CYP4F11

cytochrome P450 family 4 subfamily F member 11, the group of Cytochrome P450 family 4

Basic information

Region (hg38): 19:15912367-15934867

Links

ENSG00000171903 ∙ NCBI:57834 ∙ OMIM:611517 ∙ HGNC:13265 ∙ Uniprot:Q9HBI6 ∙ 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 CYP4F11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP4F11 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						0
missense			41	3		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	41	3	0

Variants in CYP4F11

This is a list of pathogenic ClinVar variants found in the CYP4F11 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-15913803-G-A		not specified	Uncertain significance (Feb 16, 2023)
19-15913811-C-T		not specified	Uncertain significance (Oct 13, 2023)
19-15913820-G-A		not specified	Uncertain significance (Nov 09, 2023)
19-15913836-T-A		not specified	Uncertain significance (Jul 06, 2021)
19-15913836-T-C		not specified	Likely benign (Mar 18, 2024)
19-15913844-T-A		not specified	Uncertain significance (Oct 10, 2023)
19-15913892-G-A		not specified	Likely benign (Feb 05, 2024)
19-15914317-G-A		not specified	Uncertain significance (Jan 20, 2023)
19-15914326-A-G		not specified	Uncertain significance (Dec 12, 2023)
19-15914330-A-C		not specified	Uncertain significance (Oct 27, 2023)
19-15914357-T-C		not specified	Uncertain significance (May 23, 2024)
19-15914383-T-C		not specified	Uncertain significance (Feb 28, 2024)
19-15914385-G-A		not specified	Likely benign (Apr 01, 2024)
19-15914387-C-A		not specified	Uncertain significance (Nov 14, 2023)
19-15914612-G-A		not specified	Uncertain significance (Feb 28, 2023)
19-15914774-C-T		not specified	Likely benign (Mar 30, 2024)
19-15914828-C-T		not specified	Uncertain significance (Mar 29, 2024)
19-15922058-C-T		not specified	Uncertain significance (Mar 28, 2022)
19-15922059-G-A		not specified	Uncertain significance (Aug 22, 2023)
19-15922059-G-T		not specified	Uncertain significance (May 05, 2023)
19-15922088-C-T		not specified	Uncertain significance (Oct 29, 2021)
19-15922135-C-G		not specified	Uncertain significance (Jun 17, 2024)
19-15922422-A-T		not specified	Uncertain significance (Feb 14, 2023)
19-15923877-C-T		not specified	Uncertain significance (Dec 15, 2022)
19-15923878-A-C		not specified	Uncertain significance (Jan 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP4F11	protein_coding	protein_coding	ENST00000402119	12	22501

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.47e-21	0.000364	125525	0	223	125748	0.000887

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.40	395	324	1.22	0.0000197	3442
Missense in Polyphen		104	86.563	1.2014		997
Synonymous	-1.43	152	131	1.16	0.00000801	1016
Loss of Function	-0.584	30	26.7	1.12	0.00000130	287

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00348	0.00347
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000545	0.000544
Finnish	0.000602	0.000601
European (Non-Finnish)	0.000648	0.000642
Middle Eastern	0.000545	0.000544
South Asian	0.000654	0.000653
Other	0.00327	0.00326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Omega-hydroxylase that oxidizes a variety of structurally unrelated compounds, including fatty acids and xenobiotics. Plays a key role in vitamin K catabolism by mediating omega-hydroxylation of vitamin K1 (phylloquinone), and menaquinone-4 (MK-4), a form of vitamin K2. Hydroxylation of phylloquinone and MK-4 probably regulates blood coagulation (PubMed:24138531). Catalyzes omega-hydroxylation of 3-hydroxy fatty acids, such as 3-hydroxypalmitate, 3-hydroxyoleate, 3- hydroxyarachidonate, and 3-hydroxystearate (PubMed:18065749, PubMed:19932081). Oxidizes drugs such as erythromycin, benzphetamine, ethylmorphine, chlorpromazine and imipramine (PubMed:15364545). {ECO:0000269|PubMed:15364545, ECO:0000269|PubMed:18065749, ECO:0000269|PubMed:19932081, ECO:0000269|PubMed:24138531}.
• Pathway: 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: 0.136

Intolerance Scores

• loftool: 0.189
• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.74

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.139
• ghis: 0.441

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.152

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cyp4f40

Gene ontology

• Biological process: fatty acid metabolic process;inflammatory response;blood coagulation;menaquinone catabolic process;phylloquinone catabolic process;vitamin K catabolic process;oxidation-reduction process
• Cellular component: endoplasmic reticulum membrane;integral component of membrane;organelle membrane
• Molecular function: monooxygenase activity;fatty acid binding;iron ion binding;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;heme binding