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GeneBe

BLVRB

biliverdin reductase B, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 19:40447764-40465764

Previous symbols: [ "FLR" ]

Links

ENSG00000090013NCBI:645OMIM:600941HGNC:1063Uniprot:P30043AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BLVRB gene.

  • Inborn genetic diseases (12 variants)
  • not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BLVRB gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
clinvar
2
missense
12
clinvar
2
clinvar
14
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 12 3 1

Variants in BLVRB

This is a list of pathogenic ClinVar variants found in the BLVRB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
19-40447951-G-A Inborn genetic diseases Uncertain significance (Mar 23, 2022)2208681
19-40447984-T-C Inborn genetic diseases Uncertain significance (Sep 06, 2022)2367460
19-40447988-C-A Inborn genetic diseases Uncertain significance (Feb 27, 2023)2470336
19-40451409-G-C Likely benign (Jun 20, 2018)709797
19-40451426-C-T Inborn genetic diseases Uncertain significance (Mar 28, 2022)2360702
19-40451463-G-A Inborn genetic diseases Uncertain significance (Nov 29, 2021)2268463
19-40451486-A-G Inborn genetic diseases Uncertain significance (Jun 27, 2022)2363569
19-40458215-G-A Inborn genetic diseases Uncertain significance (Aug 17, 2022)2308376
19-40458221-C-T Inborn genetic diseases Uncertain significance (Oct 26, 2022)2320565
19-40458237-C-G Benign (Jul 23, 2018)784395
19-40458392-C-T Inborn genetic diseases Uncertain significance (Aug 22, 2022)2308732
19-40458447-C-T Inborn genetic diseases Uncertain significance (Nov 10, 2022)2404577
19-40458478-G-A Likely benign (Dec 31, 2019)710783
19-40458488-C-T Likely benign (Dec 31, 2019)709682
19-40465624-T-C Inborn genetic diseases Uncertain significance (Nov 07, 2022)2372133
19-40465661-C-G Inborn genetic diseases Uncertain significance (Apr 25, 2023)2540394

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BLVRBprotein_codingprotein_codingENST00000263368 518052
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000004190.22812563711011257390.000406
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4521141280.8880.000007671280
Missense in Polyphen3744.6410.82883490
Synonymous0.7525158.30.8750.00000380449
Loss of Function-0.11187.671.044.25e-783

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008020.000736
Ashkenazi Jewish0.002200.00218
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0001210.000114
Middle Eastern0.000.00
South Asian0.001750.00163
Other0.0006610.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: Broad specificity oxidoreductase that catalyzes the NADPH-dependent reduction of a variety of flavins, such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin. {ECO:0000269|PubMed:10620517}.;
Pathway
Riboflavin metabolism - Homo sapiens (human);Porphyrin and chlorophyll metabolism - Homo sapiens (human);Methylene Blue Pathway, Pharmacodynamics;Nuclear Receptors Meta-Pathway;NRF2 pathway;il-10 anti-inflammatory signaling pathway;heme degradation;Heme degradation;Metabolism of porphyrins;Metabolism (Consensus)

Recessive Scores

pRec
0.242

Intolerance Scores

loftool
0.756
rvis_EVS
0.31
rvis_percentile_EVS
72.38

Haploinsufficiency Scores

pHI
0.168
hipred
N
hipred_score
0.279
ghis
0.474

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.917

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Blvrb
Phenotype
homeostasis/metabolism phenotype;

Gene ontology

Biological process
heme catabolic process;oxidation-reduction process
Cellular component
nucleoplasm;cytosol;plasma membrane;terminal bouton;extracellular exosome
Molecular function
biliverdin reductase activity;riboflavin reductase (NADPH) activity