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mutLBSgeneDB |
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| Gene summary for BLVRA |
 Gene summary |
| Basic gene Info. | Gene symbol | BLVRA |
| Gene name | biliverdin reductase A | |
| Synonyms | BLVR|BVR|BVRA | |
| Cytomap | UCSC genome browser: 7p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000712.3, NM_001253823.1, | |
| Description | BVR Abiliverdin-IX alpha-reductase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 109750 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000106605 | ||
| HPRD : 11229 | ||
| Vega : OTTHUMG00000128953 | ||
| Protein | UniProt: P53004 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BLVRA | |
| BioGPS: 644 | ||
| Pathway | NCI Pathway Interaction Database: BLVRA | |
| KEGG: BLVRA | ||
| REACTOME: BLVRA | ||
| Pathway Commons: BLVRA | ||
| Context | iHOP: BLVRA | |
| ligand binding site mutation search in PubMed: BLVRA | ||
| UCL Cancer Institute: BLVRA | ||
| 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:0055114 | oxidation-reduction process | 10858451 |
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| Ligand binding site mutations for BLVRA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S44 | S44L | COAD | 2 | H80 | D82G | BLCA | 1 | E97 | L95F | 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 BLVRA |
| 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 | S44 | S44L | 0.38182262 | H80 | D82G | -1.6344016 | E97 | L95F | -1.047385 |
| (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 BLVRA from PDB |
| PDB ID | PDB title | PDB structure | 2H63 | Crystal Structure of Human Biliverdin Reductase A (CASP Target) |  |
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| Differential gene expression and gene-gene network for BLVRA |
| 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 BLVRA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0008370 | Cholestasis | 1 | Biomarker |
| umls:C3279964 | HYPERBILIVERDINEMIA | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BLVRA |
| 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 |
| Nutraceutical | DB00157 | NADH | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of BLVRA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAP | NADP ZWITTERION | 2h63 | A | S44 H80 E97 | NAP | NADP ZWITTERION | 2h63 | B | S44 H80 E97 | NAP | NADP ZWITTERION | 2h63 | C | S44 H80 E97 | NAP | NADP ZWITTERION | 2h63 | D | S44 H80 E97 |
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| Conservation information for LBS of BLVRA |
| Multiple alignments for P53004 in multiple species |
| LBS | AA sequence | # species | Species | A19 | VGVGRAGSVRM | 1 | Homo sapiens | A19 | VGVGRAGSVRI | 1 | Mus musculus | A19 | VGVGRAGSVRL | 1 | Rattus norvegicus | C74 | EVAYICSESSS | 1 | Homo sapiens | C74 | DVAYICTESSS | 1 | Mus musculus | C74 | DVAYICSESSS | 1 | Rattus norvegicus | E124 | KVLHEEHVELL | 1 | Homo sapiens | E124 | RVLHEEHIELL | 1 | Mus musculus | E124 | RVLHEEHVELL | 1 | Rattus norvegicus | E97 | KHVLVEYPMTL | 2 | Homo sapiens, Rattus norvegicus | E97 | KHVLVEYPMAL | 1 | Mus musculus | F162 | LEEERFGFPAF | 2 | Homo sapiens, Rattus norvegicus | F162 | LEEEKFGFPAF | 1 | Mus musculus | G15 | GVVVVGVGRAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G17 | VVVGVGRAGSV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H80 | SESSSHEDYIR | 2 | Homo sapiens, Rattus norvegicus | H80 | TESSSHEDYIR | 1 | Mus musculus | R18 | VVGVGRAGSVR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R45 | IGFVSRRELGS | 2 | Homo sapiens, Rattus norvegicus | R45 | IGYVSRRELGS | 1 | Mus musculus | R46 | GFVSRRELGSI | 1 | Homo sapiens | R46 | GYVSRRELGSL | 1 | Mus musculus | R46 | GFVSRRELGSL | 1 | Rattus norvegicus | S44 | LIGFVSRRELG | 2 | Homo sapiens, Rattus norvegicus | S44 | LIGYVSRRELG | 1 | Mus musculus | S75 | VAYICSESSSH | 2 | Homo sapiens, Rattus norvegicus | S75 | VAYICTESSSH | 1 | Mus musculus | S77 | YICSESSSHED | 2 | Homo sapiens, Rattus norvegicus | S77 | YICTESSSHED | 1 | Mus musculus | V16 | VVVVGVGRAGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y98 | HVLVEYPMTLS | 2 | Homo sapiens, Rattus norvegicus | Y98 | HVLVEYPMALS | 1 | Mus musculus |
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