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 RBMX
Gene summary
Basic gene Info.Gene symbolRBMX
Gene nameRNA binding motif protein, X-linked
SynonymsHNRNPG|HNRPG|RBMXP1|RBMXRT|RNMX|hnRNP-G
CytomapUCSC genome browser: Xq26.3
Type of geneprotein-coding
RefGenesNM_001164803.1,
NM_002139.3,NR_028476.1,NR_028477.1,
DescriptionRNA binding motif protein, X chromosomeRNA-binding motif protein, X chromosomeglycoprotein p43heterogeneous nuclear ribonucleoprotein GhnRNP G
Modification date20141207
dbXrefs MIM : 300199
HGNC : HGNC
Ensembl : ENSG00000147274
HPRD : 02186
Vega : OTTHUMG00000022517
ProteinUniProt: P38159
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RBMX
BioGPS: 27316
PathwayNCI Pathway Interaction Database: RBMX
KEGG: RBMX
REACTOME: RBMX
Pathway Commons: RBMX
ContextiHOP: RBMX
ligand binding site mutation search in PubMed: RBMX
UCL Cancer Institute: RBMX
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0000381regulation of alternative mRNA splicing, via spliceosome12165565
GO:0001649osteoblast differentiation16210410
GO:0006366transcription from RNA polymerase II promoter21327109
GO:0006509membrane protein ectodomain proteolysis18445477
GO:0045944positive regulation of transcription from RNA polymerase II promoter18541147
GO:0071347cellular response to interleukin-118445477


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Ligand binding site mutations for RBMX
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D5D5EGBM1
D5D5YLAML1
M40M40ILUSC1
K9G8VLUSC1
F53,F51A52DUCEC1
D5E3GUCEC1
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 RBMX
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.
LBSAAchange of nsSNVRelative stability change
M40M40I-1.1601826
D5E3G-0.801607
D5D5Y-0.66713807
F51A52D-0.57797673
F53A52D-0.57797673
D5D5E-0.5742258
K9G8V-0.024664764
(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 RBMX from PDB

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Differential gene expression and gene-gene network for RBMX
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 RBMX and the right PPI network was created from samples without mutations in the LBS of RBMX. 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 RBMX
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for RBMX
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RBMX go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids2mb0BD5 K9 M40 F51 F53


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Conservation information for LBS of RBMX
Multiple alignments for P38159 in multiple species
LBSAA sequence# speciesSpecies
A78SLDGKAIKVEQ4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
A78PLDGKPIKVEQ1Danio rerio
D55Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
E82KAIKVEQATKP4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
E82KPIKVEQATKP1Danio rerio
F11RPGKLFIGGLN5Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
F51NKSRGFAFVTF4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
F51NKSRGFAFVTY1Danio rerio
F53SRGFAFVTFES4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
F53SRGFAFVTYEN1Danio rerio
F89ATKPSFE-SGR4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
F89ATKPQFETSGR1Danio rerio
G14KLFIGGLNTET5Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
I79LDGKAIKVEQA4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
I79LDGKPIKVEQA1Danio rerio
K80DGKAIKVEQAT4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
K80DGKPIKVEQAT1Danio rerio
K86VEQATKPSFE-4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
K86VEQATKPQFET1Danio rerio
K9ADRPGKLFIGG5Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
L38RIVEVLLMKDR4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
L38RISEVLLMKDR1Danio rerio
M40VEVLLMKDRET4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
M40SEVLLMKDRET1Danio rerio
P87EQATKPSFE-S4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
P87EQATKPQFETS1Danio rerio
Q83AIKVEQATKPS4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
Q83PIKVEQATKPQ1Danio rerio
R49ETNKSRGFAFV5Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus
S88QATKPSFE-SG4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
S88QATKPQFETSG1Danio rerio
T85KVEQATKPSFE4Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus
T85KVEQATKPQFE1Danio rerio


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