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mutLBSgeneDB |
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| Gene summary for BPNT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | BPNT1 |
| Gene name | 3'(2'), 5'-bisphosphate nucleotidase 1 | |
| Synonyms | HEL20|PIP | |
| Cytomap | UCSC genome browser: 1q41 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001286149.1, NM_001286150.1,NM_001286151.1,NM_006085.5, | |
| Description | 3'(2'),5'-bisphosphate nucleotidase 1BPntasePAP-inositol 1,4-phosphatasePAP-inositol-1,4-phosphatasebisphosphate 3'-nucleotidase 1epididymis luminal protein 20 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604053 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000162813 | ||
| HPRD : 06814 | ||
| Vega : OTTHUMG00000037435 | ||
| Protein | UniProt: O95861 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BPNT1 | |
| BioGPS: 10380 | ||
| Pathway | NCI Pathway Interaction Database: BPNT1 | |
| KEGG: BPNT1 | ||
| REACTOME: BPNT1 | ||
| Pathway Commons: BPNT1 | ||
| Context | iHOP: BPNT1 | |
| ligand binding site mutation search in PubMed: BPNT1 | ||
| UCL Cancer Institute: BPNT1 | ||
| 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 BPNT1 |
| 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 | D117,L119 | P118S | BRCA | 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 BPNT1 |
| 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 | L119 | P118S | -0.89209448 | D117 | P118S | -0.89209448 |
| (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 BPNT1 from PDB |
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| Differential gene expression and gene-gene network for BPNT1 |
| 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 BPNT1 |
| 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 BPNT1 |
| 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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| 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 BPNT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MG | MAGNESIUM(2+) | 2wef | A | D117 | MG | MAGNESIUM(2+) | 2wef | A | D117 L119 |
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| Conservation information for LBS of BPNT1 |
| Multiple alignments for O95861 in multiple species |
| LBS | AA sequence | # species | Species | D117 | LVVWVDPLDGT | 3 | Homo sapiens, Bos taurus, Mus musculus | D117 | LVVWVDPVDGT | 1 | Rattus norvegicus | E74 | LTIIGEEDLPP | 3 | Bos taurus, Mus musculus, Rattus norvegicus | E74 | LTIIGEEDLPS | 1 | Homo sapiens | L119 | VWVDPLDGTKE | 3 | Homo sapiens, Bos taurus, Mus musculus | L119 | VWVDPVDGTKE | 1 | Rattus norvegicus |
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