mutLBSgeneDB |
Gene summary for RBMX |
Gene summary |
Basic gene Info. | Gene symbol | RBMX |
Gene name | RNA binding motif protein, X-linked | |
Synonyms | HNRNPG|HNRPG|RBMXP1|RBMXRT|RNMX|hnRNP-G | |
Cytomap | UCSC genome browser: Xq26.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001164803.1, NM_002139.3,NR_028476.1,NR_028477.1, | |
Description | RNA binding motif protein, X chromosomeRNA-binding motif protein, X chromosomeglycoprotein p43heterogeneous nuclear ribonucleoprotein GhnRNP G | |
Modification date | 20141207 | |
dbXrefs | MIM : 300199 | |
HGNC : HGNC | ||
Ensembl : ENSG00000147274 | ||
HPRD : 02186 | ||
Vega : OTTHUMG00000022517 | ||
Protein | UniProt: P38159 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RBMX | |
BioGPS: 27316 | ||
Pathway | NCI Pathway Interaction Database: RBMX | |
KEGG: RBMX | ||
REACTOME: RBMX | ||
Pathway Commons: RBMX | ||
Context | iHOP: RBMX | |
ligand binding site mutation search in PubMed: RBMX | ||
UCL Cancer Institute: RBMX | ||
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 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 12165565 | GO:0001649 | osteoblast differentiation | 16210410 | GO:0006366 | transcription from RNA polymerase II promoter | 21327109 | GO:0006509 | membrane protein ectodomain proteolysis | 18445477 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 18541147 | GO:0071347 | cellular response to interleukin-1 | 18445477 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | D5 | D5E | GBM | 1 | D5 | D5Y | LAML | 1 | M40 | M40I | LUSC | 1 | K9 | G8V | LUSC | 1 | F53,F51 | A52D | UCEC | 1 | D5 | E3G | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | M40 | M40I | -1.1601826 | D5 | E3G | -0.801607 | D5 | D5Y | -0.66713807 | F51 | A52D | -0.57797673 | F53 | A52D | -0.57797673 | D5 | D5E | -0.5742258 | K9 | G8V | -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) |
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Phenotype information for RBMX |
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 RBMX |
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 RBMX go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2mb0 | B | D5 K9 M40 F51 F53 |
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Conservation information for LBS of RBMX |
Multiple alignments for P38159 in multiple species |
LBS | AA sequence | # species | Species | A78 | SLDGKAIKVEQ | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | A78 | PLDGKPIKVEQ | 1 | Danio rerio | D5 | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | E82 | KAIKVEQATKP | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | E82 | KPIKVEQATKP | 1 | Danio rerio | F11 | RPGKLFIGGLN | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | F51 | NKSRGFAFVTF | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | F51 | NKSRGFAFVTY | 1 | Danio rerio | F53 | SRGFAFVTFES | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | F53 | SRGFAFVTYEN | 1 | Danio rerio | F89 | ATKPSFE-SGR | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | F89 | ATKPQFETSGR | 1 | Danio rerio | G14 | KLFIGGLNTET | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | I79 | LDGKAIKVEQA | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | I79 | LDGKPIKVEQA | 1 | Danio rerio | K80 | DGKAIKVEQAT | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | K80 | DGKPIKVEQAT | 1 | Danio rerio | K86 | VEQATKPSFE- | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | K86 | VEQATKPQFET | 1 | Danio rerio | K9 | ADRPGKLFIGG | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | L38 | RIVEVLLMKDR | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | L38 | RISEVLLMKDR | 1 | Danio rerio | M40 | VEVLLMKDRET | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | M40 | SEVLLMKDRET | 1 | Danio rerio | P87 | EQATKPSFE-S | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | P87 | EQATKPQFETS | 1 | Danio rerio | Q83 | AIKVEQATKPS | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | Q83 | PIKVEQATKPQ | 1 | Danio rerio | R49 | ETNKSRGFAFV | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | S88 | QATKPSFE-SG | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | S88 | QATKPQFETSG | 1 | Danio rerio | T85 | KVEQATKPSFE | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | T85 | KVEQATKPQFE | 1 | Danio rerio |
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