mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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	Gene Summary
	Ligand Binding Site Mutation Information
	Protein Structure Related Information
	Gene Expression and Gene-Gene Network
	Phenotype Information
	Pharmacological Information
	Conservation Information for LBS

Gene summary for MRPL43

Gene summary

Basic gene Info.	Gene symbol	MRPL43
	Gene name	mitochondrial ribosomal protein L43
	Synonyms	bMRP36a
	Cytomap	UCSC genome browser: 10q24.31
	Type of gene	protein-coding
	RefGenes	NM_032112.2, NM_176792.2,NM_176793.1,NM_176794.1,
	Description	39S ribosomal protein L43, mitochondrialL43mtMRP-L43mitochondrial ribosomal protein bMRP36a
	Modification date	20141207
dbXrefs	MIM : 611848
	HGNC : HGNC
	Ensembl : ENSG00000055950
	HPRD : 14762
	Vega : OTTHUMG00000018920
Protein	UniProt: Q8N983 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_MRPL43
	BioGPS: 84545
Pathway	NCI Pathway Interaction Database: MRPL43
	KEGG: MRPL43
	REACTOME: MRPL43
	Pathway Commons: MRPL43
Context	iHOP: MRPL43
	ligand binding site mutation search in PubMed: MRPL43
	UCL Cancer Institute: MRPL43
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 MRPL43

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
S39	R41L	STAD	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 MRPL43

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
S39	R41L	-0.088427861

(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 MRPL43 from PDB

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Differential gene expression and gene-gene network for MRPL43

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)

* Left PPI network was created from samples with mutations in the LBS of MRPL43 and the right PPI network was created from samples without mutations in the LBS of MRPL43. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

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Phenotype information for MRPL43

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