mutLBSgeneDB |
Gene summary for BMX |
Gene summary |
Basic gene Info. | Gene symbol | BMX |
Gene name | BMX non-receptor tyrosine kinase | |
Synonyms | ETK|PSCTK2|PSCTK3 | |
Cytomap | UCSC genome browser: Xp22.2 | |
Type of gene | protein-coding | |
RefGenes | NM_001721.6, NM_203281.2, | |
Description | BTK-like on X chromosomeEtk/Bmx cytosolic tyrosine kinaseNTK38 tyrosine kinasebone marrow tyrosine kinase gene in chromosome X proteincytoplasmic tyrosine-protein kinase BMXepithelial and endothelial tyrosine kinase | |
Modification date | 20141207 | |
dbXrefs | MIM : 300101 | |
HGNC : HGNC | ||
Ensembl : ENSG00000102010 | ||
HPRD : 02111 | ||
Vega : OTTHUMG00000021180 | ||
Protein | UniProt: P51813 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_BMX | |
BioGPS: 660 | ||
Pathway | NCI Pathway Interaction Database: BMX | |
KEGG: BMX | ||
REACTOME: BMX | ||
Pathway Commons: BMX | ||
Context | iHOP: BMX | |
ligand binding site mutation search in PubMed: BMX | ||
UCL Cancer Institute: BMX | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0007165 | signal transduction | 10688651 | GO:0046777 | protein autophosphorylation | 11331870 |
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Ligand binding site mutations for BMX |
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 | I487 | Y486H | LUAD | 1 | S425,L423 | G424E | SKCM | 1 | V473 | F475L | 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 BMX |
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 | I487 | Y486H | -1.452002 | V473 | F475L | -1.3006838 | S425 | G424E | -0.35890352 | L423 | G424E | -0.35890352 |
(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 BMX from PDB |
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Differential gene expression and gene-gene network for BMX |
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 BMX |
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 BMX |
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. |
Gene-centered drug-gene interaction network |
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 BMX go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PP2 | 1-TERT-BUTYL-3-(4-CHLORO-PHENYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-4-YLAMINE | 3sxs | A | L423 S425 I487 | 1N1 | DASATINIB | 3sxr | A | L423 V473 I487 | 1N1 | DASATINIB | 3sxr | B | L423 V473 I487 |
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Conservation information for LBS of BMX |
Multiple alignments for P51813 in multiple species |
LBS | AA sequence | # species | Species |
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