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mutLBSgeneDB |
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| Gene summary for BST1 |
 Gene summary |
| Basic gene Info. | Gene symbol | BST1 |
| Gene name | bone marrow stromal cell antigen 1 | |
| Synonyms | CD157 | |
| Cytomap | UCSC genome browser: 4p15 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004334.2, | |
| Description | ADP-ribosyl cyclase 2ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2BST-1NAD(+) nucleosidasebone marrow stromal antigen 1cADPr hydrolase 2cyclic ADP-ribose hydrolase 2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600387 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000109743 | ||
| HPRD : 02665 | ||
| Vega : OTTHUMG00000097739 | ||
| Protein | UniProt: Q10588 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BST1 | |
| BioGPS: 683 | ||
| Pathway | NCI Pathway Interaction Database: BST1 | |
| KEGG: BST1 | ||
| REACTOME: BST1 | ||
| Pathway Commons: BST1 | ||
| Context | iHOP: BST1 | |
| ligand binding site mutation search in PubMed: BST1 | ||
| UCL Cancer Institute: BST1 | ||
| 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 |
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| Ligand binding site mutations for BST1 |
| 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 | W143 | R145G | HNSC | 1 | E210 | P212L | SKCM | 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 BST1 |
| 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 | E210 | P212L | 0.049089483 | W143 | R145G | -1.3231481 |
| (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 BST1 from PDB |
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| Differential gene expression and gene-gene network for BST1 |
| 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 BST1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0030567 | Parkinson Disease | 4 | Biomarker, GeneticVariation |
| umls:C0024115 | Lung Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BST1 |
| 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 | DB01660 | Adenosine-5'-Diphosphate Monothiophosphate | Small molecule |  |
| Experimental | DB02483 | Etheno-Nad | Small molecule |  |
| Approved | DB02701 | Nicotinamide | Small molecule |  |
| Experimental | DB03227 | Nicotinamide Mononucleotide | Small molecule |  |
| Experimental | DB03732 | Etheno-Nadp | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of BST1 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 BST1 |
| Multiple alignments for Q10588 in multiple species |
| LBS | AA sequence | # species | Species | A138 | LYGKVGDFLSW | 2 | Mus musculus, Rattus norvegicus | A138 | LYGRVADFLSW | 1 | Homo sapiens | D139 | YGKVGDFLSWC | 2 | Mus musculus, Rattus norvegicus | D139 | YGRVADFLSWC | 1 | Homo sapiens | D169 | ENNPVDSFWKR | 1 | Homo sapiens | D169 | ENNAVDSYWKS | 1 | Mus musculus | D169 | ENNAVDAYWKS | 1 | Rattus norvegicus | E110 | KSLFWENNHLL | 2 | Mus musculus, Rattus norvegicus | E110 | KSLFWENSHLL | 1 | Homo sapiens | E210 | FFADFEIPYLQ | 2 | Mus musculus, Rattus norvegicus | E210 | FFADYEIPNLQ | 1 | Homo sapiens | E37 | ARWRGEGTSAH | 1 | Homo sapiens | E37 | ARWRGEGTTPH | 1 | Mus musculus | E37 | ARWSGEGTTPH | 1 | Rattus norvegicus | F108 | RDKSLFWENNH | 2 | Mus musculus, Rattus norvegicus | F108 | RDKSLFWENSH | 1 | Homo sapiens | F140 | GKVGDFLSWCR | 2 | Mus musculus, Rattus norvegicus | F140 | GRVADFLSWCR | 1 | Homo sapiens | F205 | YPIKGFFADYE | 1 | Homo sapiens | F205 | YPTRGFFADFE | 1 | Mus musculus | F205 | YPTKGFFADFE | 1 | Rattus norvegicus | F206 | PIKGFFADYEI | 1 | Homo sapiens | F206 | PTRGFFADFEI | 1 | Mus musculus | F206 | PTKGFFADFEI | 1 | Rattus norvegicus | H113 | FWENNHLLVMS | 2 | Mus musculus, Rattus norvegicus | H113 | FWENSHLLVNS | 1 | Homo sapiens | L129 | RRFMPLSDVLY | 1 | Homo sapiens | L129 | RRLVALCDVLY | 1 | Mus musculus | L129 | RRLMPLCDVLY | 1 | Rattus norvegicus | L141 | KVGDFLSWCRQ | 2 | Mus musculus, Rattus norvegicus | L141 | RVADFLSWCRQ | 1 | Homo sapiens | N111 | SLFWENNHLLV | 2 | Mus musculus, Rattus norvegicus | N111 | SLFWENSHLLV | 1 | Homo sapiens | S112 | LFWENNHLLVM | 2 | Mus musculus, Rattus norvegicus | S112 | LFWENSHLLVN | 1 | Homo sapiens | S130 | RFMPLSDVLYG | 1 | Homo sapiens | S130 | RLVALCDVLYG | 1 | Mus musculus | S130 | RLMPLCDVLYG | 1 | Rattus norvegicus | S176 | YWKSASMQYSR | 2 | Mus musculus, Rattus norvegicus | S176 | FWKRASIQYSK | 1 | Homo sapiens | V168 | CENNPVDSFWK | 1 | Homo sapiens | V168 | CENNAVDSYWK | 1 | Mus musculus | V168 | CENNAVDAYWK | 1 | Rattus norvegicus | W109 | DKSLFWENNHL | 2 | Mus musculus, Rattus norvegicus | W109 | DKSLFWENSHL | 1 | Homo sapiens | W143 | GDFLSWCRQEN | 2 | Mus musculus, Rattus norvegicus | W143 | ADFLSWCRQKN | 1 | Homo sapiens | W172 | PVDSFWKRASI | 1 | Homo sapiens | W172 | AVDSYWKSASM | 1 | Mus musculus | W172 | AVDAYWKSASM | 1 | Rattus norvegicus |
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