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mutLBSgeneDB |
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| Gene summary for TPSAB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | TPSAB1 |
| Gene name | tryptase alpha/beta 1 | |
| Synonyms | TPS1|TPS2|TPSB1 | |
| Cytomap | UCSC genome browser: 16p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003294.3, | |
| Description | mast cell alpha II tryptasemast cell beta I tryptasetryptase Itryptase alpha IItryptase alpha-1tryptase alpha/beta-1tryptase beta 1tryptase beta Itryptase beta-1tryptase-1tryptase-Itryptase-III | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 191080 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000172236 | ||
| HPRD : 01848 | ||
| HPRD : 01849 | ||
| Vega : OTTHUMG00000090467 | ||
| Protein | UniProt: Q15661 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TPSAB1 | |
| BioGPS: 7177 | ||
| Pathway | NCI Pathway Interaction Database: TPSAB1 | |
| KEGG: TPSAB1 | ||
| REACTOME: TPSAB1 | ||
| Pathway Commons: TPSAB1 | ||
| Context | iHOP: TPSAB1 | |
| ligand binding site mutation search in PubMed: TPSAB1 | ||
| UCL Cancer Institute: TPSAB1 | ||
| 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 |
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| Ligand binding site mutations for TPSAB1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A85 | A85T | BRCA | 2 | V50 | R49T | BLCA | 1 | V50 | H51R | LUAD | 1 | F58 | G60R | 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 TPSAB1 |
| 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 |
| (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 TPSAB1 from PDB |
| PDB ID | PDB title | PDB structure | 1LTO | Human alpha1-tryptase |  |
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| Differential gene expression and gene-gene network for TPSAB1 |
| 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 TPSAB1 |
| 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 TPSAB1 |
| 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 |
| Experimental | DB06848 | 1-(1'-{[3-(methylsulfanyl)-2-benzothiophen-1-yl]carbonyl}spiro[1-benzofuran-3,4'-piperidin]-5-yl)methanamine | Small molecule |  |
| Experimental | DB06849 | 1-[1'-(3-phenylacryloyl)spiro[1-benzofuran-3,4'-piperidin]-5-yl]methanamine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of TPSAB1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of TPSAB1 |
| Multiple alignments for Q15661 in multiple species |
| LBS | AA sequence | # species | Species |
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