CYP2F1

cytochrome P450 family 2 subfamily F member 1, the group of Cytochrome P450 family 2

Basic information

Region (hg38): 19:41114432-41128381

Previous symbols: [ "CYP2F" ]

Links

ENSG00000197446 ∙ NCBI:1572 ∙ OMIM:124070 ∙ HGNC:2632 ∙ Uniprot:P24903 ∙ 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 CYP2F1 gene.

• not_specified (83 variants)
• not_provided (5 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP2F1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000774.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			80	3	3	86
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	80	3	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP2F1	protein_coding	protein_coding	ENST00000331105	9	13935

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.41e-9	0.322	79498	6001	40249	125748	0.205

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00200	311	311	1.00	0.0000196	3188
Missense in Polyphen		95	100.87	0.94178		1029
Synonymous	0.785	124	136	0.914	0.00000893	1006
Loss of Function	0.771	15	18.6	0.807	9.39e-7	207

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.537	0.536
Ashkenazi Jewish	0.166	0.163
East Asian	0.249	0.249
Finnish	0.244	0.243
European (Non-Finnish)	0.189	0.188
Middle Eastern	0.249	0.249
South Asian	0.228	0.226
Other	0.192	0.188

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the metabolism of various pneumotoxicants including naphthalene. Is able to dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin but possesses no activity toward ethoxyresorufin and only trace dearylation activity toward benzyloxyresorufin. Bioactivates 3- methylindole (3MI) by dehydrogenation to the putative electrophile 3-methylene-indolenine. {ECO:0000269|PubMed:1974816}.
• Pathway: Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Oxidation by Cytochrome P450;Tryptophan metabolism;Metapathway biotransformation Phase I and II;Phase I - Functionalization of compounds;Xenobiotics;Tyrosine metabolism;Fatty acids;Androgen and estrogen biosynthesis and metabolism;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;Tryptophan degradation;CYP2E1 reactions;Arachidonic acid metabolism (Consensus)

Intolerance Scores

• loftool: 0.824
• rvis_EVS: 1
• rvis_percentile_EVS: 90.77

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.208

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.317

Gene Damage Prediction

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

Gene ontology

• Biological process: organic acid metabolic process;xenobiotic metabolic process;response to toxic substance;naphthalene metabolic process;trichloroethylene metabolic process;epoxygenase P450 pathway;exogenous drug catabolic process;oxidation-reduction process
• Cellular component: cytoplasm;endoplasmic reticulum membrane;organelle membrane;intracellular membrane-bounded organelle
• Molecular function: monooxygenase activity;iron ion binding;arachidonic acid epoxygenase activity;steroid hydroxylase activity;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;oxygen binding;heme binding;aromatase activity