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mutLBSgeneDB |
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| Gene summary for MRPL30 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPL30 |
| Gene name | mitochondrial ribosomal protein L30 | |
| Synonyms | L28MT|L30MT|MRP-L28|MRP-L30|MRPL28|MRPL28M|RPML28 | |
| Cytomap | UCSC genome browser: 2q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_145212.3, NR_028356.1,NM_016503.2,NM_145213.2, | |
| Description | 39S ribosomal protein L28, mitochondrial39S ribosomal protein L30, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611838 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000241962 | ||
| HPRD : 14751 | ||
| Protein | UniProt: Q8TCC3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL30 | |
| BioGPS: 51263 | ||
| Pathway | NCI Pathway Interaction Database: MRPL30 | |
| KEGG: MRPL30 | ||
| REACTOME: MRPL30 | ||
| Pathway Commons: MRPL30 | ||
| Context | iHOP: MRPL30 | |
| ligand binding site mutation search in PubMed: MRPL30 | ||
| UCL Cancer Institute: MRPL30 | ||
| 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 MRPL30 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S39 | S39L | BLCA | 1 | A94 | E92Q | BRCA | 1 | K35 | R33C | COAD | 1 | A94 | K93Q | COAD | 1 | R40 | R40I | COAD | 1 | K35 | R33S | UCEC | 1 | M88 | K87Q | 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 MRPL30 |
| 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 | S39 | S39L | 0.13582456 | K35 | R33S | -1.4178355 | K35 | R33C | -1.1811417 | A94 | K93Q | -0.98785529 | A94 | E92Q | -0.86248774 | M88 | K87Q | -0.78345686 | R40 | R40I | -0.48246538 |
| (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 MRPL30 from PDB |
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| Differential gene expression and gene-gene network for MRPL30 |
| 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 MRPL30 |
| 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 MRPL30 |
| 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 MRPL30 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | Z | K35 S39 R40 M88 A94 |
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| Conservation information for LBS of MRPL30 |
| Multiple alignments for Q8TCC3 in multiple species |
| LBS | AA sequence | # species | Species | A94 | LGLQKAHSPQI | 2 | Mus musculus, Rattus norvegicus | A94 | LGLEKAHTPQV | 1 | Homo sapiens | A94 | LGLQKAHTPQV | 1 | Bos taurus | F36 | WIRHKFTRSRI | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | F36 | WIRHKFTKSRI | 1 | Mus musculus | H100 | HTPQVHKNIPS | 2 | Homo sapiens, Bos taurus | H100 | HSPQIHKNIPS | 2 | Mus musculus, Rattus norvegicus | H95 | GLQKAHSPQIH | 2 | Mus musculus, Rattus norvegicus | H95 | GLEKAHTPQVH | 1 | Homo sapiens | H95 | GLQKAHTPQVH | 1 | Bos taurus | I85 | YWEKDIIKMLG | 2 | Homo sapiens, Bos taurus | I85 | YWEKDTIKMLG | 2 | Mus musculus, Rattus norvegicus | K101 | TPQVHKNIPSV | 2 | Homo sapiens, Bos taurus | K101 | SPQIHKNIPSV | 2 | Mus musculus, Rattus norvegicus | K109 | PSVNAKLKVVK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K109 | PSVNAKLKIVK | 1 | Bos taurus | K35 | DWIRHKFTRSR | 2 | Homo sapiens, Bos taurus | K35 | EWIRHKFTKSR | 1 | Mus musculus | K35 | EWIRHKFTRSR | 1 | Rattus norvegicus | K73 | IVTRIRSTKRR | 2 | Mus musculus, Rattus norvegicus | K73 | IVTRIKSTRRR | 1 | Homo sapiens | K73 | IVTRIKSTKRR | 1 | Bos taurus | K83 | RPYWEKDIIKM | 2 | Homo sapiens, Bos taurus | K83 | RPYWEKDTIKM | 2 | Mus musculus, Rattus norvegicus | L89 | DTIKMLGLQKA | 2 | Mus musculus, Rattus norvegicus | L89 | DIIKMLGLEKA | 1 | Homo sapiens | L89 | DIIKMLGLQKA | 1 | Bos taurus | M88 | KDTIKMLGLQK | 2 | Mus musculus, Rattus norvegicus | M88 | KDIIKMLGLEK | 1 | Homo sapiens | M88 | KDIIKMLGLQK | 1 | Bos taurus | P79 | STKRRPYWEKD | 3 | Bos taurus, Mus musculus, Rattus norvegicus | P79 | STRRRPYWEKD | 1 | Homo sapiens | R38 | RHKFTRSRIPD | 2 | Bos taurus, Rattus norvegicus | R38 | RHKFTRSRIPE | 1 | Homo sapiens | R38 | RHKFTKSRIPD | 1 | Mus musculus | R40 | KFTRSRIPEKV | 1 | Homo sapiens | R40 | KFTRSRIPDEV | 1 | Bos taurus | R40 | KFTKSRIPDKV | 1 | Mus musculus | R40 | KFTRSRIPDKV | 1 | Rattus norvegicus | R71 | LHIVTRIRSTK | 2 | Mus musculus, Rattus norvegicus | R71 | LHIVTRIKSTR | 1 | Homo sapiens | R71 | LHIVTRIKSTK | 1 | Bos taurus | R76 | RIRSTKRRPYW | 2 | Mus musculus, Rattus norvegicus | R76 | RIKSTRRRPYW | 1 | Homo sapiens | R76 | RIKSTKRRPYW | 1 | Bos taurus | R77 | IRSTKRRPYWE | 2 | Mus musculus, Rattus norvegicus | R77 | IKSTRRRPYWE | 1 | Homo sapiens | R77 | IKSTKRRPYWE | 1 | Bos taurus | S105 | HKNIPSVNAKL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S39 | HKFTRSRIPEK | 1 | Homo sapiens | S39 | HKFTRSRIPDE | 1 | Bos taurus | S39 | HKFTKSRIPDK | 1 | Mus musculus | S39 | HKFTRSRIPDK | 1 | Rattus norvegicus | S74 | VTRIRSTKRRP | 2 | Mus musculus, Rattus norvegicus | S74 | VTRIKSTRRRP | 1 | Homo sapiens | S74 | VTRIKSTKRRP | 1 | Bos taurus | T37 | IRHKFTRSRIP | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | T37 | IRHKFTKSRIP | 1 | Mus musculus | V106 | KNIPSVNAKLK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W81 | KRRPYWEKDTI | 2 | Mus musculus, Rattus norvegicus | W81 | RRRPYWEKDII | 1 | Homo sapiens | W81 | KRRPYWEKDII | 1 | Bos taurus | Y80 | TKRRPYWEKDT | 2 | Mus musculus, Rattus norvegicus | Y80 | TRRRPYWEKDI | 1 | Homo sapiens | Y80 | TKRRPYWEKDI | 1 | Bos taurus |
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