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mutLBSgeneDB |
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| Gene summary for MRPL47 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPL47 |
| Gene name | mitochondrial ribosomal protein L47 | |
| Synonyms | L47mt|MRP-L47|NCM1 | |
| Cytomap | UCSC genome browser: 3q26.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_020409.2, NM_177988.1, | |
| Description | 39S ribosomal protein L47, mitochondrialnasopharyngeal carcinoma metastasis-related 1nasopharyngeal carcinoma metastasis-related protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611852 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000136522 | ||
| HPRD : 14766 | ||
| Vega : OTTHUMG00000157784 | ||
| Protein | UniProt: Q9HD33 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL47 | |
| BioGPS: 57129 | ||
| Pathway | NCI Pathway Interaction Database: MRPL47 | |
| KEGG: MRPL47 | ||
| REACTOME: MRPL47 | ||
| Pathway Commons: MRPL47 | ||
| Context | iHOP: MRPL47 | |
| ligand binding site mutation search in PubMed: MRPL47 | ||
| UCL Cancer Institute: MRPL47 | ||
| 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 MRPL47 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K232 | L234I | COAD | 2 | R121 | R121Q | COAD | 1 | R123 | P125A | LUAD | 1 | W168,R164 | G166R | LUSC | 1 | I186 | P187L | STAD | 1 | I176 | I176L | STAD | 1 | K229 | K229N | STAD | 1 | K232 | L234I | UCEC | 1 | W168 | R169I | UCEC | 1 | R198 | R198L | 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 MRPL47 |
| 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 | R164 | G166R | 0.003514169 | W168 | G166R | 0.003514169 | R123 | P125A | -1.597242 | K232 | L234I | -1.1228887 | K229 | K229N | -0.90176853 | R198 | R198L | -0.66176762 | W168 | R169I | -0.29963559 | R121 | R121Q | -0.22898703 | I176 | I176L | -0.22661587 | I186 | P187L | -0.16191207 |
| (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 MRPL47 from PDB |
| PDB ID | PDB title | PDB structure | 3J9M | Structure of the human mitochondrial ribosome (class 1) |  |
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| Differential gene expression and gene-gene network for MRPL47 |
| 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 MRPL47 |
| 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 MRPL47 |
| 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 MRPL47 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | Y | R121 R123 R164 W168 I176 I186 R198 K229 K232 |
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| Conservation information for LBS of MRPL47 |
| Multiple alignments for Q9HD33 in multiple species |
| LBS | AA sequence | # species | Species | I172 | AWRRDIFGRII | 2 | Homo sapiens, Bos taurus | I172 | AWRRDIFGRIV | 1 | Mus musculus | I176 | DIFGRIIWHKF | 2 | Homo sapiens, Bos taurus | I176 | DIFGRIVWHKF | 1 | Mus musculus | I186 | FKQWPIPWYLN | 2 | Mus musculus, Bos taurus | I186 | FKQWVIPWHLN | 1 | Homo sapiens | K120 | LEQEAKRQRLP | 3 | Homo sapiens, Mus musculus, Bos taurus | K180 | RIIWHKFKQWV | 1 | Homo sapiens | K180 | RIVWHKFKQWP | 1 | Mus musculus | K180 | RIIWHKFKQWP | 1 | Bos taurus | K182 | IWHKFKQWVIP | 1 | Homo sapiens | K182 | VWHKFKQWPIP | 1 | Mus musculus | K182 | IWHKFKQWPIP | 1 | Bos taurus | K192 | PWHLNKRYNRK | 1 | Homo sapiens | K192 | PWYLNKRYNRR | 1 | Mus musculus | K192 | PWYLNKRYNRK | 1 | Bos taurus | K197 | KRYNRKRFFAL | 1 | Homo sapiens | K197 | KRYNRRRFFAM | 1 | Mus musculus | K197 | KRYNRKRFFAM | 1 | Bos taurus | K229 | ENLERKKAKIL | 1 | Homo sapiens | K229 | RSLQKKKEKIL | 1 | Mus musculus | K229 | ISLTQKKEKFL | 1 | Bos taurus | K230 | NLERKKAKILL | 1 | Homo sapiens | K230 | SLQKKKEKILH | 1 | Mus musculus | K230 | SLTQKKEKFLQ | 1 | Bos taurus | K232 | ERKKAKILLKK | 1 | Homo sapiens | K232 | QKKKEKILHAK | 1 | Mus musculus | K232 | TQKKEKFLQKK | 1 | Bos taurus | L190 | PIPWYLNKRYN | 2 | Mus musculus, Bos taurus | L190 | VIPWHLNKRYN | 1 | Homo sapiens | L202 | KRFFALPYVDH | 1 | Homo sapiens | L202 | RRFFAMPYVDR | 1 | Mus musculus | L202 | KRFFAMPYVER | 1 | Bos taurus | L226 | ARKENLERKKA | 1 | Homo sapiens | L226 | ARKRSLQKKKE | 1 | Mus musculus | L226 | ARKISLTQKKE | 1 | Bos taurus | N225 | KARKENLERKK | 1 | Homo sapiens | N225 | EARKRSLQKKK | 1 | Mus musculus | N225 | KARKISLTQKK | 1 | Bos taurus | Q117 | LLTLEQEAKRQ | 3 | Homo sapiens, Mus musculus, Bos taurus | R121 | EQEAKRQRLPM | 3 | Homo sapiens, Mus musculus, Bos taurus | R123 | EAKRQRLPMPS | 3 | Homo sapiens, Mus musculus, Bos taurus | R162 | QTGQEKPRPGA | 2 | Mus musculus, Bos taurus | R162 | QTGQERARPGA | 1 | Homo sapiens | R164 | GQEKPRPGAWR | 2 | Mus musculus, Bos taurus | R164 | GQERARPGAWR | 1 | Homo sapiens | R193 | WHLNKRYNRKR | 1 | Homo sapiens | R193 | WYLNKRYNRRR | 1 | Mus musculus | R193 | WYLNKRYNRKR | 1 | Bos taurus | R196 | NKRYNRKRFFA | 2 | Homo sapiens, Bos taurus | R196 | NKRYNRRRFFA | 1 | Mus musculus | R198 | RYNRKRFFALP | 1 | Homo sapiens | R198 | RYNRRRFFAMP | 1 | Mus musculus | R198 | RYNRKRFFAMP | 1 | Bos taurus | R213 | FLRLEREKRAR | 1 | Homo sapiens | R213 | FIRLRIEKHAR | 1 | Mus musculus | R213 | FVRLRIEKQAR | 1 | Bos taurus | R216 | LEREKRARIKA | 1 | Homo sapiens | R216 | LRIEKHARIEA | 1 | Mus musculus | R216 | LRIEKQARIKA | 1 | Bos taurus | R222 | ARIKARKENLE | 1 | Homo sapiens | R222 | ARIEARKRSLQ | 1 | Mus musculus | R222 | ARIKARKISLT | 1 | Bos taurus | R228 | KENLERKKAKI | 1 | Homo sapiens | R228 | KRSLQKKKEKI | 1 | Mus musculus | R228 | KISLTQKKEKF | 1 | Bos taurus | V185 | KFKQWPIPWYL | 2 | Mus musculus, Bos taurus | V185 | KFKQWVIPWHL | 1 | Homo sapiens | W168 | PRPGAWRRDIF | 2 | Mus musculus, Bos taurus | W168 | ARPGAWRRDIF | 1 | Homo sapiens | W178 | FGRIIWHKFKQ | 2 | Homo sapiens, Bos taurus | W178 | FGRIVWHKFKQ | 1 | Mus musculus | W184 | HKFKQWPIPWY | 2 | Mus musculus, Bos taurus | W184 | HKFKQWVIPWH | 1 | Homo sapiens |
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