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mutLBSgeneDB |
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| Gene summary for MRPL20 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPL20 |
| Gene name | mitochondrial ribosomal protein L20 | |
| Synonyms | L20mt|MRP-L20 | |
| Cytomap | UCSC genome browser: 1p36.3-p36.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_017971.3, | |
| Description | 39S ribosomal protein L20, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611833 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000242485 | ||
| HPRD : 14746 | ||
| Vega : OTTHUMG00000002916 | ||
| Protein | UniProt: Q9BYC9 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL20 | |
| BioGPS: 55052 | ||
| Pathway | NCI Pathway Interaction Database: MRPL20 | |
| KEGG: MRPL20 | ||
| REACTOME: MRPL20 | ||
| Pathway Commons: MRPL20 | ||
| Context | iHOP: MRPL20 | |
| ligand binding site mutation search in PubMed: MRPL20 | ||
| UCL Cancer Institute: MRPL20 | ||
| 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 MRPL20 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F128 | E126K | COAD | 1 | V43,L41 | A42V | HNSC | 1 | R32 | R32L | LUAD | 1 | G88 | G88W | PRAD | 1 | R40 | R40K | SKCM | 1 | R37 | R37S | SKCM | 1 | F128 | F128C | 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 MRPL20 |
| 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 | R40 | R40K | -1.0236014 | R37 | R37S | -0.95919689 | F128 | F128C | -0.59481251 | V43 | A42V | -0.46499376 | L41 | A42V | -0.46499376 | F128 | E126K | -0.36487484 | G88 | G88W | -0.11885308 | R32 | R32L | -0.023830347 |
| (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 MRPL20 from PDB |
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| Differential gene expression and gene-gene network for MRPL20 |
| 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 MRPL20 |
| 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 MRPL20 |
| 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 MRPL20 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | R | R32 R37 R40 L41 V43 G88 F128 |
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| Conservation information for LBS of MRPL20 |
| Multiple alignments for Q9BYC9 in multiple species |
| LBS | AA sequence | # species | Species | A49 | RTVIRAFVKCT | 1 | Homo sapiens | A49 | RAVTRAFVRCT | 1 | Bos taurus | A49 | RAVTRAFVKCT | 1 | Mus musculus | A56 | VKCTKARYLKK | 1 | Homo sapiens | A56 | VRCTRARSLKK | 1 | Bos taurus | A56 | VKCTKARRLKK | 1 | Mus musculus | C38 | GRKNRCYRLAV | 3 | Homo sapiens, Bos taurus, Mus musculus | C53 | RAFVKCTKARY | 1 | Homo sapiens | C53 | RAFVRCTRARS | 1 | Bos taurus | C53 | RAFVKCTKARR | 1 | Mus musculus | F128 | RRHEGFAAALG | 1 | Homo sapiens | F128 | RREEGFVAALG | 1 | Bos taurus | F128 | RQQEGFAAALG | 1 | Mus musculus | F31 | KHARHFRGRKN | 2 | Homo sapiens, Bos taurus | F31 | KHAQHFRGRKN | 1 | Mus musculus | G88 | YPALIGNLVKC | 1 | Homo sapiens | G88 | YPAFILNLIKC | 1 | Bos taurus | G88 | YPAFIVNLIKC | 1 | Mus musculus | H30 | LKHARHFRGRK | 2 | Homo sapiens, Bos taurus | H30 | LKHAQHFRGRK | 1 | Mus musculus | I47 | AVRTVIRAFVK | 1 | Homo sapiens | I47 | AVRAVTRAFVR | 1 | Bos taurus | I47 | AVRAVTRAFVK | 1 | Mus musculus | K100 | VELNRKVLADL | 2 | Homo sapiens, Bos taurus | K100 | VELNRKVLVDL | 1 | Mus musculus | K35 | HFRGRKNRCYR | 3 | Homo sapiens, Bos taurus, Mus musculus | K52 | IRAFVKCTKAR | 1 | Homo sapiens | K52 | TRAFVRCTRAR | 1 | Bos taurus | K52 | TRAFVKCTKAR | 1 | Mus musculus | K60 | KARYLKKKNMR | 1 | Homo sapiens | K60 | RARSLKKRHLR | 1 | Bos taurus | K60 | KARRLKKRNLR | 1 | Mus musculus | K61 | ARYLKKKNMRT | 1 | Homo sapiens | K61 | ARSLKKRHLRT | 1 | Bos taurus | K61 | ARRLKKRNLRT | 1 | Mus musculus | K62 | RYLKKKNMRTL | 1 | Homo sapiens | K62 | RSLKKRHLRTL | 1 | Bos taurus | K62 | RRLKKRNLRTL | 1 | Mus musculus | K82 | QEHGLKYPAFI | 2 | Bos taurus, Mus musculus | K82 | QEHGLKYPALI | 1 | Homo sapiens | L10 | TAQLWLRNRVT | 1 | Homo sapiens | L10 | SAPLWLRNRIT | 1 | Bos taurus | L10 | TTRLWLRNRLT | 1 | Mus musculus | L41 | NRCYRLAVRAV | 2 | Bos taurus, Mus musculus | L41 | NRCYRLAVRTV | 1 | Homo sapiens | L59 | TKARYLKKKNM | 1 | Homo sapiens | L59 | TRARSLKKRHL | 1 | Bos taurus | L59 | TKARRLKKRNL | 1 | Mus musculus | M64 | LKKKNMRTLWI | 1 | Homo sapiens | M64 | LKKRHLRTLWI | 1 | Bos taurus | M64 | LKKRNLRTLWI | 1 | Mus musculus | N12 | QLWLRNRVTDR | 1 | Homo sapiens | N12 | PLWLRNRITDR | 1 | Bos taurus | N12 | RLWLRNRLTDR | 1 | Mus musculus | N98 | CQVELNRKVLA | 2 | Homo sapiens, Bos taurus | N98 | CQVELNRKVLV | 1 | Mus musculus | P84 | HGLKYPALIGN | 1 | Homo sapiens | P84 | HGLKYPAFILN | 1 | Bos taurus | P84 | HGLKYPAFIVN | 1 | Mus musculus | R11 | AQLWLRNRVTD | 1 | Homo sapiens | R11 | APLWLRNRITD | 1 | Bos taurus | R11 | TRLWLRNRLTD | 1 | Mus musculus | R13 | LWLRNRVTDRY | 1 | Homo sapiens | R13 | LWLRNRITDRY | 1 | Bos taurus | R13 | LWLRNRLTDRY | 1 | Mus musculus | R17 | NRVTDRYFRIQ | 1 | Homo sapiens | R17 | NRITDRYWRVQ | 1 | Bos taurus | R17 | NRLTDRYWRVQ | 1 | Mus musculus | R20 | TDRYWRVQEVL | 2 | Bos taurus, Mus musculus | R20 | TDRYFRIQEVL | 1 | Homo sapiens | R32 | HARHFRGRKNR | 2 | Homo sapiens, Bos taurus | R32 | HAQHFRGRKNR | 1 | Mus musculus | R34 | RHFRGRKNRCY | 2 | Homo sapiens, Bos taurus | R34 | QHFRGRKNRCY | 1 | Mus musculus | R37 | RGRKNRCYRLA | 3 | Homo sapiens, Bos taurus, Mus musculus | R40 | KNRCYRLAVRA | 2 | Bos taurus, Mus musculus | R40 | KNRCYRLAVRT | 1 | Homo sapiens | R44 | YRLAVRAVTRA | 2 | Bos taurus, Mus musculus | R44 | YRLAVRTVIRA | 1 | Homo sapiens | R48 | VRTVIRAFVKC | 1 | Homo sapiens | R48 | VRAVTRAFVRC | 1 | Bos taurus | R48 | VRAVTRAFVKC | 1 | Mus musculus | R57 | KCTKARYLKKK | 1 | Homo sapiens | R57 | RCTRARSLKKR | 1 | Bos taurus | R57 | KCTKARRLKKR | 1 | Mus musculus | R65 | KKKNMRTLWIN | 1 | Homo sapiens | R65 | KKRHLRTLWIN | 1 | Bos taurus | R65 | KKRNLRTLWIN | 1 | Mus musculus | R99 | QVELNRKVLAD | 2 | Homo sapiens, Bos taurus | R99 | QVELNRKVLVD | 1 | Mus musculus | T15 | LRNRVTDRYFR | 1 | Homo sapiens | T15 | LRNRITDRYWR | 1 | Bos taurus | T15 | LRNRLTDRYWR | 1 | Mus musculus | V14 | WLRNRVTDRYF | 1 | Homo sapiens | V14 | WLRNRITDRYW | 1 | Bos taurus | V14 | WLRNRLTDRYW | 1 | Mus musculus | V43 | CYRLAVRAVTR | 2 | Bos taurus, Mus musculus | V43 | CYRLAVRTVIR | 1 | Homo sapiens | W68 | NMRTLWINRIT | 1 | Homo sapiens | W68 | HLRTLWINRIT | 1 | Bos taurus | W68 | NLRTLWINRIT | 1 | Mus musculus | Y39 | RKNRCYRLAVR | 3 | Homo sapiens, Bos taurus, Mus musculus | Y58 | CTKARYLKKKN | 1 | Homo sapiens | Y58 | CTRARSLKKRH | 1 | Bos taurus | Y58 | CTKARRLKKRN | 1 | Mus musculus | Y83 | EHGLKYPALIG | 1 | Homo sapiens | Y83 | EHGLKYPAFIL | 1 | Bos taurus | Y83 | EHGLKYPAFIV | 1 | Mus musculus |
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