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mutLBSgeneDB |
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| Gene summary for NBR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | NBR1 |
| Gene name | neighbor of BRCA1 gene 1 | |
| Synonyms | 1A1-3B|IAI3B|M17S2 | |
| Cytomap | UCSC genome browser: 17q21.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001291571.1, NM_001291572.1,NM_005899.4,NM_031862.3,NM_031858.2, | |
| Description | B-box proteincell migration-inducing gene 19 proteinmembrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)migration-inducing protein 19next to BRCA1 gene 1 protein | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 166945 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000188554 | ||
| HPRD : 01326 | ||
| Vega : OTTHUMG00000180878 | ||
| Protein | UniProt: Q14596 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NBR1 | |
| BioGPS: 4077 | ||
| Pathway | NCI Pathway Interaction Database: NBR1 | |
| KEGG: NBR1 | ||
| REACTOME: NBR1 | ||
| Pathway Commons: NBR1 | ||
| Context | iHOP: NBR1 | |
| ligand binding site mutation search in PubMed: NBR1 | ||
| UCL Cancer Institute: NBR1 | ||
| 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 | GO:0016236 | macroautophagy | 19250911 | GO:0051259 | protein oligomerization | 19250911 |
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| Ligand binding site mutations for NBR1 |
| 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 | I44 | Q45E | BLCA | 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 NBR1 |
| 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 | I44 | Q45E | -0.93387541 |
| (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 NBR1 from PDB |
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| Differential gene expression and gene-gene network for NBR1 |
| 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 NBR1 |
| 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 NBR1 |
| 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 NBR1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CL | CHLORIDE | 2g4s | A | I44 |
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| Conservation information for LBS of NBR1 |
| Multiple alignments for Q14596 in multiple species |
| LBS | AA sequence | # species | Species | E24 | LVSDPENTTWA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E65 | SQGEYEEALKM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I44 | FDLNTIQIKYL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K36 | VEAMVKVSFDL | 2 | Mus musculus, Rattus norvegicus | K36 | IEAMVKVSFDL | 1 | Homo sapiens | L68 | EYEEALKMANI | 2 | Mus musculus, Rattus norvegicus | L68 | EYEEALKMA-V | 1 | Homo sapiens | P23 | FLVSDPENTTW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q61 | ISINSQGEYEE | 2 | Mus musculus, Rattus norvegicus | Q61 | VSINSQGEYEE | 1 | Homo sapiens | T26 | SDPENTTWADV | 2 | Mus musculus, Rattus norvegicus | T26 | SDPENTTWADI | 1 | Homo sapiens | T43 | SFDLNTIQIKY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y64 | NSQGEYEEALK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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