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mutLBSgeneDB |
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| Gene summary for MRPS18A |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPS18A |
| Gene name | mitochondrial ribosomal protein S18A | |
| Synonyms | HumanS18b|MRP-S18-3|MRPS18-3|S18bmt | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001193343.1, NM_018135.3, | |
| Description | 28S ribosomal protein S18-3, mitochondrial28S ribosomal protein S18a, mitochondrialMRP-S18-aS18mt-amitochondrial ribosomal protein S18-3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611981 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000096080 | ||
| HPRD : 14780 | ||
| Vega : OTTHUMG00000014750 | ||
| Protein | UniProt: Q9NVS2 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPS18A | |
| BioGPS: 55168 | ||
| Pathway | NCI Pathway Interaction Database: MRPS18A | |
| KEGG: MRPS18A | ||
| REACTOME: MRPS18A | ||
| Pathway Commons: MRPS18A | ||
| Context | iHOP: MRPS18A | |
| ligand binding site mutation search in PubMed: MRPS18A | ||
| UCL Cancer Institute: MRPS18A | ||
| 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 |
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| Ligand binding site mutations for MRPS18A |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K160 | P161L | SKCM | 1 | H112 | R113C | 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 MRPS18A |
| 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 | H112 | R113C | -0.69198872 | K160 | P161L | -0.094433667 |
| (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 MRPS18A from PDB |
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| Differential gene expression and gene-gene network for MRPS18A |
| 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 MRPS18A |
| 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 MRPS18A |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MRPS18A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | r | H112 K160 |
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| Conservation information for LBS of MRPS18A |
| Multiple alignments for Q9NVS2 in multiple species |
| LBS | AA sequence | # species | Species | A155 | YLTRWAPGSVK | 1 | Homo sapiens | A155 | YLTRWAPKSVK | 1 | Mus musculus | A155 | YLTRWSPRSVK | 1 | Bos taurus | C108 | KITGLCQEEHR | 1 | Homo sapiens | C108 | RVTGLCREEHR | 1 | Mus musculus | C108 | SITGLCQEEHR | 1 | Bos taurus | C70 | NPSGQCPICRW | 3 | Homo sapiens, Mus musculus, Bos taurus | C73 | GQCPICRWNLK | 3 | Homo sapiens, Mus musculus, Bos taurus | D84 | HKYNYDDVLLL | 1 | Homo sapiens | D84 | HKYTYEDVLLL | 1 | Mus musculus | D84 | HKYSYEDVLLL | 1 | Bos taurus | E116 | EHRKIEECVKM | 3 | Homo sapiens, Mus musculus, Bos taurus | G157 | TRWAPGSVKPI | 1 | Homo sapiens | G157 | TRWAPKSVKPI | 1 | Mus musculus | G157 | TRWSPRSVKPI | 1 | Bos taurus | G166 | PIYKKGPRWNR | 1 | Homo sapiens | G166 | PIYKKGHRWNK | 1 | Mus musculus | G166 | PIYNKGHRWNK | 1 | Bos taurus | G98 | IRPHGGMLPRK | 1 | Homo sapiens | G98 | IRPYGGMLPRR | 1 | Mus musculus | G98 | IRPHGGMLPRS | 1 | Bos taurus | H112 | LCQEEHRKIEE | 2 | Homo sapiens, Bos taurus | H112 | LCREEHRKIEE | 1 | Mus musculus | H123 | CVKMAHRAGLL | 3 | Homo sapiens, Mus musculus, Bos taurus | H79 | RWNLKHKYNYD | 1 | Homo sapiens | H79 | RWNLKHKYTYE | 1 | Mus musculus | H79 | RWNLKHKYSYE | 1 | Bos taurus | H96 | QFIRPHGGMLP | 2 | Homo sapiens, Bos taurus | H96 | QFIRPYGGMLP | 1 | Mus musculus | K120 | IEECVKMAHRA | 3 | Homo sapiens, Mus musculus, Bos taurus | K160 | APGSVKPIYKK | 1 | Homo sapiens | K160 | APKSVKPIYKK | 1 | Mus musculus | K160 | SPRSVKPIYNK | 1 | Bos taurus | K165 | KPIYKKGPRWN | 1 | Homo sapiens | K165 | KPIYKKGHRWN | 1 | Mus musculus | K165 | KPIYNKGHRWN | 1 | Bos taurus | K193 | SRTPWKLYH | 1 | Homo sapiens | K193 | SRRPLKMMH | 1 | Mus musculus | K193 | TGRPLVLYH | 1 | Bos taurus | L100 | PHGGMLPRKIT | 1 | Homo sapiens | L100 | PYGGMLPRRVT | 1 | Mus musculus | L100 | PHGGMLPRSIT | 1 | Bos taurus | L151 | QLNRYLTRWAP | 1 | Homo sapiens | L151 | KLNRYLTRWAP | 1 | Mus musculus | L151 | RLNRYLTRWSP | 1 | Bos taurus | L194 | RTPWKLYH | 1 | Homo sapiens | L194 | RRPLKMMH | 1 | Mus musculus | L194 | GRPLVLYH | 1 | Bos taurus | M99 | RPHGGMLPRKI | 1 | Homo sapiens | M99 | RPYGGMLPRRV | 1 | Mus musculus | M99 | RPHGGMLPRSI | 1 | Bos taurus | N82 | LKHKYNYDDVL | 1 | Homo sapiens | N82 | LKHKYTYEDVL | 1 | Mus musculus | N82 | LKHKYSYEDVL | 1 | Bos taurus | P101 | HGGMLPRKITG | 1 | Homo sapiens | P101 | YGGMLPRRVTG | 1 | Mus musculus | P101 | HGGMLPRSITG | 1 | Bos taurus | P179 | MAVGSPLLKDN | 2 | Mus musculus, Bos taurus | P179 | MPVGSPLLRDN | 1 | Homo sapiens | R102 | GGMLPRKITGL | 1 | Homo sapiens | R102 | GGMLPRRVTGL | 1 | Mus musculus | R102 | GGMLPRSITGL | 1 | Bos taurus | R124 | VKMAHRAGLLP | 3 | Homo sapiens, Mus musculus, Bos taurus | R153 | NRYLTRWAPGS | 1 | Homo sapiens | R153 | NRYLTRWAPKS | 1 | Mus musculus | R153 | NRYLTRWSPRS | 1 | Bos taurus | R168 | YKKGPRWNRVR | 1 | Homo sapiens | R168 | YKKGHRWNKVG | 1 | Mus musculus | R168 | YNKGHRWNKVR | 1 | Bos taurus | R171 | GPRWNRVRMPV | 1 | Homo sapiens | R171 | GHRWNKVGMAV | 1 | Mus musculus | R171 | GHRWNKVRMAV | 1 | Bos taurus | R173 | RWNRVRMPVGS | 1 | Homo sapiens | R173 | RWNKVGMAVGS | 1 | Mus musculus | R173 | RWNKVRMAVGS | 1 | Bos taurus | R182 | GSPLLRDNVCY | 1 | Homo sapiens | R182 | GSPLLKDNVCY | 1 | Mus musculus | R182 | GSPLLKDNVSY | 1 | Bos taurus | R189 | NVCYSRTPWKL | 1 | Homo sapiens | R189 | NVCYSRRPLKM | 1 | Mus musculus | R189 | NVSYTGRPLVL | 1 | Bos taurus | R94 | LSQFIRPHGGM | 2 | Homo sapiens, Bos taurus | R94 | LSQFIRPYGGM | 1 | Mus musculus | S158 | RWAPGSVKPIY | 1 | Homo sapiens | S158 | RWAPKSVKPIY | 1 | Mus musculus | S158 | RWSPRSVKPIY | 1 | Bos taurus | S188 | DNVCYSRTPWK | 1 | Homo sapiens | S188 | DNVCYSRRPLK | 1 | Mus musculus | S188 | DNVSYTGRPLV | 1 | Bos taurus | W154 | RYLTRWAPGSV | 1 | Homo sapiens | W154 | RYLTRWAPKSV | 1 | Mus musculus | W154 | RYLTRWSPRSV | 1 | Bos taurus | W169 | KKGPRWNRVRM | 1 | Homo sapiens | W169 | KKGHRWNKVGM | 1 | Mus musculus | W169 | NKGHRWNKVRM | 1 | Bos taurus | W192 | YSRTPWKLYH | 1 | Homo sapiens | W192 | YSRRPLKMMH | 1 | Mus musculus | W192 | YTGRPLVLYH | 1 | Bos taurus | Y150 | PQLNRYLTRWA | 1 | Homo sapiens | Y150 | PKLNRYLTRWA | 1 | Mus musculus | Y150 | PRLNRYLTRWS | 1 | Bos taurus | Y195 | TPWKLYH | 1 | Homo sapiens | Y195 | RPLKMMH | 1 | Mus musculus | Y195 | RPLVLYH | 1 | Bos taurus |
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