CYP4B1

protein-coding

cytochrome P450 family 4 subfamily B member 1, the group of Cytochrome P450 family 4

Gene summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

MANE transcript

NM_001099772.2

Inheritance

—

ClinVar variants

U:85B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr1:46,757,838-46,819,413

External References & Databases

Ensembl (ENSG00000142973)

Transcript & Mutation Effects

hg38 • Region Span ~61.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CYP4B1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 79

not providedTotal: 13

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001099772.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	3 clinvar	1 clinvar	6
missense			79 clinvar	4 clinvar	5 clinvar	88
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	85	7	6	98

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 51 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001099772.2	RefSeq	NP_001093242.1	12	MANE Select
ENST00000371923.9	Ensembl	ENSP00000360991.4	12	MANE Select
NM_000779.4	RefSeq	NP_000770.2	12	Standard
NM_001319161.2	RefSeq	NP_001306090.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nuclear Receptors in Lipid Metabolism and Toxicity
Oxidation by Cytochrome P450
Metapathway biotransformation Phase I and II
Phase I - Functionalization of compounds
Metabolism of lipids

Biological Process

biphenyl metabolic process
fluorene metabolic process
exogenous drug catabolic process
oxidation-reduction process

Molecular Function

monooxygenase activity
iron ion binding
toxic substance binding
fluorene oxygenase activity
oxygen binding

Cellular Component

endoplasmic reticulum membrane
organelle membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000371923
Coding exons: 12
Length: 61576
Individuals with no LoFs: 91211
Homozygous LoFs: 2955
Heterozygous LoFs: 31582
Defined: 125748
p: 0.148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.208	312	302	1.03	0.0000175	3373
Missense (PolyPhen)		95	94.889	1.0012		1155
Synonymous	-0.398	119	114	1.05	0.00000587	984
Loss of Function	1.19	18	24.3	0.740	0.00000104	274

Population LoF Frequency

Population	CAF	p-value	Status
African	0.056	0.057	notable
Latino/Admixed American	0.20	0.19	notable
Ashkenazi Jewish	0.13	0.13	notable
East Asian	0.24	0.24	notable
Finnish	0.14	0.14	notable
European (Non-Finnish)	0.14	0.14	notable
South Asian	0.13	0.13	notable
Other	0.14	0.15	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.;

Recessive Scores

pRec: 0.242

Intolerance Scores

LoFtool: 0.455
RVIS EVS: 2.13
RVIS percentile EVS: 97.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0901

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High