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mutLBSgeneDB |
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| Gene summary for RNASE3 |
 Gene summary |
| Basic gene Info. | Gene symbol | RNASE3 |
| Gene name | ribonuclease, RNase A family, 3 | |
| Synonyms | ECP|RNS3 | |
| Cytomap | UCSC genome browser: 14q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002935.2, | |
| Description | RNase 3cytotoxic ribonucleaseeosinophil cationic proteinribonuclease 3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 131398 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000169397 | ||
| HPRD : 00575 | ||
| Vega : OTTHUMG00000029604 | ||
| Protein | UniProt: P12724 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RNASE3 | |
| BioGPS: 6037 | ||
| Pathway | NCI Pathway Interaction Database: RNASE3 | |
| KEGG: RNASE3 | ||
| REACTOME: RNASE3 | ||
| Pathway Commons: RNASE3 | ||
| Context | iHOP: RNASE3 | |
| ligand binding site mutation search in PubMed: RNASE3 | ||
| UCL Cancer Institute: RNASE3 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0002227 | innate immune response in mucosa | 12860195 | GO:0019731 | antibacterial humoral response | 12860195 | GO:0050830 | defense response to Gram-positive bacterium | 12860195 |
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| Ligand binding site mutations for RNASE3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R102 | R102I | BLCA | 1 | V105,F103 | R104W | BRCA | 1 | F103 | F103L | COAD | 1 | R63 | R63H | COAD | 1 | R61 | R61Q | LUAD | 1 | R34 | A35D | LUAD | 1 | R63 | R63S | LUSC | 1 | S101 | R100Q | OV | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for RNASE3 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R61 | R61Q | -1.4620546 | R63 | R63H | -1.4039392 | R63 | R63S | -1.3854696 | S101 | R100Q | -0.72355534 | F103 | R104W | -0.67747593 | V105 | R104W | -0.67747593 | R102 | R102I | -0.57410999 | F103 | F103L | -0.56943144 | R34 | A35D | -0.46038816 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for RNASE3 from PDB |
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| Differential gene expression and gene-gene network for RNASE3 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for RNASE3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0004096 | Asthma | 19 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0085423 | Gram-Negative Bacterial Infections | 1 | Therapeutic |
| umls:C0085426 | Gram-Positive Bacterial Infections | 1 | Therapeutic |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RNASE3 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB01411 | Pranlukast | Small molecule |  |
| Experimental | DB02098 | Adenosine-2'-5'-Diphosphate | Small molecule |  |
| Nutraceutical|vet_approved | DB04272 | Citric Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of RNASE3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | A2P | ADENOSINE-2'-5'-DIPHOSPHATE | 1h1h | A | R34 | SO4 | SULFATE | 4a2o | A | R34 | SO4 | SULFATE | 4a2o | B | R34 | CIT | CITRIC ACID | 4a2y | B | R34 | LVZ | PROPAN-2-YL 2-DEOXY-6-O-SULFO-2-(SULFOAMINO)-ALPHA-D- GLUCOPYRANOSIDE | 2lvz | A | R34 | SO4 | SULFATE | 4oxb | A | R34 | SO4 | SULFATE | 4oxb | B | R34 | CIT | CITRIC ACID | 4oxf | A | R34 | CIT | CITRIC ACID | 4oxf | B | R34 | SO4 | SULFATE | 4x08 | B | R34 |
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| Conservation information for LBS of RNASE3 |
| Multiple alignments for P12724 in multiple species |
| LBS | AA sequence | # species | Species |
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