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mutLBSgeneDB |
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| 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. |
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| 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 |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| 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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