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mutLBSgeneDB |
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| Gene summary for ISG20 |
 Gene summary |
| Basic gene Info. | Gene symbol | ISG20 |
| Gene name | interferon stimulated exonuclease gene 20kDa | |
| Synonyms | CD25|HEM45 | |
| Cytomap | UCSC genome browser: 15q26 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001303233.1, NM_001303234.1,NM_001303235.1,NM_001303236.1,NM_001303237.1, NM_002201.5,NR_130134.1, | |
| Description | estrogen-regulated transcript 45 proteininterferon-stimulated gene 20 kDa proteinpromyelocytic leukemia nuclear body-associated protein ISG20 | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 604533 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000172183 | ||
| HPRD : 05169 | ||
| Vega : OTTHUMG00000148679 | ||
| Protein | UniProt: Q96AZ6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ISG20 | |
| BioGPS: 3669 | ||
| Pathway | NCI Pathway Interaction Database: ISG20 | |
| KEGG: ISG20 | ||
| REACTOME: ISG20 | ||
| Pathway Commons: ISG20 | ||
| Context | iHOP: ISG20 | |
| ligand binding site mutation search in PubMed: ISG20 | ||
| UCL Cancer Institute: ISG20 | ||
| 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:0000738 | DNA catabolic process, exonucleolytic | 11401564 | GO:0006401 | RNA catabolic process | 11401564 | GO:0009615 | response to virus | 12594219 | GO:0090503 | RNA phosphodiester bond hydrolysis, exonucleolytic | 11401564 |
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| Ligand binding site mutations for ISG20 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H149 | L147F | COAD | 1 | D154 | A155V | STAD | 1 | D154 | D154H | STAD | 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 ISG20 |
| 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 | H149 | L147F | -1.0931231 | D154 | A155V | -0.76709493 | D154 | D154H | -0.4907654 |
| (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 ISG20 from PDB |
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| Differential gene expression and gene-gene network for ISG20 |
| 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 ISG20 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ISG20 |
| 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 |
| Experimental | DB03685 | Uridine-5'-Monophosphate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ISG20 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MN | MANGANESE(2+) | 1wlj | A | D154 | U5P | UMP | 1wlj | A | H149 D154 |
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| Conservation information for LBS of ISG20 |
| Multiple alignments for Q96AZ6 in multiple species |
| LBS | AA sequence | # species | Species |
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