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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 REN |
 Gene summary |
| Gene information | Gene symbol | REN | Gene ID | 5972 |
| Gene name | renin | |
| Synonyms | HNFJ2 | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | reninangiotensin-forming enzymeangiotensinogenaserenin precursor, renal | |
| Modification date | 20180523 | |
| UniProtAcc | Q693B1 | |
| Context | PubMed: REN [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 |
| REN | GO:0002003 | angiotensin maturation | 12045255 |
| REN | GO:0006508 | proteolysis | 12045255 |
| REN | GO:0043408 | regulation of MAPK cascade | 12045255 |
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Exon skipping events across known transcript of Ensembl for REN 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 REN |
| 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 REN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35899 | 1 | 204123946:204124305:204124947:204125046:204125305:204125367 | 204124947:204125046 | ENSG00000143839.12 | ENST00000367195.2,ENST00000272190.8 |
| exon_skip_35902 | 1 | 204125305:204125447:204125804:204125924:204128526:204128723 | 204125804:204125924 | ENSG00000143839.12 | ENST00000367195.2 |
| exon_skip_35905 | 1 | 204125804:204125924:204126488:204126497:204128526:204128612 | 204126488:204126497 | ENSG00000143839.12 | ENST00000272190.8 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for REN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35899 | 1 | 204123946:204124305:204124947:204125046:204125305:204125367 | 204124947:204125046 | ENSG00000143839.12 | ENST00000367195.2,ENST00000272190.8 |
| exon_skip_35902 | 1 | 204125305:204125447:204125804:204125924:204128526:204128723 | 204125804:204125924 | ENSG00000143839.12 | ENST00000367195.2 |
| exon_skip_35905 | 1 | 204125804:204125924:204126488:204126497:204128526:204128612 | 204126488:204126497 | ENSG00000143839.12 | ENST00000272190.8 |
| 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 REN |
| 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 |
| ENST00000272190 | 204124947 | 204125046 | In-frame |
| ENST00000272190 | 204126488 | 204126497 | 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 |
| ENST00000272190 | 204124947 | 204125046 | In-frame |
| ENST00000272190 | 204126488 | 204126497 | In-frame |
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Infer the effects of exon skipping event on protein functional features for REN |
| 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 |
| ENST00000272190 | 1464 | 406 | 204124947 | 204125046 | 990 | 1088 | 320 | 353 |
| 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 |
| ENST00000272190 | 1464 | 406 | 204124947 | 204125046 | 990 | 1088 | 320 | 353 |
| 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 |
| P00797 | 320 | 353 | 318 | 320 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G27 |
| P00797 | 320 | 353 | 321 | 324 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 334 | 338 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 341 | 345 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 67 | 406 | Chain | ID=PRO_0000026082;Note=Renin |
| P00797 | 320 | 353 | 325 | 362 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20927107;Dbxref=PMID:20927107 |
| P00797 | 320 | 353 | 86 | 403 | Domain | Note=Peptidase A1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01103 |
| P00797 | 320 | 353 | 325 | 330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 347 | 350 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 351 | 351 | Sequence conflict | Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P00797 | 320 | 353 | 318 | 320 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G27 |
| P00797 | 320 | 353 | 321 | 324 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 334 | 338 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 341 | 345 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 67 | 406 | Chain | ID=PRO_0000026082;Note=Renin |
| P00797 | 320 | 353 | 325 | 362 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20927107;Dbxref=PMID:20927107 |
| P00797 | 320 | 353 | 86 | 403 | Domain | Note=Peptidase A1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01103 |
| P00797 | 320 | 353 | 325 | 330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 347 | 350 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3K1W |
| P00797 | 320 | 353 | 351 | 351 | Sequence conflict | Note=V->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for REN |
| - 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 |
| STAD | TCGA-HU-A4GX-01 | exon_skip_35899 | 204124948 | 204125046 | 204124957 | 204124958 | Frame_Shift_Del | AT | - | p.350_351del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35899 | 204124948 | 204125046 | 204124984 | 204124984 | Frame_Shift_Del | T | - | p.K338fs |
| HNSC | TCGA-CX-7086-01 | exon_skip_35899 | 204124948 | 204125046 | 204124947 | 204124947 | Splice_Site | C | A | p.Q353_splice |
| - 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 |
| HEC59_ENDOMETRIUM | 204125805 | 204125924 | 204125862 | 204125862 | Missense_Mutation | C | A | p.G254V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for REN |
| 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 REN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for REN |
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RelatedDrugs for REN |
| 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 REN |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| REN | C0020538 | Hypertensive disease | 17 | CTD_human |
| REN | C0011570 | Mental Depression | 5 | PSYGENET |
| REN | C0011581 | Depressive disorder | 5 | PSYGENET |
| REN | C0004775 | Bartter Disease | 3 | CTD_human |
| REN | C0018801 | Heart failure | 3 | CTD_human |
| REN | C0020649 | Hypotension | 3 | CTD_human;HPO |
| REN | C0022658 | Kidney Diseases | 3 | CTD_human |
| REN | C0041696 | Unipolar Depression | 3 | PSYGENET |
| REN | C0001925 | Albuminuria | 2 | CTD_human |
| REN | C0001969 | Alcoholic Intoxication | 2 | PSYGENET |
| REN | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
| REN | C0018800 | Cardiomegaly | 2 | CTD_human |
| REN | C0027720 | Nephrosis | 2 | CTD_human |
| REN | C0033687 | Proteinuria | 2 | CTD_human |
| REN | C0149721 | Left Ventricular Hypertrophy | 2 | CTD_human |
| REN | C0002871 | Anemia | 1 | CTD_human;HPO |
| REN | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| REN | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| REN | C0015934 | Fetal Growth Retardation | 1 | CTD_human |
| REN | C0016059 | Fibrosis | 1 | CTD_human |
| REN | C0019080 | Hemorrhage | 1 | CTD_human |
| REN | C0020540 | Malignant Hypertension | 1 | CTD_human |
| REN | C0022116 | Ischemia | 1 | CTD_human |
| REN | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| REN | C0027051 | Myocardial Infarction | 1 | CTD_human |
| REN | C0029456 | Osteoporosis | 1 | CTD_human |
| REN | C0033860 | Psoriasis | 1 | CTD_human |
| REN | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| REN | C0041755 | Adverse reaction to drug | 1 | CTD_human |
| REN | C0221043 | Liddle Syndrome | 1 | CTD_human |
| REN | C0242528 | Azotemia | 1 | CTD_human |
| REN | C0266313 | Allanson Pantzar McLeod syndrome | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
| REN | C2751310 | Hyperuricemic Nephropathy, Familial Juvenile 2 | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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