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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 NPR1 |
 Gene summary |
| Gene information | Gene symbol | NPR1 | Gene ID | 4881 |
| Gene name | natriuretic peptide receptor 1 | |
| Synonyms | ANPRA|ANPa|GUC2A|GUCY2A|NPRA | |
| Cytomap | 1q21.3 | |
| Type of gene | protein-coding | |
| Description | atrial natriuretic peptide receptor 1ANP-AANPR-AGC-ANPR-Aatrial natriuretic peptide receptor type Aatrionatriuretic peptide receptor Aguanylate cyclase Anatriuretic peptide A type receptornatriuretic peptide receptor Anatriuretic peptide recepto | |
| Modification date | 20180523 | |
| UniProtAcc | P16066 | |
| Context | PubMed: NPR1 [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 |
| NPR1 | GO:0006182 | cGMP biosynthetic process | 1672777 |
| NPR1 | GO:0007168 | receptor guanylyl cyclase signaling pathway | 1672777 |
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Exon skipping events across known transcript of Ensembl for NPR1 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 NPR1 |
| 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 NPR1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_10600 | 1 | 153656215:153656300:153657439:153657560:153658281:153658356 | 153657439:153657560 | ENSG00000169418.9 | ENST00000368680.3 |
| exon_skip_10603 | 1 | 153658281:153658356:153658598:153658676:153659121:153659226 | 153658598:153658676 | ENSG00000169418.9 | ENST00000368680.3 |
| exon_skip_10604 | 1 | 153659491:153659563:153659675:153659832:153660109:153660265 | 153659675:153659832 | ENSG00000169418.9 | ENST00000368680.3 |
| exon_skip_10605 | 1 | 153660109:153660265:153660528:153660697:153661428:153661575 | 153660528:153660697 | ENSG00000169418.9 | ENST00000368680.3 |
| exon_skip_10610 | 1 | 153661663:153661787:153661928:153661997:153662281:153662456 | 153661928:153661997 | ENSG00000169418.9 | ENST00000368680.3,ENST00000368677.2 |
| exon_skip_10612 | 1 | 153662759:153662858:153665581:153665673:153665827:153666468 | 153665581:153665673 | ENSG00000169418.9 | ENST00000368680.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NPR1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_10600 | 1 | 153656215:153656300:153657439:153657560:153658281:153658356 | 153657439:153657560 | ENSG00000169418.9 | ENST00000368680.3 |
| exon_skip_10603 | 1 | 153658281:153658356:153658598:153658676:153659121:153659226 | 153658598:153658676 | ENSG00000169418.9 | ENST00000368680.3 |
| exon_skip_10604 | 1 | 153659491:153659563:153659675:153659832:153660109:153660265 | 153659675:153659832 | ENSG00000169418.9 | ENST00000368680.3 |
| exon_skip_10605 | 1 | 153660109:153660265:153660528:153660697:153661428:153661575 | 153660528:153660697 | ENSG00000169418.9 | ENST00000368680.3 |
| exon_skip_10610 | 1 | 153661663:153661787:153661928:153661997:153662281:153662456 | 153661928:153661997 | ENSG00000169418.9 | ENST00000368680.3,ENST00000368677.2 |
| exon_skip_10612 | 1 | 153662759:153662858:153665581:153665673:153665827:153666468 | 153665581:153665673 | ENSG00000169418.9 | ENST00000368680.3 |
| 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 NPR1 |
| 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 |
| ENST00000368680 | 153657439 | 153657560 | Frame-shift |
| ENST00000368680 | 153659675 | 153659832 | Frame-shift |
| ENST00000368680 | 153660528 | 153660697 | Frame-shift |
| ENST00000368680 | 153665581 | 153665673 | Frame-shift |
| ENST00000368680 | 153658598 | 153658676 | In-frame |
| ENST00000368680 | 153661928 | 153661997 | 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 |
| ENST00000368680 | 153657439 | 153657560 | Frame-shift |
| ENST00000368680 | 153659675 | 153659832 | Frame-shift |
| ENST00000368680 | 153660528 | 153660697 | Frame-shift |
| ENST00000368680 | 153665581 | 153665673 | Frame-shift |
| ENST00000368680 | 153658598 | 153658676 | In-frame |
| ENST00000368680 | 153661928 | 153661997 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NPR1 |
| 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 |
| ENST00000368680 | 4253 | 1061 | 153658598 | 153658676 | 2153 | 2230 | 560 | 586 |
| ENST00000368680 | 4253 | 1061 | 153661928 | 153661997 | 3161 | 3229 | 896 | 919 |
| 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 |
| ENST00000368680 | 4253 | 1061 | 153658598 | 153658676 | 2153 | 2230 | 560 | 586 |
| ENST00000368680 | 4253 | 1061 | 153661928 | 153661997 | 3161 | 3229 | 896 | 919 |
| 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 |
| P16066 | 560 | 586 | 33 | 1061 | Chain | ID=PRO_0000012360;Note=Atrial natriuretic peptide receptor 1 |
| P16066 | 560 | 586 | 528 | 805 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P16066 | 560 | 586 | 495 | 1061 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P16066 | 896 | 919 | 33 | 1061 | Chain | ID=PRO_0000012360;Note=Atrial natriuretic peptide receptor 1 |
| P16066 | 896 | 919 | 876 | 1006 | Domain | Note=Guanylate cyclase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00099 |
| P16066 | 896 | 919 | 495 | 1061 | 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 |
| P16066 | 560 | 586 | 33 | 1061 | Chain | ID=PRO_0000012360;Note=Atrial natriuretic peptide receptor 1 |
| P16066 | 560 | 586 | 528 | 805 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P16066 | 560 | 586 | 495 | 1061 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P16066 | 896 | 919 | 33 | 1061 | Chain | ID=PRO_0000012360;Note=Atrial natriuretic peptide receptor 1 |
| P16066 | 896 | 919 | 876 | 1006 | Domain | Note=Guanylate cyclase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00099 |
| P16066 | 896 | 919 | 495 | 1061 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for NPR1 |
| - 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-A39Y-01 | exon_skip_10604 | 153659676 | 153659832 | 153659697 | 153659697 | Frame_Shift_Del | G | - | p.G653fs |
| ESCA | TCGA-L5-A4OJ-01 | exon_skip_10604 | 153659676 | 153659832 | 153659784 | 153659784 | Nonsense_Mutation | G | T | p.E682* |
| ESCA | TCGA-L5-A4OJ-01 | exon_skip_10604 | 153659676 | 153659832 | 153659784 | 153659784 | Nonsense_Mutation | G | T | p.E682X |
| SKCM | TCGA-EE-A29R-06 | exon_skip_10612 | 153665582 | 153665673 | 153665653 | 153665653 | Nonsense_Mutation | C | T | p.R1035* |
| SKCM | TCGA-EE-A29R-06 | exon_skip_10612 | 153665582 | 153665673 | 153665653 | 153665653 | Nonsense_Mutation | C | T | p.R1035X |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_10612 | 153665582 | 153665673 | 153665653 | 153665653 | Nonsense_Mutation | C | T | p.R1035* |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_10612 | 153665582 | 153665673 | 153665653 | 153665653 | Nonsense_Mutation | C | T | p.R1035X |
| SKCM | TCGA-FS-A1ZD-06 | exon_skip_10612 | 153665582 | 153665673 | 153665653 | 153665653 | Nonsense_Mutation | C | T | p.R1035* |
| SKCM | TCGA-FS-A1ZD-06 | exon_skip_10612 | 153665582 | 153665673 | 153665653 | 153665653 | Nonsense_Mutation | C | T | p.R1035X |
| UCEC | TCGA-B5-A11N-01 | exon_skip_10612 | 153665582 | 153665673 | 153665653 | 153665653 | Nonsense_Mutation | C | T | p.R1035* |
| - 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 |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153665582 | 153665673 | 153665595 | 153665596 | Frame_Shift_Ins | - | T | p.L1016fs |
| CAL72_BONE | 153657440 | 153657560 | 153657511 | 153657511 | Missense_Mutation | G | C | p.S519T |
| HT115_LARGE_INTESTINE | 153658599 | 153658676 | 153658630 | 153658630 | Missense_Mutation | G | A | p.R571H |
| HEC151_ENDOMETRIUM | 153658599 | 153658676 | 153658636 | 153658636 | Missense_Mutation | G | A | p.R573H |
| SNU81_LARGE_INTESTINE | 153658599 | 153658676 | 153658651 | 153658651 | Missense_Mutation | G | A | p.R578Q |
| HS766T_PANCREAS | 153660529 | 153660697 | 153660559 | 153660559 | Missense_Mutation | A | G | p.Q760R |
| SKUT1_SOFT_TISSUE | 153660529 | 153660697 | 153660571 | 153660571 | Missense_Mutation | G | A | p.R764Q |
| MCC26_SKIN | 153660529 | 153660697 | 153660577 | 153660577 | Missense_Mutation | C | T | p.S766F |
| NCIH196_LUNG | 153660529 | 153660697 | 153660590 | 153660590 | Missense_Mutation | G | C | p.Q770H |
| JEG3_PLACENTA | 153660529 | 153660697 | 153660595 | 153660595 | Missense_Mutation | A | G | p.H772R |
| AGS_STOMACH | 153661929 | 153661997 | 153661963 | 153661963 | Missense_Mutation | T | G | p.F908C |
| SNU407_LARGE_INTESTINE | 153665582 | 153665673 | 153665585 | 153665585 | Missense_Mutation | T | C | p.L1012P |
| NCIH1417_LUNG | 153665582 | 153665673 | 153665591 | 153665591 | Missense_Mutation | T | C | p.I1014T |
| SW684_SOFT_TISSUE | 153665582 | 153665673 | 153665593 | 153665593 | Missense_Mutation | C | T | p.H1015Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NPR1 |
| 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 NPR1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NPR1 |
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RelatedDrugs for NPR1 |
| 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 |
| P16066 | DB01612 | Amyl Nitrite | Atrial natriuretic peptide receptor 1 | small molecule | approved | |
| P16066 | DB01613 | Erythrityl tetranitrate | Atrial natriuretic peptide receptor 1 | small molecule | approved|experimental|investigational | |
| P16066 | DB00325 | Nitroprusside | Atrial natriuretic peptide receptor 1 | small molecule | approved|investigational | |
| P16066 | DB00727 | Nitroglycerin | Atrial natriuretic peptide receptor 1 | small molecule | approved|investigational | |
| P16066 | DB00883 | Isosorbide dinitrate | Atrial natriuretic peptide receptor 1 | small molecule | approved|investigational | |
| P16066 | DB04899 | Nesiritide | Atrial natriuretic peptide receptor 1 | biotech | approved|investigational |
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RelatedDiseases for NPR1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NPR1 | C0016059 | Fibrosis | 1 | CTD_human |
| NPR1 | C0018800 | Cardiomegaly | 1 | CTD_human |
| NPR1 | C0018801 | Heart failure | 1 | CTD_human |
| NPR1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| NPR1 | C0022658 | Kidney Diseases | 1 | CTD_human |
| NPR1 | C0236664 | Alcohol-Related Disorders | 1 | PSYGENET |
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