 | 592 | 63513187 | 63513223 | 1264 | 1299 | 397 | 409 |
| 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 |
| Q86T96 | 0 | 45 | 1 | 592 | Chain | ID=PRO_0000261617;Note=E3 ubiquitin-protein ligase RNF180 |
| Q86T96 | 0 | 45 | 15 | 15 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86T96 | 0 | 45 | 18 | 22 | Sequence conflict | Note=SILRC->GETVFSL;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86T96 | 0 | 45 | 1 | 564 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86T96 | 77 | 397 | 78 | 397 | Alternative sequence | ID=VSP_021738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86T96 | 77 | 397 | 1 | 592 | Chain | ID=PRO_0000261617;Note=E3 ubiquitin-protein ligase RNF180 |
| Q86T96 | 77 | 397 | 230 | 230 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3U827 |
| Q86T96 | 77 | 397 | 281 | 489 | Region | Note=Interaction with ZIC2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q86T96 | 77 | 397 | 1 | 564 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86T96 | 397 | 409 | 78 | 397 | Alternative sequence | ID=VSP_021738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86T96 | 397 | 409 | 1 | 592 | Chain | ID=PRO_0000261617;Note=E3 ubiquitin-protein ligase RNF180 |
| Q86T96 | 397 | 409 | 281 | 489 | Region | Note=Interaction with ZIC2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q86T96 | 397 | 409 | 1 | 564 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q86T96 | 0 | 45 | 1 | 592 | Chain | ID=PRO_0000261617;Note=E3 ubiquitin-protein ligase RNF180 |
| Q86T96 | 0 | 45 | 15 | 15 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86T96 | 0 | 45 | 18 | 22 | Sequence conflict | Note=SILRC->GETVFSL;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86T96 | 0 | 45 | 1 | 564 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86T96 | 77 | 397 | 78 | 397 | Alternative sequence | ID=VSP_021738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86T96 | 77 | 397 | 1 | 592 | Chain | ID=PRO_0000261617;Note=E3 ubiquitin-protein ligase RNF180 |
| Q86T96 | 77 | 397 | 230 | 230 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3U827 |
| Q86T96 | 77 | 397 | 281 | 489 | Region | Note=Interaction with ZIC2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q86T96 | 77 | 397 | 1 | 564 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86T96 | 397 | 409 | 78 | 397 | Alternative sequence | ID=VSP_021738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86T96 | 397 | 409 | 1 | 592 | Chain | ID=PRO_0000261617;Note=E3 ubiquitin-protein ligase RNF180 |
| Q86T96 | 397 | 409 | 281 | 489 | Region | Note=Interaction with ZIC2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q86T96 | 397 | 409 | 1 | 564 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for RNF180 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434972 | 63509385 | 63510344 | 63509428 | 63509428 | Frame_Shift_Del | C | - | p.A92fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_434972 | 63509385 | 63510344 | 63509768 | 63509768 | Frame_Shift_Del | A | - | p.P205fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434972 | 63509385 | 63510344 | 63509787 | 63509787 | Frame_Shift_Del | C | - | p.P212fs |
| LGG | TCGA-DU-7018-01 | exon_skip_434972 | 63509385 | 63510344 | 63509839 | 63509840 | Frame_Shift_Del | AT | - | p.H229fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_434972 | 63509385 | 63510344 | 63509976 | 63509976 | Frame_Shift_Del | A | - | p.K275fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_434972 | 63509385 | 63510344 | 63510309 | 63510309 | Frame_Shift_Del | A | - | p.K386fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_434976 | 63621013 | 63621238 | 63621226 | 63621226 | Frame_Shift_Del | T | - | p.F482fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_434971 | 63496635 | 63496769 | 63496650 | 63496650 | Nonsense_Mutation | G | T | p.E6* |
| PAAD | TCGA-OE-A75W-01 | exon_skip_434972 | 63509385 | 63510344 | 63509712 | 63509712 | Nonsense_Mutation | C | T | p.R187* |
| COAD | TCGA-AA-3510-01 | exon_skip_434972 | 63509385 | 63510344 | 63509763 | 63509763 | Nonsense_Mutation | G | T | p.E204X |
| LUAD | TCGA-86-7954-01 | exon_skip_434972 | 63509385 | 63510344 | 63510244 | 63510244 | Nonsense_Mutation | C | A | p.S364* |
| CESC | TCGA-IR-A3LA-01 | exon_skip_434971 | 63496635 | 63496769 | 63496634 | 63496634 | Splice_Site | G | C | e1-1 |
| HNSC | TCGA-CN-6010-01 | exon_skip_434972 | 63509385 | 63510344 | 63509383 | 63509383 | Splice_Site | A | T | p.A78_splice |
| ESCA | TCGA-R6-A6L6-01 | exon_skip_434976 | 63621013 | 63621238 | 63621011 | 63621011 | Splice_Site | A | G | . |
| - 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 |
| HS751T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63496635 | 63496769 | 63496696 | 63496696 | Missense_Mutation | G | A | p.R21H |
| LNCAPCLONEFGC_PROSTATE | 63496635 | 63496769 | 63496722 | 63496722 | Missense_Mutation | G | A | p.A30T |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63496635 | 63496769 | 63496761 | 63496761 | Missense_Mutation | G | C | p.V43L |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63509385 | 63510344 | 63509394 | 63509394 | Missense_Mutation | A | G | p.T81A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 63509385 | 63510344 | 63509500 | 63509500 | Missense_Mutation | C | G | p.S116C |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63509385 | 63510344 | 63509500 | 63509500 | Missense_Mutation | C | G | p.S116C |
| HGC27_STOMACH | 63509385 | 63510344 | 63509572 | 63509572 | Missense_Mutation | A | T | p.H140L |
| MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63509385 | 63510344 | 63509662 | 63509662 | Missense_Mutation | G | A | p.R170Q |
| HT115_LARGE_INTESTINE | 63509385 | 63510344 | 63509662 | 63509662 | Missense_Mutation | G | T | p.R170L |
| TK10_KIDNEY | 63509385 | 63510344 | 63509662 | 63509662 | Missense_Mutation | G | A | p.R170Q |
| KYSE140_OESOPHAGUS | 63509385 | 63510344 | 63509676 | 63509676 | Missense_Mutation | C | T | p.P175S |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63509385 | 63510344 | 63509784 | 63509784 | Missense_Mutation | G | A | p.V211I |
| NCIH1573_LUNG | 63509385 | 63510344 | 63509791 | 63509791 | Missense_Mutation | A | T | p.Q213L |
| KURAMOCHI_OVARY | 63509385 | 63510344 | 63509946 | 63509946 | Missense_Mutation | G | T | p.D265Y |
| HCC2998_LARGE_INTESTINE | 63509385 | 63510344 | 63509958 | 63509958 | Missense_Mutation | T | G | p.L269V |
| OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63509385 | 63510344 | 63510012 | 63510012 | Missense_Mutation | G | A | p.D287N |
| TTC642_SOFT_TISSUE | 63509385 | 63510344 | 63510016 | 63510016 | Missense_Mutation | C | G | p.P288R |
| DETROIT562_UPPER_AERODIGESTIVE_TRACT | 63509385 | 63510344 | 63510062 | 63510062 | Missense_Mutation | G | C | p.Q303H |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63509385 | 63510344 | 63510062 | 63510062 | Missense_Mutation | G | C | p.Q303H |
| HT115_LARGE_INTESTINE | 63509385 | 63510344 | 63510078 | 63510078 | Missense_Mutation | G | A | p.E309K |
| NCIH1573_LUNG | 63509385 | 63510344 | 63510153 | 63510153 | Missense_Mutation | G | C | p.D334H |
| NCIH2172_LUNG | 63509385 | 63510344 | 63510229 | 63510229 | Missense_Mutation | A | T | p.H359L |
| SW1088_CENTRAL_NERVOUS_SYSTEM | 63509385 | 63510344 | 63510265 | 63510265 | Missense_Mutation | G | C | p.R371T |
| RO82W1_THYROID | 63621013 | 63621238 | 63621020 | 63621020 | Missense_Mutation | A | G | p.N412S |
| CALU3_LUNG | 63621013 | 63621238 | 63621027 | 63621027 | Missense_Mutation | G | T | p.E414D |
| SW684_SOFT_TISSUE | 63621013 | 63621238 | 63621167 | 63621167 | Missense_Mutation | C | T | p.A461V |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63621013 | 63621238 | 63621197 | 63621197 | Missense_Mutation | C | T | p.P471L |
| GP2D_LARGE_INTESTINE | 63621013 | 63621238 | 63621206 | 63621206 | Missense_Mutation | G | T | p.R474L |
| GP5D_LARGE_INTESTINE | 63621013 | 63621238 | 63621206 | 63621206 | Missense_Mutation | G | T | p.R474L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RNF180 |
| 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 RNF180 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RNF180 |
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RelatedDrugs for RNF180 |
| 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 RNF180 |
| 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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