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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 RPP40 |
 Gene summary |
| Gene information | Gene symbol | RPP40 | Gene ID | 10799 |
| Gene name | ribonuclease P/MRP subunit p40 | |
| Synonyms | RNASEP1|bA428J1.3 | |
| Cytomap | 6p25.1 | |
| Type of gene | protein-coding | |
| Description | ribonuclease P protein subunit p40RNase P subunit 1RNaseP protein p40ribonuclease P (40 kD)ribonuclease P, 40kD subunitribonuclease P/MRP 40kDa subunitribonuclease P1 | |
| Modification date | 20180522 | |
| UniProtAcc | O75818 | |
| Context | PubMed: RPP40 [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 RPP40 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 RPP40 |
| 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 RPP40 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455967 | 6 | 4996455:4996654:4998949:4999075:5000042:5000138 | 4998949:4999075 | ENSG00000124787.9 | ENST00000380051.2,ENST00000464646.1,ENST00000319533.5 |
| exon_skip_455968 | 6 | 5000042:5000138:5000796:5000865:5002334:5002479 | 5000796:5000865 | ENSG00000124787.9 | ENST00000468105.1,ENST00000380051.2,ENST00000464646.1 |
| exon_skip_455969 | 6 | 5000796:5000865:5001327:5001364:5002334:5002479 | 5001327:5001364 | ENSG00000124787.9 | ENST00000479782.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RPP40 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455967 | 6 | 4996455:4996654:4998949:4999075:5000042:5000138 | 4998949:4999075 | ENSG00000124787.9 | ENST00000380051.2,ENST00000319533.5,ENST00000464646.1 |
| exon_skip_455968 | 6 | 5000042:5000138:5000796:5000865:5002334:5002479 | 5000796:5000865 | ENSG00000124787.9 | ENST00000380051.2,ENST00000464646.1,ENST00000468105.1 |
| exon_skip_455969 | 6 | 5000796:5000865:5001327:5001364:5002334:5002479 | 5001327:5001364 | ENSG00000124787.9 | ENST00000479782.1 |
| 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 RPP40 |
| 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 |
| ENST00000380051 | 4998949 | 4999075 | In-frame |
| ENST00000380051 | 5000796 | 5000865 | 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 |
| ENST00000380051 | 4998949 | 4999075 | In-frame |
| ENST00000380051 | 5000796 | 5000865 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RPP40 |
| 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 |
| ENST00000380051 | 1500 | 363 | 5000796 | 5000865 | 314 | 382 | 89 | 112 |
| ENST00000380051 | 1500 | 363 | 4998949 | 4999075 | 479 | 604 | 144 | 186 |
| 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 |
| ENST00000380051 | 1500 | 363 | 5000796 | 5000865 | 314 | 382 | 89 | 112 |
| ENST00000380051 | 1500 | 363 | 4998949 | 4999075 | 479 | 604 | 144 | 186 |
| 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 |
| O75818 | 89 | 112 | 90 | 112 | Alternative sequence | ID=VSP_037346;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O75818 | 89 | 112 | 1 | 363 | Chain | ID=PRO_0000097434;Note=Ribonuclease P protein subunit p40 |
| O75818 | 144 | 186 | 1 | 363 | Chain | ID=PRO_0000097434;Note=Ribonuclease P protein subunit p40 |
| 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 |
| O75818 | 89 | 112 | 90 | 112 | Alternative sequence | ID=VSP_037346;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O75818 | 89 | 112 | 1 | 363 | Chain | ID=PRO_0000097434;Note=Ribonuclease P protein subunit p40 |
| O75818 | 144 | 186 | 1 | 363 | Chain | ID=PRO_0000097434;Note=Ribonuclease P protein subunit p40 |
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SNVs in the skipped exons for RPP40 |
| - 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-G3-A3CJ-01 | exon_skip_455967 | 4998950 | 4999075 | 4998967 | 4998967 | Frame_Shift_Del | A | - | p.L181fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_455968 | 5000797 | 5000865 | 5000809 | 5000809 | Frame_Shift_Del | G | - | p.L110fs |
| HNSC | TCGA-CR-6487-01 | exon_skip_455967 | 4998950 | 4999075 | 4998960 | 4998960 | Nonsense_Mutation | C | T | p.W183* |
| OV | TCGA-24-1417-01 | exon_skip_455967 | 4998950 | 4999075 | 4999008 | 4999008 | Nonsense_Mutation | C | T | p.W167* |
| - 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 |
| SW684_SOFT_TISSUE | 4998950 | 4999075 | 4999006 | 4999006 | Missense_Mutation | G | A | p.S168F |
| HCC15_LUNG | 4998950 | 4999075 | 4999059 | 4999059 | Missense_Mutation | C | A | p.L150F |
| KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5000797 | 5000865 | 5000817 | 5000817 | Missense_Mutation | G | A | p.T106I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPP40 |
| 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 RPP40 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPP40 |
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RelatedDrugs for RPP40 |
| 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 RPP40 |
| 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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