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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 LONRF1 |
 Gene summary |
| Gene information | Gene symbol | LONRF1 | Gene ID | 91694 |
| Gene name | LON peptidase N-terminal domain and ring finger 1 | |
| Synonyms | RNF191 | |
| Cytomap | 8p23.1 | |
| Type of gene | protein-coding | |
| Description | LON peptidase N-terminal domain and RING finger protein 1RING finger protein 191 | |
| Modification date | 20180523 | |
| UniProtAcc | Q17RB8 | |
| Context | PubMed: LONRF1 [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 LONRF1 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 LONRF1 |
| 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 LONRF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488319 | 8 | 12580489:12580763:12583235:12583388:12586409:12586572 | 12583235:12583388 | ENSG00000154359.8 | ENST00000525024.1,ENST00000524526.2,ENST00000533751.1,ENST00000398246.3,ENST00000526680.1 |
| exon_skip_488321 | 8 | 12586682:12586841:12589244:12589366:12592794:12592909 | 12589244:12589366 | ENSG00000154359.8 | ENST00000524526.2,ENST00000533751.1,ENST00000398246.3,ENST00000526610.1,ENST00000526680.1 |
| exon_skip_488322 | 8 | 12594408:12594649:12594780:12594869:12595503:12595653 | 12594780:12594869 | ENSG00000154359.8 | ENST00000534446.1,ENST00000526680.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LONRF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488319 | 8 | 12580489:12580763:12583235:12583388:12586409:12586572 | 12583235:12583388 | ENSG00000154359.8 | ENST00000398246.3,ENST00000526680.1,ENST00000525024.1,ENST00000533751.1,ENST00000524526.2 |
| exon_skip_488321 | 8 | 12586682:12586841:12589244:12589366:12592794:12592909 | 12589244:12589366 | ENSG00000154359.8 | ENST00000398246.3,ENST00000526680.1,ENST00000533751.1,ENST00000524526.2,ENST00000526610.1 |
| exon_skip_488322 | 8 | 12594408:12594649:12594780:12594869:12595503:12595653 | 12594780:12594869 | ENSG00000154359.8 | ENST00000526680.1,ENST00000534446.1 |
| 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 LONRF1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for LONRF1 |
| 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 LONRF1 |
| - 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-A3A0-01 | exon_skip_488321 | 12589245 | 12589366 | 12589276 | 12589276 | Frame_Shift_Del | T | - | p.I553fs |
| LIHC | TCGA-EP-A26S-01 | exon_skip_488321 | 12589245 | 12589366 | 12589276 | 12589276 | Frame_Shift_Del | T | - | p.I553fs |
| LUSC | TCGA-66-2785-01 | exon_skip_488319 | 12583236 | 12583388 | 12583331 | 12583331 | Nonsense_Mutation | G | A | p.Q690* |
| BLCA | TCGA-E5-A4U1-01 | exon_skip_488319 | 12583236 | 12583388 | 12583373 | 12583373 | Nonsense_Mutation | C | A | p.E676* |
| LIHC | TCGA-DD-AACJ-01 | exon_skip_488321 | 12589245 | 12589366 | 12589255 | 12589255 | Nonsense_Mutation | C | A | p.E560X |
| - 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 |
| MDAPCA2B_PROSTATE | 12589245 | 12589366 | 12589275 | 12589276 | Frame_Shift_Ins | - | T | p.I553fs |
| IGROV1_OVARY | 12589245 | 12589366 | 12589275 | 12589276 | Frame_Shift_Ins | - | T | p.I553fs |
| LS513_LARGE_INTESTINE | 12589245 | 12589366 | 12589275 | 12589276 | Frame_Shift_Ins | - | T | p.I553fs |
| LU99_LUNG | 12589245 | 12589366 | 12589275 | 12589276 | Frame_Shift_Ins | - | T | p.I553fs |
| RKN_SOFT_TISSUE | 12589245 | 12589366 | 12589275 | 12589276 | Frame_Shift_Ins | - | T | p.I553fs |
| SW780_URINARY_TRACT | 12589245 | 12589366 | 12589275 | 12589276 | Frame_Shift_Ins | - | T | p.I553fs |
| HCT15_LARGE_INTESTINE | 12583236 | 12583388 | 12583328 | 12583328 | Missense_Mutation | C | A | p.A691S |
| TE14_OESOPHAGUS | 12583236 | 12583388 | 12583379 | 12583379 | Missense_Mutation | C | T | p.E674K |
| HEC251_ENDOMETRIUM | 12589245 | 12589366 | 12589284 | 12589284 | Missense_Mutation | C | A | p.R550I |
| HEC251_ENDOMETRIUM | 12583236 | 12583388 | 12583292 | 12583292 | Nonsense_Mutation | G | A | p.R703* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LONRF1 |
| 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 LONRF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LONRF1 |
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RelatedDrugs for LONRF1 |
| 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 LONRF1 |
| 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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