BLVRB

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

Basic information

Region (hg38): 19:40447764-40465764

Previous symbols: [ "FLR" ]

Links

ENSG00000090013 ∙ NCBI:645 ∙ OMIM:600941 ∙ HGNC:1063 ∙ Uniprot:P30043 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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	1	2
missense			18	3		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	4	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
19-40447916-G-T		not specified	Uncertain significance (Jun 22, 2024)
19-40447917-C-T		not specified	Likely benign (Jun 22, 2024)
19-40447951-G-A		not specified	Uncertain significance (Mar 23, 2022)
19-40447974-T-C		not specified	Uncertain significance (Dec 19, 2023)
19-40447984-T-C		not specified	Uncertain significance (Sep 06, 2022)
19-40447988-C-A		not specified	Uncertain significance (Feb 27, 2023)
19-40451409-G-C			Likely benign (Jun 20, 2018)
19-40451426-C-T		not specified	Uncertain significance (Mar 28, 2022)
19-40451463-G-A		not specified	Uncertain significance (Nov 29, 2021)
19-40451486-A-G		not specified	Uncertain significance (Jun 27, 2022)
19-40458170-C-T		not specified	Uncertain significance (Nov 02, 2023)
19-40458214-C-T		not specified	Likely benign (Aug 06, 2021)
19-40458215-G-A		not specified	Uncertain significance (Aug 17, 2022)
19-40458218-C-T		not specified	Uncertain significance (Dec 13, 2023)
19-40458221-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-40458237-C-G			Benign (Jul 23, 2018)
19-40458392-C-T		not specified	Uncertain significance (Aug 22, 2022)
19-40458447-C-T		not specified	Uncertain significance (Nov 10, 2022)
19-40458478-G-A			Likely benign (Dec 31, 2019)
19-40458480-G-C		not specified	Uncertain significance (Nov 28, 2023)
19-40458485-G-A		not specified	Uncertain significance (Mar 01, 2024)
19-40458488-C-T			Likely benign (Dec 31, 2019)
19-40458533-G-C		not specified	Uncertain significance (Jan 17, 2024)
19-40465624-T-C		not specified	Uncertain significance (Nov 07, 2022)
19-40465661-C-G		not specified	Uncertain significance (Apr 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BLVRB	protein_coding	protein_coding	ENST00000263368	5	18052

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000419	0.228	125637	1	101	125739	0.000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.452	114	128	0.888	0.00000767	1280
Missense in Polyphen		37	44.641	0.82883		490
Synonymous	0.752	51	58.3	0.875	0.00000380	449
Loss of Function	-0.111	8	7.67	1.04	4.25e-7	83

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000802	0.000736
Ashkenazi Jewish	0.00220	0.00218
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000121	0.000114
Middle Eastern	0.00	0.00
South Asian	0.00175	0.00163
Other	0.000661	0.000652

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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