|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for MRPS30 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPS30 |
| Gene name | mitochondrial ribosomal protein S30 | |
| Synonyms | MRP-S30|PAP|PDCD9|S30mt | |
| Cytomap | UCSC genome browser: 5q11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_016640.3, | |
| Description | 28S ribosomal protein S30, mitochondrialprogrammed cell death 9 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611991 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112996 | ||
| HPRD : 17597 | ||
| Vega : OTTHUMG00000096967 | ||
| Protein | UniProt: Q9NP92 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPS30 | |
| BioGPS: 10884 | ||
| Pathway | NCI Pathway Interaction Database: MRPS30 | |
| KEGG: MRPS30 | ||
| REACTOME: MRPS30 | ||
| Pathway Commons: MRPS30 | ||
| Context | iHOP: MRPS30 | |
| ligand binding site mutation search in PubMed: MRPS30 | ||
| UCL Cancer Institute: MRPS30 | ||
| 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 |
| Top |
| Ligand binding site mutations for MRPS30 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R222 | R222Q | BLCA | 1 | K85 | K85E | COAD | 1 | R313 | R313K | HNSC | 1 | W66 | Q67L | HNSC | 1 | R219 | R219C | STAD | 1 | R222 | R222Q | 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. |
| Top |
| Protein structure related information for MRPS30 |
| 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 |
 |
| 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 | R313 | R313K | -1.0214935 | K85 | K85E | -0.51611993 | R219 | R219C | -0.50724207 | R222 | R222Q | -0.48993944 | W66 | Q67L | -0.3066862 |
| (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 MRPS30 from PDB |
| Top |
| Differential gene expression and gene-gene network for MRPS30 |
| 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) |
| Top |
| Top |
| Phenotype information for MRPS30 |
| 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 |
| Top |
| Pharmacological information for MRPS30 |
| 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. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of MRPS30 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | s | W66 K85 R219 R222 R313 |
| Top |
| Conservation information for LBS of MRPS30 |
| Multiple alignments for Q9NP92 in multiple species |
| LBS | AA sequence | # species | Species | A49 | YPPIVASMTAD | 2 | Homo sapiens, Mus musculus | A49 | YPPIVASLTAD | 1 | Bos taurus | A53 | VASMTADSKAA | 2 | Homo sapiens, Mus musculus | A53 | VASLTADSKAA | 1 | Bos taurus | A57 | TADSKAARQRR | 2 | Mus musculus, Bos taurus | A57 | TADSKAARLRR | 1 | Homo sapiens | D54 | ASMTADSKAAR | 2 | Homo sapiens, Mus musculus | D54 | ASLTADSKAAR | 1 | Bos taurus | F274 | DKLPLFKRQYE | 2 | Homo sapiens, Bos taurus | F274 | DKLPLFRRQYE | 1 | Mus musculus | F88 | LTKMQFMKYMV | 1 | Homo sapiens | F88 | LTKMQFKKYVV | 1 | Mus musculus | F88 | LTKMQFMKYVV | 1 | Bos taurus | F98 | VYPQTFALNAD | 2 | Homo sapiens, Bos taurus | F98 | VHPQISALNAD | 1 | Mus musculus | G220 | EIIPRGHRRGR | 1 | Homo sapiens | G220 | ERIPAGHRKGH | 1 | Mus musculus | G220 | EIIPGGHRKGR | 1 | Bos taurus | H164 | RRRRVHRYEES | 1 | Homo sapiens | H164 | RRRPRSLFDRR | 1 | Mus musculus | H164 | RKKRAPIYQER | 1 | Bos taurus | H221 | IIPRGHRRGRI | 1 | Homo sapiens | H221 | RIPAGHRKGHI | 1 | Mus musculus | H221 | IIPGGHRKGRV | 1 | Bos taurus | I63 | ARLRRIERWQA | 1 | Homo sapiens | I63 | ARQRRVQRWQA | 1 | Mus musculus | I63 | ARQRRVERWQA | 1 | Bos taurus | I82 | DEKLRILTKMQ | 2 | Homo sapiens, Bos taurus | I82 | DEKIRILTKMQ | 1 | Mus musculus | K270 | KCKPDKLPLFK | 1 | Homo sapiens | K270 | KCKPDKLPLFR | 1 | Mus musculus | K270 | NCKPDKLPLFK | 1 | Bos taurus | K56 | MTADSKAARLR | 1 | Homo sapiens | K56 | MTADSKAARQR | 1 | Mus musculus | K56 | LTADSKAARQR | 1 | Bos taurus | K85 | LRILTKMQFMK | 2 | Homo sapiens, Bos taurus | K85 | IRILTKMQFKK | 1 | Mus musculus | M86 | RILTKMQFMKY | 2 | Homo sapiens, Bos taurus | M86 | RILTKMQFKKY | 1 | Mus musculus | M89 | TKMQFMKYMVY | 1 | Homo sapiens | M89 | TKMQFKKYVVH | 1 | Mus musculus | M89 | TKMQFMKYVVY | 1 | Bos taurus | P272 | KPDKLPLFKRQ | 2 | Homo sapiens, Bos taurus | P272 | KPDKLPLFRRQ | 1 | Mus musculus | Q277 | PLFKRQYENHI | 1 | Homo sapiens | Q277 | PLFRRQYENSI | 1 | Mus musculus | Q277 | PLFKRQYENAI | 1 | Bos taurus | Q87 | ILTKMQFMKYM | 1 | Homo sapiens | Q87 | ILTKMQFKKYV | 1 | Mus musculus | Q87 | ILTKMQFMKYV | 1 | Bos taurus | R160 | FYLRRRRRVHR | 1 | Homo sapiens | R160 | VYVRRRRPRSL | 1 | Mus musculus | R160 | FFLRRKKRAPI | 1 | Bos taurus | R162 | LRRRRRVHRYE | 1 | Homo sapiens | R162 | VRRRRPRSLFD | 1 | Mus musculus | R162 | LRRKKRAPIYQ | 1 | Bos taurus | R165 | RRRVHRYEESE | 1 | Homo sapiens | R165 | RRPRSLFDRRQ | 1 | Mus musculus | R165 | KKRAPIYQERY | 1 | Bos taurus | R219 | EEIIPRGHRRG | 1 | Homo sapiens | R219 | EERIPAGHRKG | 1 | Mus musculus | R219 | EEIIPGGHRKG | 1 | Bos taurus | R222 | IPRGHRRGRID | 1 | Homo sapiens | R222 | IPAGHRKGHID | 1 | Mus musculus | R222 | IPGGHRKGRVD | 1 | Bos taurus | R223 | PRGHRRGRIDD | 1 | Homo sapiens | R223 | PAGHRKGHIDA | 1 | Mus musculus | R223 | PGGHRKGRVDA | 1 | Bos taurus | R225 | GHRRGRIDDLR | 1 | Homo sapiens | R225 | GHRKGHIDALR | 1 | Mus musculus | R225 | GHRKGRVDAVR | 1 | Bos taurus | R310 | KLRRERLLRQN | 1 | Homo sapiens | R310 | RLKRERLIRQN | 1 | Mus musculus | R310 | KLKRERLLKQN | 1 | Bos taurus | R313 | RERLLRQNCAD | 1 | Homo sapiens | R313 | RERLIRQNQAE | 1 | Mus musculus | R313 | RERLLKQNCAD | 1 | Bos taurus | R59 | DSKAARLRRIE | 1 | Homo sapiens | R59 | DSKAARQRRVQ | 1 | Mus musculus | R59 | DSKAARQRRVE | 1 | Bos taurus | R62 | AARLRRIERWQ | 1 | Homo sapiens | R62 | AARQRRVQRWQ | 1 | Mus musculus | R62 | AARQRRVERWQ | 1 | Bos taurus | R65 | LRRIERWQATV | 1 | Homo sapiens | R65 | QRRVQRWQATV | 1 | Mus musculus | R65 | QRRVERWQATV | 1 | Bos taurus | R81 | VDEKLRILTKM | 2 | Homo sapiens, Bos taurus | R81 | VDEKIRILTKM | 1 | Mus musculus | S50 | PPIVASMTADS | 2 | Homo sapiens, Mus musculus | S50 | PPIVASLTADS | 1 | Bos taurus | S55 | SMTADSKAARL | 1 | Homo sapiens | S55 | SMTADSKAARQ | 1 | Mus musculus | S55 | SLTADSKAARQ | 1 | Bos taurus | T52 | IVASMTADSKA | 2 | Homo sapiens, Mus musculus | T52 | IVASLTADSKA | 1 | Bos taurus | T97 | MVYPQTFALNA | 1 | Homo sapiens | T97 | VVHPQISALNA | 1 | Mus musculus | T97 | VVYPQTFALNA | 1 | Bos taurus | W66 | RRIERWQATVH | 1 | Homo sapiens | W66 | RRVQRWQATVH | 1 | Mus musculus | W66 | RRVERWQATVH | 1 | Bos taurus | Y166 | RRVHRYEESEV | 1 | Homo sapiens | Y166 | RPRSLFDRRQA | 1 | Mus musculus | Y166 | KRAPIYQERYA | 1 | Bos taurus | Y94 | MKYMVYPQTFA | 1 | Homo sapiens | Y94 | KKYVVHPQISA | 1 | Mus musculus | Y94 | MKYVVYPQTFA | 1 | Bos taurus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |