CYP4B1

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

Basic information

Region (hg38): 1:46757838-46819413

Links

ENSG00000142973 ∙ NCBI:1580 ∙ OMIM:124075 ∙ HGNC:2644 ∙ Uniprot:P13584 ∙ 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 CYP4B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP4B1 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				3	1	4
missense			33	1	6	40
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	33	4	9

Variants in CYP4B1

This is a list of pathogenic ClinVar variants found in the CYP4B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-46799094-T-A			Benign (Jun 29, 2018)
1-46799124-C-A		not specified	Uncertain significance (Dec 07, 2021)
1-46799208-A-C		not specified	Uncertain significance (Jul 27, 2022)
1-46799228-T-C			Benign/Likely benign (Feb 01, 2023)
1-46799251-A-G		not specified	Uncertain significance (Apr 08, 2024)
1-46810818-C-T		not specified	Uncertain significance (Jun 17, 2024)
1-46810830-A-G		not specified	Uncertain significance (Jun 22, 2023)
1-46810881-T-C		not specified	Uncertain significance (Sep 13, 2023)
1-46810883-G-A		not specified	Uncertain significance (Feb 16, 2023)
1-46810914-A-G		not specified	Uncertain significance (Oct 10, 2023)
1-46810943-C-T		not specified	Uncertain significance (Mar 31, 2024)
1-46811147-G-A			Benign (Jul 16, 2018)
1-46811158-T-C		not specified	Uncertain significance (Jan 30, 2024)
1-46812541-G-A		not specified	Uncertain significance (Jan 08, 2024)
1-46812586-A-T		not specified	Uncertain significance (Feb 28, 2024)
1-46812612-C-T		not specified	Uncertain significance (Jun 06, 2023)
1-46813492-A-G		not specified	Uncertain significance (Aug 17, 2022)
1-46813516-C-A		not specified	Uncertain significance (Jan 23, 2024)
1-46814021-C-T		not specified	Uncertain significance (Nov 06, 2023)
1-46814022-G-A		not specified	Uncertain significance (Mar 16, 2022)
1-46814027-T-C			Likely benign (May 31, 2018)
1-46814226-C-T			Benign (Jun 13, 2018)
1-46814237-C-G			Likely benign (Jul 12, 2018)
1-46814274-C-T		not specified	Uncertain significance (Sep 07, 2022)
1-46814275-G-A		not specified	Uncertain significance (Aug 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP4B1	protein_coding	protein_coding	ENST00000371923	12	61576

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.28e-10	0.508	91211	2955	31582	125748	0.148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.208	312	302	1.03	0.0000175	3373
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.252	0.252
Ashkenazi Jewish	0.126	0.125
East Asian	0.243	0.240
Finnish	0.142	0.142
European (Non-Finnish)	0.143	0.142
Middle Eastern	0.243	0.240
South Asian	0.134	0.133
Other	0.145	0.146

dbNSFP

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.
• Pathway: 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;Synthesis of Leukotrienes (LT) and Eoxins (EX);Arachidonic acid metabolism;Tyrosine metabolism;Fatty acids;Eicosanoids;Androgen and estrogen biosynthesis and metabolism;Miscellaneous substrates;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;Fatty acid metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;Tryptophan degradation;Arachidonic acid metabolism (Consensus)

Recessive Scores

• pRec: 0.242

Intolerance Scores

• loftool: 0.455
• rvis_EVS: 2.13
• rvis_percentile_EVS: 97.95

Haploinsufficiency Scores

• pHI: 0.0688
• hipred: N
• hipred_score: 0.170
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0901

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cyp4b1
• Phenotype: homeostasis/metabolism phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype

Gene ontology

• Biological process: biphenyl metabolic process;fluorene metabolic process;exogenous drug catabolic process;oxidation-reduction process
• Cellular component: endoplasmic reticulum membrane;organelle membrane
• Molecular function: monooxygenase activity;iron ion binding;toxic substance binding;fluorene oxygenase activity;oxygen binding;heme binding;aromatase activity