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mutLBSgeneDB |
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| Gene summary for MRPL48 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPL48 |
| Gene name | mitochondrial ribosomal protein L48 | |
| Synonyms | HSPC290|L48MT|MRP-L48 | |
| Cytomap | UCSC genome browser: 11q13.4 | |
| Type of gene | protein-coding | |
| RefGenes | NM_016055.5, NM_001030046.1, | |
| Description | 39S ribosomal protein L48, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611853 | |
| HGNC : HGNC | ||
| HPRD : 14767 | ||
| Protein | UniProt: Q96GC5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL48 | |
| BioGPS: 51642 | ||
| Pathway | NCI Pathway Interaction Database: MRPL48 | |
| KEGG: MRPL48 | ||
| REACTOME: MRPL48 | ||
| Pathway Commons: MRPL48 | ||
| Context | iHOP: MRPL48 | |
| ligand binding site mutation search in PubMed: MRPL48 | ||
| UCL Cancer Institute: MRPL48 | ||
| 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 MRPL48 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G55 | G55D | COAD | 1 | Y59 | K60N | 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 MRPL48 |
| 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 | Y59 | K60N | -1.0606209 | G55 | G55D | -0.51232101 |
| (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 MRPL48 from PDB |
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| Differential gene expression and gene-gene network for MRPL48 |
| 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 MRPL48 |
| 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 MRPL48 |
| 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 MRPL48 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | f | G55 Y59 |
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| Conservation information for LBS of MRPL48 |
| Multiple alignments for Q96GC5 in multiple species |
| LBS | AA sequence | # species | Species | G55 | TKPTHGIGKYK | 1 | Homo sapiens | G55 | TKPTHGIGRYR | 1 | Mus musculus | G55 | SKPTHGIGRYK | 1 | Bos taurus | G57 | PTHGIGKYKHL | 1 | Homo sapiens | G57 | PTHGIGRYRHL | 1 | Mus musculus | G57 | PTHGIGRYKHL | 1 | Bos taurus | H111 | YAQYVHNLCNS | 1 | Homo sapiens | H111 | YAQYVHRLCNR | 1 | Mus musculus | H111 | YAQYVHNLCNH | 1 | Bos taurus | H54 | KTKPTHGIGKY | 1 | Homo sapiens | H54 | KTKPTHGIGRY | 1 | Mus musculus | H54 | RSKPTHGIGRY | 1 | Bos taurus | I56 | KPTHGIGKYKH | 1 | Homo sapiens | I56 | KPTHGIGRYRH | 1 | Mus musculus | I56 | KPTHGIGRYKH | 1 | Bos taurus | K49 | ISRPYKTKPTH | 1 | Homo sapiens | K49 | -SRHYKTKPTH | 1 | Mus musculus | K49 | TSRHYRSKPTH | 1 | Bos taurus | K51 | RPYKTKPTHGI | 1 | Homo sapiens | K51 | RHYKTKPTHGI | 1 | Mus musculus | K51 | RHYRSKPTHGI | 1 | Bos taurus | K58 | THGIGKYKHLI | 1 | Homo sapiens | K58 | THGIGRYRHLV | 1 | Mus musculus | K58 | THGIGRYKHLV | 1 | Bos taurus | N115 | VHNLCNSLSIK | 1 | Homo sapiens | N115 | VHRLCNRLSIK | 1 | Mus musculus | N115 | VHNLCNHLSIK | 1 | Bos taurus | Q108 | AESYAQYVHNL | 1 | Homo sapiens | Q108 | AESYAQYVHRL | 1 | Mus musculus | Q108 | TESYAQYVHNL | 1 | Bos taurus | R155 | LTTHERVVQIS | 3 | Homo sapiens, Mus musculus, Bos taurus | S124 | IKVEESYAMPT | 3 | Homo sapiens, Mus musculus, Bos taurus | T50 | SRPYKTKPTHG | 1 | Homo sapiens | T50 | SRHYKTKPTHG | 1 | Mus musculus | T50 | SRHYRSKPTHG | 1 | Bos taurus | Y48 | SISRPYKTKPT | 1 | Homo sapiens | Y48 | T-SRHYKTKPT | 1 | Mus musculus | Y48 | TTSRHYRSKPT | 1 | Bos taurus | Y59 | HGIGKYKHLIK | 1 | Homo sapiens | Y59 | HGIGRYRHLVK | 1 | Mus musculus | Y59 | HGIGRYKHLVK | 1 | Bos taurus |
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