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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | 3'-UTR located exon skipping events lost miRNA binding sites |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for RNASE1 |
Gene summary |
| Gene information | Gene symbol | RNASE1 | Gene ID | 6035 |
| Gene name | ribonuclease A family member 1, pancreatic | |
| Synonyms | RAC1|RIB1|RNS1 | |
| Cytomap | 14q11.2 | |
| Type of gene | protein-coding | |
| Description | ribonuclease pancreaticHP-RNaseRIB-1RNase 1RNase ARNase upI-1ribonuclease 1ribonuclease A C1ribonuclease, RNase A family, 1 (pancreatic) | |
| Modification date | 20200313 | |
| UniProtAcc | G3V357, P07998, | |
| Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| RNASE1 | GO:0051607 | defense response to virus | 9826755 |
| RNASE1 | GO:0090501 | RNA phosphodiester bond hydrolysis | 9826755 |
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Gene structures and expression levels for RNASE1 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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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Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RNASE1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_139218 | chr14 | 20801460:20802093:20802249:20802319:20802797:20802844 | 20802249:20802319 |
| exon_skip_143174 | chr14 | 20801460:20802093:20802249:20802331:20802797:20802844 | 20802249:20802331 |
| exon_skip_201710 | chr14 | 20802062:20802093:20802249:20802319:20802797:20802844 | 20802249:20802319 |
| exon_skip_3326 | chr14 | 20802062:20802093:20802249:20802331:20802797:20802844 | 20802249:20802331 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for RNASE1 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000340900 | 20802249 | 20802319 | 3UTR-3UTR |
| ENST00000397970 | 20802249 | 20802331 | 3UTR-3UTR |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000340900 | 20802249 | 20802319 | 3UTR-3UTR |
| ENST00000397970 | 20802249 | 20802331 | 3UTR-3UTR |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000340900 | 20802249 | 20802319 | 3UTR-3UTR |
| ENST00000397970 | 20802249 | 20802331 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for RNASE1 |
p-ENSG00000129538_img4.png![]() |
Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
| 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 MSBB. |
| 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 Mayo. |
| 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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3'-UTR located exon skipping events that lost miRNA binding sites in RNASE1 |
3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000397970 | 20802249 | 20802331 | hsa-miR-370-5p | chr14:20802315-20802322 | 8mer-1a | chr14:20802302-20802322 | 148.00 | -14.94 |
| Mayo | ENST00000340900 | 20802249 | 20802319 | hsa-miR-5192 | chr14:20802280-20802287 | 8mer-1a | chr14:20802266-20802287 | 150.00 | -21.04 |
| Mayo | ENST00000397970 | 20802249 | 20802331 | hsa-miR-5192 | chr14:20802280-20802287 | 8mer-1a | chr14:20802266-20802287 | 150.00 | -21.04 |
| Mayo | ENST00000340900 | 20802249 | 20802319 | hsa-miR-12131 | chr14:20802282-20802289 | 8mer-1a | chr14:20802280-20802302 | 149.00 | -16.74 |
| Mayo | ENST00000397970 | 20802249 | 20802331 | hsa-miR-12131 | chr14:20802282-20802289 | 8mer-1a | chr14:20802280-20802302 | 149.00 | -16.74 |
| MSBB | ENST00000397970 | 20802249 | 20802331 | hsa-miR-370-5p | chr14:20802315-20802322 | 8mer-1a | chr14:20802302-20802322 | 148.00 | -14.94 |
| MSBB | ENST00000340900 | 20802249 | 20802319 | hsa-miR-5192 | chr14:20802280-20802287 | 8mer-1a | chr14:20802266-20802287 | 150.00 | -21.04 |
| MSBB | ENST00000397970 | 20802249 | 20802331 | hsa-miR-5192 | chr14:20802280-20802287 | 8mer-1a | chr14:20802266-20802287 | 150.00 | -21.04 |
| MSBB | ENST00000340900 | 20802249 | 20802319 | hsa-miR-12131 | chr14:20802282-20802289 | 8mer-1a | chr14:20802280-20802302 | 149.00 | -16.74 |
| MSBB | ENST00000397970 | 20802249 | 20802331 | hsa-miR-12131 | chr14:20802282-20802289 | 8mer-1a | chr14:20802280-20802302 | 149.00 | -16.74 |
| ROSMAP | ENST00000397970 | 20802249 | 20802331 | hsa-miR-370-5p | chr14:20802315-20802322 | 8mer-1a | chr14:20802302-20802322 | 148.00 | -14.94 |
| ROSMAP | ENST00000340900 | 20802249 | 20802319 | hsa-miR-5192 | chr14:20802280-20802287 | 8mer-1a | chr14:20802266-20802287 | 150.00 | -21.04 |
| ROSMAP | ENST00000397970 | 20802249 | 20802331 | hsa-miR-5192 | chr14:20802280-20802287 | 8mer-1a | chr14:20802266-20802287 | 150.00 | -21.04 |
| ROSMAP | ENST00000340900 | 20802249 | 20802319 | hsa-miR-12131 | chr14:20802282-20802289 | 8mer-1a | chr14:20802280-20802302 | 149.00 | -16.74 |
| ROSMAP | ENST00000397970 | 20802249 | 20802331 | hsa-miR-12131 | chr14:20802282-20802289 | 8mer-1a | chr14:20802280-20802302 | 149.00 | -16.74 |
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SNVs in the skipped exons for RNASE1 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for RNASE1 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RNASE1 |
sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_139218 | rs4982372 | chr14:20850755 | 1.744665e-04 | 1.454562e-02 |
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Correlation with RNA binding proteins (RBPs) for RNASE1 |
Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_139218 | 4.194591e-01 | 4.116158e-08 |
| CB | TRA2A | exon_skip_139218 | 4.446400e-01 | 4.833056e-09 |
| CB | HNRNPA2B1 | exon_skip_139218 | 4.556949e-01 | 1.783513e-09 |
| TC | SRSF2 | exon_skip_201710 | -4.000669e-01 | 1.593768e-07 |
| TC | NOVA1 | exon_skip_201710 | -5.215014e-01 | 1.540877e-12 |
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RelatedDrugs for RNASE1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P07998 | approved|investigational | DB02325 | Isopropyl alcohol | small molecule | P07998 |
| P07998 | approved|nutraceutical|vet_approved | DB04272 | Citric Acid | small molecule | P07998 |
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RelatedDiseases for RNASE1 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |