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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for BLVRA |
Basic gene info. | Gene symbol | BLVRA |
Gene name | biliverdin reductase A | |
Synonyms | BLVR|BVR|BVRA | |
Cytomap | UCSC genome browser: 7p13 | |
Genomic location | chr7 :43798271-43846941 | |
Type of gene | protein-coding | |
RefGenes | NM_000712.3, NM_001253823.1, | |
Ensembl id | ENSG00000106605 | |
Description | BVR Abiliverdin-IX alpha-reductase | |
Modification date | 20141207 | |
dbXrefs | MIM : 109750 | |
HGNC : HGNC | ||
Ensembl : ENSG00000106605 | ||
HPRD : 11229 | ||
Vega : OTTHUMG00000128953 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_BLVRA | |
BioGPS: 644 | ||
Gene Expression Atlas: ENSG00000106605 | ||
The Human Protein Atlas: ENSG00000106605 | ||
Pathway | NCI Pathway Interaction Database: BLVRA | |
KEGG: BLVRA | ||
REACTOME: BLVRA | ||
ConsensusPathDB | ||
Pathway Commons: BLVRA | ||
Metabolism | MetaCyc: BLVRA | |
HUMANCyc: BLVRA | ||
Regulation | Ensembl's Regulation: ENSG00000106605 | |
miRBase: chr7 :43,798,271-43,846,941 | ||
TargetScan: NM_000712 | ||
cisRED: ENSG00000106605 | ||
Context | iHOP: BLVRA | |
cancer metabolism search in PubMed: BLVRA | ||
UCL Cancer Institute: BLVRA | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for BLVRA(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: BLVRA |
Familial Cancer Database: BLVRA |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM REACTOME_METABOLISM_OF_PORPHYRINS |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: BLVRA |
MedGen: BLVRA (Human Medical Genetics with Condition) | |
ClinVar: BLVRA | |
Phenotype | MGI: BLVRA (International Mouse Phenotyping Consortium) |
PhenomicDB: BLVRA |
Mutations for BLVRA |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows BLVRA related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BF744129 | TMEM117 | 1 | 419 | 12 | 44488334 | 44488753 | BLVRA | 411 | 537 | 7 | 43807329 | 43807455 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 2 |   |   | 1 |   | 1 |   |   |   |   |   |   |   | 1 | 1 |   |   | |||
GAIN (# sample) | 2 |   |   | 1 |   |   |   |   |   |   |   |   |   | 1 | 1 |   |   | |||
LOSS (# sample) |   |   |   |   |   | 1 |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=26) | (# total SNVs=7) |
(# total SNVs=0) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr7:43827515-43827515 | p.F9V | 2 |
chr7:43846600-43846600 | p.K219N | 2 |
chr7:43827621-43827621 | p.S44L | 2 |
chr7:43840110-43840110 | p.F133F | 2 |
chr7:43810777-43810777 | p.? | 2 |
chr7:43827504-43827504 | p.P5L | 2 |
chr7:43846588-43846588 | p.W215C | 1 |
chr7:43830958-43830958 | p.D82G | 1 |
chr7:43846778-43846778 | p.L279L | 1 |
chr7:43843318-43843318 | p.S168S | 1 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 1 |   |   | 6 |   |   | 2 |   |   |   |   | 2 | 3 |   |   |   | 4 | 3 |   | 3 |
# mutation | 1 |   |   | 4 |   |   | 2 |   |   |   |   | 2 | 3 |   |   |   | 4 | 6 |   | 3 |
nonsynonymous SNV | 1 |   |   | 1 |   |   | 2 |   |   |   |   | 2 | 2 |   |   |   | 2 | 3 |   | 1 |
synonymous SNV |   |   |   | 3 |   |   |   |   |   |   |   |   | 1 |   |   |   | 2 | 3 |   | 2 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr7:43827613 | p.S44L,BLVRA | 2 |
chr7:43840110 | p.F133F,BLVRA | 2 |
chr7:43827621 | p.G41G,BLVRA | 2 |
chr7:43846778 | p.N226H,BLVRA | 1 |
chr7:43827616 | p.D61G,BLVRA | 1 |
chr7:43840132 | p.G236W,BLVRA | 1 |
chr7:43846819 | p.V70V,BLVRA | 1 |
chr7:43843318 | p.S267F,BLVRA | 1 |
chr7:43830895 | p.D82G,BLVRA | 1 |
chr7:43843400 | p.R277C,BLVRA | 1 |
Other DBs for Point Mutations |
Copy Number for BLVRA in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, 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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Gene Expression for BLVRA |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
BLOC1S1,BLVRA,BLVRB,C12orf10,IFT43,COA1,CHCHD5, ECI1,DDX56,MRPL32,NDUFA2,NUDT18,POLD4,PSME1, RNF181,SERPINB6,SIL1,SNRNP35,SURF1,TMEM205,TP53TG1 | ACP2,BLVRA,BLVRB,CD63,DHRSX,DOLK,LASP1, LOC729991,MTX1,MYL6,POLR2L,POP4,POR,RER1, LAMTOR2,SAE1,SIL1,SNF8,SNX17,TMEM53,TSPAN15 | ||||
APOL2,B2M,BLVRA,CAPG,CCDC109B,CD74,CTSW, GBP1,HAPLN3,HLA-DRA,HLA-DRB6,IFI16,AGAP2-AS1,MAPK11, NAGK,ODF3B,PML,TNFAIP8,TRIM22,UBE2L6,USP18 | AP1S2,BLVRA,FAM229B,DUSP22,EIF5A2,FAM195B,FEZ1, GNB4,GUCY1B3,LOC399959,LOC653653,NME4,PLEKHO1,RAB23, RAB31,IFT22,RHOQ,RND2,SELM,TCEAL7,ZNF25 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for BLVRA |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00157 | biliverdin reductase A | approved; nutraceutical | NADH | ||
DB01907 | biliverdin reductase A | experimental | Nicotinamide-Adenine-Dinucleotide |
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Cross referenced IDs for BLVRA |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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