CYP4F11

gene
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Summary

CYP4F11 (cytochrome P450 family 4 subfamily F member 11, HGNC:13265) is a protein-coding gene on chromosome 19p13.12, encoding Cytochrome P450 4F11 (Q9HBI6). A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and their oxygenated derivatives (oxylipins). It is a selective cancer dependency (DepMap: 10.2% of cell lines).

This gene, CYP4F11, 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 gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 57834 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 126 total
  • Druggable target: yes
  • Cancer dependency (DepMap): dependent in 10.2% of screened cell lines
  • MANE Select transcript: NM_021187

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13265
Approved symbolCYP4F11
Namecytochrome P450 family 4 subfamily F member 11
Location19p13.12
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000171903
Ensembl biotypeprotein_coding
OMIM611517
Entrez57834

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 15 protein_coding, 1 retained_intron

ENST00000248041, ENST00000326742, ENST00000402119, ENST00000591841, ENST00000620614, ENST00000904116, ENST00000904117, ENST00000904118, ENST00000904119, ENST00000904120, ENST00000904121, ENST00000904122, ENST00000904123, ENST00000904124, ENST00000904125, ENST00000904126

RefSeq mRNA: 2 — MANE Select: NM_021187 NM_001128932, NM_021187

CCDS: CCDS12337

Canonical transcript exons

ENST00000402119 — 12 exons

ExonStartEnd
ENSE000008733991592945715929601
ENSE000016232971592743015927483
ENSE000017565531592476115924882
ENSE000017936301593421115934529
ENSE000028601811591237715913909
ENSE000034690881592381215924082
ENSE000034810731592721215927339
ENSE000036134321592236415922430
ENSE000037091101591430515914387
ENSE000037101791591476215914895
ENSE000037106331591460215914666
ENSE000037106941592203715922166

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 93.81.

FANTOM5 (CAGE): breadth broad, TPM avg 3.2228 / max 320.8098, expressed in 384 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter IDTPM avgSamples expressed
1797821.2816335
1797770.5804108
1797760.537484
1797810.4797147
1797790.195189
1797780.087135
1797800.030913
1797750.02295
2087170.00776

Top tissues by expression

287 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right lobe of liverUBERON:000111493.81gold quality
liverUBERON:000210790.77gold quality
gall bladderUBERON:000211085.39gold quality
mucosa of transverse colonUBERON:000499180.59gold quality
islet of LangerhansUBERON:000000679.26gold quality
descending thoracic aortaUBERON:000234578.06gold quality
esophagus mucosaUBERON:000246977.22gold quality
lower esophagus mucosaUBERON:003583473.86gold quality
right adrenal gland cortexUBERON:003582773.68gold quality
corpus epididymisUBERON:000435972.31gold quality
thoracic aortaUBERON:000151571.87gold quality
right adrenal glandUBERON:000123371.62gold quality
ascending aortaUBERON:000149671.56gold quality
aortaUBERON:000094770.73gold quality
mucosa of stomachUBERON:000119970.36gold quality
popliteal arteryUBERON:000225070.19gold quality
tibial arteryUBERON:000761070.17gold quality
caudate nucleusUBERON:000187369.72gold quality
duodenumUBERON:000211469.43gold quality
right frontal lobeUBERON:000281068.27gold quality
nucleus accumbensUBERON:000188267.61gold quality
pancreasUBERON:000126467.25gold quality
epididymisUBERON:000130166.86gold quality
amygdalaUBERON:000187666.72gold quality
right lobe of thyroid glandUBERON:000111966.66gold quality
putamenUBERON:000187466.62gold quality
left adrenal glandUBERON:000123465.54gold quality
caput epididymisUBERON:000435865.50gold quality
olfactory segment of nasal mucosaUBERON:000538665.39gold quality
Brodmann (1909) area 9UBERON:001354065.38gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes7.78

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB

miRNA regulators (miRDB)

57 targeting CYP4F11, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-3924100.0072.092394
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-314899.9775.066478
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-6756-5P99.8267.972466
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-4766-5P99.7569.232662
HSA-MIR-4524A-3P99.7266.852406
HSA-MIR-117999.7168.701040
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-377-5P99.7065.28712
HSA-MIR-608699.7065.38699
HSA-MIR-6766-5P99.6867.702325

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 10.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

  • 3-hydroxystearate and 3-hydroxypalmitate are converted to omega-hydroxylated 3-OHDCA precursors in liver; CYP4F11 and, to a lesser extent, CYP4F2 catalyzed omega-hydroxylation of 3-hydroxystearate; CYP4F3b, CYP4F12, and CYP4A11 had negligible activity. (PMID:18065749)
  • The CYP4F11 gene is positively regulated by multiple signaling pathways in HaCaT keratinocytes, including retinoid X receptor and JNK signaling pathways. (PMID:19812349)
  • Microsomal menaquinone-4 omega-hydroxylation activities correlated with the CYP4F2 V433M genotype but not the CYP4F11 D446N genotype (PMID:24138531)
  • results suggest that the metabolism of CYP4F11 substrates may be reduced in individuals carrying the CYP4F11 D315N genetic variant and individuals carrying the common D446N CYP4F11 variant likely exhibit comparable 20-HETE synthesis as individuals expressing wild-type CYP4F11. (PMID:28347661)
  • Regulation of cytochrome P450 4F11 expression by liver X receptor alpha. (PMID:33310663)
  • A novel gene associated with small bowel bleeding in patients taking low-dose aspirin. (PMID:34059446)
  • Deciphering the Role of Fatty Acid-Metabolizing CYP4F11 in Lung Cancer and Its Potential As a Drug Target. (PMID:37973374)

Cross-species orthologs

36 orthologs

OrganismSymbolGene ID
danio_reriocyp4t8ENSDARG00000004964
danio_reriocyp4f3ENSDARG00000053530
mus_musculusCyp4a31ENSMUSG00000028712
mus_musculusCyp4a32ENSMUSG00000063929
mus_musculusCyp4a10ENSMUSG00000066072
mus_musculusCyp4a30bENSMUSG00000084346
rattus_norvegicusCyp4a1ENSRNOG00000009597
rattus_norvegicusCyp4a3ENSRNOG00000066878
drosophila_melanogasterCyp4d1FBGN0005670
drosophila_melanogasterCyp4d2FBGN0011576
drosophila_melanogasterCyp4e2FBGN0014469
drosophila_melanogasterCyp4c3FBGN0015032
drosophila_melanogasterCyp4d8FBGN0015033
drosophila_melanogasterCyp4e1FBGN0015034
drosophila_melanogasterCyp4e3FBGN0015035
drosophila_melanogasterCyp4ae1FBGN0015036
drosophila_melanogasterCyp4p1FBGN0015037
drosophila_melanogasterCyp4d14FBGN0023541
drosophila_melanogasterCyp4s3FBGN0030615
drosophila_melanogasterCyp4ac1FBGN0031693
drosophila_melanogasterCyp4ac2FBGN0031694
drosophila_melanogasterCyp4ac3FBGN0031695
drosophila_melanogasterCyp4d21FBGN0031925
drosophila_melanogasterCyp4ad1FBGN0033292
drosophila_melanogasterCyp4p2FBGN0033395
drosophila_melanogasterCyp4p3FBGN0033397
drosophila_melanogasterCyp4aa1FBGN0034053
drosophila_melanogasterCyp4d20FBGN0035344
drosophila_melanogasterCyp312a1FBGN0036778
caenorhabditis_elegansWBGENE00007140
caenorhabditis_elegansWBGENE00009226
caenorhabditis_elegansWBGENE00010354
caenorhabditis_elegansWBGENE00013381
caenorhabditis_elegansWBGENE00016147
caenorhabditis_elegansWBGENE00021200
caenorhabditis_elegansWBGENE00021412

Paralogs (12): CYP19A1 (ENSG00000137869), CYP4B1 (ENSG00000142973), CYP4V2 (ENSG00000145476), CYP4A22 (ENSG00000162365), CYP4F22 (ENSG00000171954), CYP4F2 (ENSG00000186115), CYP4Z1 (ENSG00000186160), CYP4F12 (ENSG00000186204), CYP4X1 (ENSG00000186377), CYP4F8 (ENSG00000186526), CYP4F3 (ENSG00000186529), CYP4A11 (ENSG00000187048)

Protein

Protein identifiers

Cytochrome P450 4F11Q9HBI6 (reviewed: Q9HBI6)

Alternative names: 3-hydroxy fatty acids omega-hydroxylase CYP4F11, Docosahexaenoic acid omega-hydroxylase, Long-chain fatty acid omega-monooxygenase, Phylloquinone omega-hydroxylase CYP4F11

All UniProt accessions (2): Q9HBI6, F8W978

UniProt curated annotations — full annotation on UniProt →

Function. A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and their oxygenated derivatives (oxylipins). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase). Catalyzes with high efficiency the oxidation of the terminal carbon (omega-oxidation) of 3-hydroxy fatty acids, such as 3-hydroxyhexadecanoic and 3-hydroxyoctadecanoic acids, likely participating in the biosynthesis of long-chain 3-hydroxydicarboxylic acids. Omega-hydroxylates and inactivates phylloquinone (vitamin K1), and menaquinone-4 (MK-4, a form of vitamin K2), both acting as cofactors in blood coagulation. Metabolizes with low efficiciency fatty acids, including (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) and its oxygenated metabolite 8-hydroxyeicosatetraenoic acid (8-HETE). Catalyzes N- and O-demethylation of drugs such as erythromycin, benzphetamine, ethylmorphine, chlorpromazine, imipramine and verapamil. Catalyzes the oxidation of dialkylresorcinol 2.

Subcellular location. Endoplasmic reticulum membrane. Microsome membrane.

Tissue specificity. Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle.

Post-translational modifications. 4-hydroxynonenal conjugation impairs substrate binding and the long-chain fatty acid omega-monooxygenase activity.

Activity regulation. Inhibition of the long-chain fatty acid omega-monooxygenase activity by 4-hydroxynonenal (4-HNE) conjugation.

Pathway. Lipid metabolism; arachidonate metabolism. Lipid metabolism; oxylipin biosynthesis. Cofactor degradation; phylloquinone degradation. Xenobiotic degradation.

Similarity. Belongs to the cytochrome P450 family.

RefSeq proteins (2): NP_001122404, NP_067010* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001128Cyt_P450Family
IPR002401Cyt_P450_E_grp-IFamily
IPR017972Cyt_P450_CSConserved_site
IPR036396Cyt_P450_sfHomologous_superfamily
IPR050196Cytochrome_P450_MonooxFamily

Pfam: PF00067

Catalyzed reactions (Rhea), 12 shown:

  • an organic molecule + reduced [NADPH–hemoprotein reductase] + O2 = an alcohol + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:17149)
  • dodecanoate + reduced [NADPH–hemoprotein reductase] + O2 = 12-hydroxydodecanoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:38947)
  • 3-hydroxyhexadecanoate + reduced [NADPH–hemoprotein reductase] + O2 = 3,16-dihydroxyhexadecanoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:39731)
  • 3-hydroxyoctadecanoate + reduced [NADPH–hemoprotein reductase] + O2 = 3,18-dihydroxyoctadecanoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:39735)
  • (5Z,8Z,11Z,14Z)-eicosatetraenoate + reduced [NADPH–hemoprotein reductase] + O2 = 20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:39755)
  • (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + reduced [NADPH–hemoprotein reductase] + O2 = 22-hydroxy-(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:40155)
  • hexadecanoate + reduced [NADPH–hemoprotein reductase] + O2 = 16-hydroxyhexadecanoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:40199)
  • phylloquinone + reduced [NADPH–hemoprotein reductase] + O2 = omega-hydroxyphylloquinone + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:41516)
  • menaquinone-4 + reduced [NADPH–hemoprotein reductase] + O2 = omega-hydroxymenaquinone-4 + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:41520)
  • (9Z)-octadecenoate + reduced [NADPH–hemoprotein reductase] + O2 = 18-hydroxy-(9Z)-octadecenoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:41728)
  • 8-hydroxy-(5Z,9E,11Z,14Z)-eicosatetraenoate + reduced [NADPH–hemoprotein reductase] + O2 = 8,20-dihydroxy-(5Z,9E,11Z,14Z)-eicosatetraenoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:48660)
  • 12-hydroxy-(5Z,8Z,10E,14Z)-eicosatetraenoate + reduced [NADPH–hemoprotein reductase] + O2 = 12,20-dihydroxy-(5Z,8Z,10E,14Z)-eicosatetraenoate + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:48664)

UniProt features (15 total): modified residue 6, sequence variant 3, sequence conflict 2, binding site 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9HBI6-F191.910.80

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 328 (covalent); 468 (axial binding residue)

Post-translational modifications (6): 45, 260, 261, 347, 354, 451

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

IDPathway
R-HSA-211935Fatty acids
R-HSA-211958Miscellaneous substrates
R-HSA-211979Eicosanoids
R-HSA-2142691Synthesis of Leukotrienes (LT) and Eoxins (EX)

MSigDB gene sets: 117 (showing top): REACTOME_BIOLOGICAL_OXIDATIONS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GNF2_GSTM1, GNF2_HPN, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_WOUND_HEALING, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GNF2_LCAT, CAIRO_HEPATOBLASTOMA_DN, GOBP_LIPID_METABOLIC_PROCESS, GNF2_HPX, GOBP_ORGANIC_ACID_METABOLIC_PROCESS

GO Biological Process (10): fatty acid metabolic process (GO:0006631), blood coagulation (GO:0007596), arachidonate metabolic process (GO:0019369), oxylipin biosynthetic process (GO:0031408), menaquinone catabolic process (GO:0042361), phylloquinone catabolic process (GO:0042376), vitamin K catabolic process (GO:0042377), omega-hydroxylase P450 pathway (GO:0097267), cytochrome metabolic process (GO:1903604), lipid metabolic process (GO:0006629)

GO Molecular Function (12): monooxygenase activity (GO:0004497), fatty acid binding (GO:0005504), iron ion binding (GO:0005506), 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 (GO:0016709), heme binding (GO:0020037), arachidonate omega-hydroxylase activity (GO:0052869), long-chain fatty acid omega-hydroxylase activity (GO:0102033), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), 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 (GO:0016712), metal ion binding (GO:0046872)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Cytochrome P450 - arranged by substrate type3
Arachidonate metabolism1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
ketone catabolic process2
oxidoreductase activity2
monooxygenase activity2
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen2
lipid metabolic process1
monocarboxylic acid metabolic process1
hemostasis1
wound healing1
coagulation1
long-chain fatty acid metabolic process1
icosanoid metabolic process1
unsaturated fatty acid metabolic process1
olefinic compound metabolic process1
oxylipin metabolic process1
carboxylic acid biosynthetic process1
menaquinone metabolic process1
vitamin K catabolic process1
fat-soluble vitamin catabolic process1
vitamin K metabolic process1
arachidonate metabolic process1
protein metabolic process1
primary metabolic process1
lipid binding1
monocarboxylic acid binding1
transition metal ion binding1
tetrapyrrole binding1
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 oxygen1
fatty acid omega-hydroxylase activity1
binding1
catalytic activity1
cation binding1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
cellular anatomical structure1

Protein interactions and networks

STRING

1376 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CYP4F11CYB5BO43169440
CYP4F11CYP2F1P24903433
CYP4F11PPIGQ13427418
CYP4F11CBR3O75828416
CYP4F11CYP2W1Q8TAV3412
CYP4F11CYP8B1Q9UNU6397
CYP4F11CYB5RLQ6IPT4384
CYP4F11CYB5R4Q7L1T6378
CYP4F11CYB5R1Q9UHQ9375
CYP4F11CYB5R2Q6BCY4375
CYP4F11CYB5R3P00387366
CYP4F11NCKAP5O14513361
CYP4F11CYP26B1Q9NR63359
CYP4F11CYP7B1O75881317
CYP4F11CD109Q6YHK3310

IntAct

5 interactions, top by confidence:

ABTypeScore
MESDCYP4F11psi-mi:“MI:0915”(physical association)0.560
POT1CYP4F11psi-mi:“MI:0915”(physical association)0.370
CYP4F11MESDpsi-mi:“MI:0915”(physical association)0.000

BioGRID (14): CYP4F11 (Affinity Capture-RNA), CYP4F11 (Two-hybrid), CYP4F11 (Proximity Label-MS), CYP4F11 (Proximity Label-MS), CYP4F11 (Proximity Label-MS), CYP4F11 (Proximity Label-MS), CYP4F11 (Proximity Label-MS), CYP4F11 (Proximity Label-MS), CYP4F11 (Proximity Label-MS), CYP4F11 (Proximity Label-MS), CYP4F11 (Proximity Label-MS), CYP4F11 (Affinity Capture-MS), CYP4F11 (Affinity Capture-MS), POT1 (Two-hybrid)

ESM2 similar proteins: A0A087X1C5, E9Q816, O18992, O46658, P00191, P03940, P08686, P10633, P10634, P10635, P11714, P12394, P12938, P12939, P15540, P24456, P24457, P30437, P51589, P51590, P52786, P70085, P78329, Q01361, Q0IIF9, Q29473, Q29488, Q2LA59, Q2LA60, Q2LCM1, Q2XNC8, Q2XNC9, Q4V8D1, Q64403, Q64562, Q64680, Q6GUQ4, Q6VVW9, Q6VVX0, Q7Z449

Diamond homologs: A0A067DT54, A0A067E1K2, A0A0S2II38, A0A140JWM8, A0A1B4XBH8, A0A1W5T1Y6, A0A3Q7HBJ5, A0A517FNB9, A0A517FNC6, A0A5B8ND22, A0A9Y1LLN2, A0AAW1NEA3, A2QTE8, A2RRT9, A2Z212, A9QNE7, B0XZV0, B1NF18, B5BSX1, B6SSW8, B8AJL3, B8AV52, B8QHP1, B8QHP5, B9X287, F1SY66, G3XMC3, I1GQE7, K4CI52, L7T720, L7T8H2, O23051, O35728, O49858, O61387, O81077, O88833, P08682, P0DXH4, P14137

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

126 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance104
Likely benign8
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1794 predictions. Top by Δscore:

VariantEffectΔscore
19:15913910:C:CCacceptor_gain1.0000
19:15914300:CTTAC:Cdonor_loss1.0000
19:15914302:TAC:Tdonor_loss1.0000
19:15914303:A:Tdonor_loss1.0000
19:15914664:TGC:Tacceptor_gain1.0000
19:15914666:CCTG:Cacceptor_loss1.0000
19:15914667:C:CCacceptor_gain1.0000
19:15914667:CTGTG:Cacceptor_loss1.0000
19:15914668:T:Aacceptor_loss1.0000
19:15923806:GCCTA:Gdonor_loss1.0000
19:15923807:CCTA:Cdonor_loss1.0000
19:15923808:CTA:Cdonor_loss1.0000
19:15923809:TACC:Tdonor_loss1.0000
19:15923810:A:Tdonor_loss1.0000
19:15923811:C:Adonor_loss1.0000
19:15924714:C:CAdonor_gain1.0000
19:15924759:A:ACdonor_gain1.0000
19:15924759:ACT:Adonor_gain1.0000
19:15924760:C:CCdonor_gain1.0000
19:15924760:CT:Cdonor_gain1.0000
19:15924760:CTC:Cdonor_gain1.0000
19:15927210:A:ACdonor_gain1.0000
19:15927211:C:CCdonor_gain1.0000
19:15927211:CGTG:Cdonor_gain1.0000
19:15927335:ATCCC:Aacceptor_gain1.0000
19:15927336:TCCC:Tacceptor_gain1.0000
19:15927337:CCC:Cacceptor_gain1.0000
19:15927337:CCCC:Cacceptor_gain1.0000
19:15927338:CC:Cacceptor_gain1.0000
19:15927338:CCC:Cacceptor_gain1.0000

AlphaMissense

3460 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:15914319:G:CF461L0.992
19:15914319:G:TF461L0.992
19:15914321:A:GF461L0.992
19:15927272:G:CF155L0.989
19:15927272:G:TF155L0.989
19:15927274:A:GF155L0.989
19:15914367:G:CF445L0.987
19:15914367:G:TF445L0.987
19:15914369:A:GF445L0.987
19:15914847:G:CS388R0.987
19:15914847:G:TS388R0.987
19:15914849:T:GS388R0.987
19:15927294:C:GR148P0.986
19:15927295:G:TR148S0.986
19:15913888:G:CF473L0.983
19:15913888:G:TF473L0.983
19:15913890:A:GF473L0.983
19:15913898:C:TG470E0.981
19:15924876:A:GW178R0.980
19:15924876:A:TW178R0.980
19:15913899:C:AG470W0.979
19:15922088:C:GR355P0.978
19:15913903:G:CC468W0.976
19:15914616:A:GW434R0.976
19:15914616:A:TW434R0.976
19:15927307:A:GW144R0.975
19:15927307:A:TW144R0.975
19:15922385:C:GA322P0.972
19:15913909:T:AR466S0.970
19:15913909:T:GR466S0.970

dbSNP variants (sampled 300 via entrez): RS1000011714 (19:15926916 G>A,T), RS1000043272 (19:15918557 G>A), RS1000078654 (19:15918314 C>T), RS1000433390 (19:15912182 T>C), RS1000552517 (19:15927161 G>T), RS1000667699 (19:15917184 T>C), RS1001261044 (19:15919029 A>G), RS1001292366 (19:15918706 G>A), RS1001338725 (19:15931296 A>C), RS1001367996 (19:15931518 G>A), RS1001719801 (19:15926799 A>T), RS1001733991 (19:15935704 G>T), RS1001782972 (19:15915009 A>G,T), RS1001915481 (19:15916884 C>T), RS1001979930 (19:15915388 A>C,T)

Disease associations

OMIM: gene MIM:611517 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295949 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

VariantTypeLevelDrugsPhenotypes
rs1060467Dosage3warfarin

PharmGKB variants

3 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs1060463CYP4F110.000
rs1060467CYP4F1132.251warfarin
rs8104361CYP4F110.000

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — CYP4 family

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
7.92IC5011.9nMCHEMBL267865
6.54IC50291.3nMCHEMBL5272822

PubChem BioAssay actives

2 with measured affinity, of 6 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
N’-(4-butyl-2-methylphenyl)-N-hydroxymethanimidamide1935291: Inhibition of human recombinant CYP4F11 using Luciferin ME EGE as substrate incubated for 30 mins in presence of NADPH by luminescence based assayic500.0119uM
ethyl 4-[4-[(hydroxyamino)methylideneamino]phenyl]butanoate1935291: Inhibition of human recombinant CYP4F11 using Luciferin ME EGE as substrate incubated for 30 mins in presence of NADPH by luminescence based assayic500.2913uM

CTD chemical–gene interactions

49 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects expression, increases expression4
Air Pollutantsincreases expression, decreases expression, increases abundance4
Cyclosporineincreases expression4
Benzo(a)pyreneincreases expression, increases methylation3
monomethylarsonous acidincreases expression2
Silicon Dioxidedecreases expression, increases expression2
Aflatoxin B1decreases expression, increases expression2
Particulate Matterincreases abundance, increases expression2
aminomethylphosphonic acid (AMPA)decreases expression1
Asian ginsengdecreases expression, decreases reaction, affects cotreatment, increases expression1
propionaldehydedecreases expression1
bisphenol Aaffects expression1
lead acetateincreases expression1
senecionineincreases expression1
2-methyl-4-isothiazolin-3-oneincreases expression1
2,4,5,2’,4’,5’-hexachlorobiphenylincreases expression1
sulforaphaneincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
butyraldehydedecreases expression1
periodate-oxidized adenosineaffects expression1
cupric chlorideincreases expression1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic aciddecreases expression1
avobenzoneincreases expression1
glycidamideincreases expression1
LG 268increases expression1
pyrazolanthronedecreases reaction, increases expression, decreases expression1
obeticholic aciddecreases expression1
jinfukangaffects cotreatment, increases expression1
NSC 689534affects binding, increases expression1
NSC668394increases expression1

ChEMBL screening assays

2 unique, capped per target: 2 admet

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL4256715ADMETDrug metabolism in human NCI-H1155 cells assessed as CYP4F11-meidated O-demethylation by measuring half life at 500 nM by LC-MS/MS analysisDiscovery of Cytochrome P450 4F11 Activated Inhibitors of Stearoyl Coenzyme A Desaturase. — J Med Chem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.