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mutLBSgeneDB |
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| Gene summary for OAS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | OAS1 |
| Gene name | 2'-5'-oligoadenylate synthetase 1, 40/46kDa | |
| Synonyms | IFI-4|OIAS|OIASI | |
| Cytomap | UCSC genome browser: 12q24.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001032409.1, NM_002534.2,NM_016816.2, | |
| Description | (2-5')oligo(A) synthase 1(2-5')oligo(A) synthetase 12',5'-oligo A synthetase 12',5'-oligoadenylate synthetase 1, 40/46kDa2'-5' oligoadenylate synthetase 1 p48 isoform2'-5' oligoadenylate synthetase 1 p52 isoform2'-5'-oligoadenylate synthase 12'-5'- | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 164350 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000089127 | ||
| HPRD : 08879 | ||
| Vega : OTTHUMG00000169792 | ||
| Protein | UniProt: P00973 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_OAS1 | |
| BioGPS: 4938 | ||
| Pathway | NCI Pathway Interaction Database: OAS1 | |
| KEGG: OAS1 | ||
| REACTOME: OAS1 | ||
| Pathway Commons: OAS1 | ||
| Context | iHOP: OAS1 | |
| ligand binding site mutation search in PubMed: OAS1 | ||
| UCL Cancer Institute: OAS1 | ||
| 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:0006164 | purine nucleotide biosynthetic process | 11682059 | GO:0009615 | response to virus | 18931074 | GO:0035457 | cellular response to interferon-alpha | 3753689 | GO:0045071 | negative regulation of viral genome replication | 18931074 | GO:0051259 | protein oligomerization | 11682059 | GO:0051607 | defense response to virus | 19923450 | GO:0060700 | regulation of ribonuclease activity | 19923450 |
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| Ligand binding site mutations for OAS1 |
| 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 | R47 | S49T | LUAD | 1 | D75 | D75E | SKCM | 1 | D13 | D13E | SKCM | 1 | S63 | S63F | SKCM | 1 | K204 | K204E | STAD | 1 | N31 | I30T | UCEC | 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 OAS1 |
| 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 | D75 | D75E | 0.33426544 | D13 | D13E | -1.2530429 | N31 | I30T | -1.1688688 | K204 | K204E | -0.671803 | R47 | S49T | -0.6190382 | S63 | S63F | -0.28158582 |
| (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 OAS1 from PDB |
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| Differential gene expression and gene-gene network for OAS1 |
| 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 OAS1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0011854 | Diabetes Mellitus, Type 1 | 6 | Biomarker, GeneticVariation |
| umls:C0042769 | Virus Diseases | 2 | Biomarker |
| umls:C0021400 | Influenza, Human | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for OAS1 |
| 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 | DB02987 | Cysteine-S-Acetamide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of OAS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4ig8 | A | D13 N31 K204 | MG | MAGNESIUM(2+) | 4ig8 | A | D75 | MG | MAGNESIUM(2+) | 4ig8 | A | D75 | NUC | Nucleic Acids | 4ig8 | A | R47 | DTP | DATP(4-) | 4ig8 | A | S63 |
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| Conservation information for LBS of OAS1 |
| Multiple alignments for P00973 in multiple species |
| LBS | AA sequence | # species | Species | C38 | AIDIICGFLKE | 1 | Homo sapiens | C38 | AVNVVCDFLKE | 1 | Mus musculus | C38 | AINVLCDFLKE | 1 | Rattus norvegicus | C54 | SSYPVCVSKVV | 1 | Homo sapiens | C54 | AAHPVRVSKVV | 1 | Mus musculus | C54 | TVHPVRVSKVV | 1 | Rattus norvegicus | D13 | PAKSLDKFIED | 1 | Homo sapiens | D13 | PAWTLDKFIED | 1 | Mus musculus | D13 | PSWKLDKFIEV | 1 | Rattus norvegicus | D148 | EGVEFDVLPAF | 1 | Homo sapiens | D148 | QEVEFDVLPAF | 1 | Mus musculus | D148 | QEVEFDVLPAY | 1 | Rattus norvegicus | D35 | INHAIDIICGF | 1 | Homo sapiens | D35 | VKSAVNVVCDF | 1 | Mus musculus | D35 | VKSAINVLCDF | 1 | Rattus norvegicus | D75 | LKGKSDADLVV | 2 | Mus musculus, Rattus norvegicus | D75 | LRGRSDADLVV | 1 | Homo sapiens | D77 | GKSDADLVVFL | 2 | Mus musculus, Rattus norvegicus | D77 | GRSDADLVVFL | 1 | Homo sapiens | E17 | LDKFIEDYLLP | 2 | Homo sapiens, Mus musculus | E17 | LDKFIEVYLLP | 1 | Rattus norvegicus | E43 | CGFLKERCFRG | 1 | Homo sapiens | E43 | CDFLKERCFQG | 1 | Mus musculus | E43 | CDFLKERCFRD | 1 | Rattus norvegicus | G62 | KVVKGGSSGKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G67 | GSSGKGTTLKG | 2 | Mus musculus, Rattus norvegicus | G67 | GSSGKGTTLRG | 1 | Homo sapiens | H248 | GSMKTHFNTAQ | 1 | Homo sapiens | H248 | GNGCYEFNTAQ | 1 | Mus musculus | H248 | GNGITEFNTAQ | 1 | Rattus norvegicus | I34 | QINHAIDIICG | 1 | Homo sapiens | I34 | DVKSAVNVVCD | 1 | Mus musculus | I34 | DVKSAINVLCD | 1 | Rattus norvegicus | K14 | AKSLDKFIEDY | 1 | Homo sapiens | K14 | AWTLDKFIEDY | 1 | Mus musculus | K14 | SWKLDKFIEVY | 1 | Rattus norvegicus | K199 | QRNFLKQRPTK | 2 | Mus musculus, Rattus norvegicus | K199 | QRDFLKQRPTK | 1 | Homo sapiens | K204 | KQRPTKLKSLI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K206 | RPTKLKSLIRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K213 | LIRLVKHWYQL | 2 | Mus musculus, Rattus norvegicus | K213 | LIRLVKHWYQN | 1 | Homo sapiens | K42 | ICGFLKERCFR | 1 | Homo sapiens | K42 | VCDFLKERCFQ | 1 | Mus musculus | K42 | LCDFLKERCFR | 1 | Rattus norvegicus | K57 | PVRVSKVVKGG | 2 | Mus musculus, Rattus norvegicus | K57 | PVCVSKVVKGG | 1 | Homo sapiens | K60 | VSKVVKGGSSG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N31 | FRMQINHAIDI | 1 | Homo sapiens | N31 | FGADVKSAVNV | 1 | Mus musculus | N31 | FRDDVKSAINV | 1 | Rattus norvegicus | P22 | EDYLLPDTCFR | 1 | Homo sapiens | P22 | EDYLLPDTTFG | 1 | Mus musculus | P22 | EVYLLPNTSFR | 1 | Rattus norvegicus | Q158 | FDALGQLTGGY | 1 | Homo sapiens | Q158 | FDVLGHVNTSS | 1 | Mus musculus | Q158 | YDVLGHVSLYS | 1 | Rattus norvegicus | Q200 | RNFLKQRPTKL | 2 | Mus musculus, Rattus norvegicus | Q200 | RDFLKQRPTKL | 1 | Homo sapiens | Q229 | KPLPPQYALEL | 2 | Mus musculus, Rattus norvegicus | Q229 | K-LPPQYALEL | 1 | Homo sapiens | R27 | PDTCFRMQINH | 1 | Homo sapiens | R27 | PDTTFGADVKS | 1 | Mus musculus | R27 | PNTSFRDDVKS | 1 | Rattus norvegicus | R47 | KERCFRGSSYP | 1 | Homo sapiens | R47 | KERCFQGAAHP | 1 | Mus musculus | R47 | KERCFRDTVHP | 1 | Rattus norvegicus | S56 | HPVRVSKVVKG | 2 | Mus musculus, Rattus norvegicus | S56 | YPVCVSKVVKG | 1 | Homo sapiens | S63 | VVKGGSSGKGT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T203 | LKQRPTKLKSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T24 | YLLPDTCFRMQ | 1 | Homo sapiens | T24 | YLLPDTTFGAD | 1 | Mus musculus | T24 | YLLPNTSFRDD | 1 | Rattus norvegicus | T247 | RGSMKTHFNTA | 1 | Homo sapiens | T247 | QGNGCYEFNTA | 1 | Mus musculus | T247 | RGNGITEFNTA | 1 | Rattus norvegicus | V55 | SYPVCVSKVVK | 1 | Homo sapiens | V55 | AHPVRVSKVVK | 1 | Mus musculus | V55 | VHPVRVSKVVK | 1 | Rattus norvegicus | V58 | VRVSKVVKGGS | 2 | Mus musculus, Rattus norvegicus | V58 | VCVSKVVKGGS | 1 | Homo sapiens |
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