CYP2W1

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

Basic information

Region (hg38): 7:983181-989640

Links

ENSG00000073067 ∙ NCBI:54905 ∙ OMIM:615967 ∙ HGNC:20243 ∙ Uniprot:Q8TAV3 ∙ 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 CYP2W1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP2W1 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				1	2	3
missense			65	6	1	72
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	65	7	3

Variants in CYP2W1

This is a list of pathogenic ClinVar variants found in the CYP2W1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-983269-G-A		not specified	Uncertain significance (Dec 30, 2024)
7-983288-C-T		not specified	Uncertain significance (Dec 31, 2023)
7-983300-G-A		not specified	Uncertain significance (Nov 09, 2021)
7-983318-G-A		not specified	Uncertain significance (Nov 21, 2024)
7-983326-C-A		not specified	Uncertain significance (Feb 13, 2025)
7-983335-G-A		not specified	Uncertain significance (May 30, 2023)
7-983360-C-T		not specified	Uncertain significance (Jan 19, 2025)
7-983381-T-C		not specified	Uncertain significance (Jan 04, 2022)
7-984421-C-T		not specified	Uncertain significance (Aug 19, 2024)
7-984425-A-G		not specified	Uncertain significance (Oct 16, 2024)
7-984427-G-A		not specified	Uncertain significance (Jan 29, 2025)
7-984427-G-C		not specified	Uncertain significance (May 01, 2022)
7-984442-G-A		not specified	Uncertain significance (Feb 02, 2025)
7-984445-C-T		not specified	Uncertain significance (Sep 16, 2021)
7-984460-A-G		not specified	Uncertain significance (Mar 07, 2023)
7-984506-C-T		not specified	Likely benign (Jun 05, 2023)
7-984543-C-T			Benign (Sep 01, 2024)
7-984563-A-G		not specified	Uncertain significance (May 20, 2024)
7-984952-A-G		not specified	Uncertain significance (Nov 19, 2022)
7-984953-T-G		not specified	Uncertain significance (Nov 19, 2022)
7-984955-T-A		not specified	Uncertain significance (Nov 19, 2022)
7-984971-C-T		not specified	Uncertain significance (Oct 26, 2021)
7-984977-G-T		not specified	Uncertain significance (Oct 26, 2021)
7-984989-G-A		not specified	Uncertain significance (May 20, 2024)
7-985012-C-T		not specified	Uncertain significance (Feb 15, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP2W1	protein_coding	protein_coding	ENST00000308919	9	6442

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.21e-7	0.713	125105	0	67	125172	0.000268

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.173	306	315	0.973	0.0000224	3001
Missense in Polyphen		110	115.19	0.95494		1243
Synonymous	-1.31	174	153	1.13	0.0000110	1120
Loss of Function	1.24	13	18.8	0.691	9.71e-7	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000267	0.000267
Ashkenazi Jewish	0.00	0.00
East Asian	0.00275	0.00272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000466	0.0000443
Middle Eastern	0.00275	0.00272
South Asian	0.000100	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Seems to have broad catalytic activity towards several chemicals, including polycyclic aromatic hydrocarbon dihydrodiols and aromatic amines (PubMed:16551781, PubMed:24278521). Active also in the metabolism of indoline substrates and is able to activate aflatoxin B1 into cytotoxic products (PubMed:20805301). Furthermore, it seems to be involved in the oxydation of lysophospholipids and fatty acids (PubMed:22591743). {ECO:0000269|PubMed:16551781, ECO:0000269|PubMed:20805301, ECO:0000269|PubMed:22591743, ECO:0000269|PubMed:24278521}.
• Pathway: Oxidation by Cytochrome P450;Metapathway biotransformation Phase I and II;Phase I - Functionalization of compounds;Xenobiotics;Miscellaneous substrates;Cytochrome P450 - arranged by substrate type;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.155

Intolerance Scores

• loftool: 0.526
• rvis_EVS: 0.53
• rvis_percentile_EVS: 81.01

Haploinsufficiency Scores

• pHI: 0.0497
• hipred: N
• hipred_score: 0.170
• ghis: 0.510

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.127

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cyp2w1

Gene ontology

• Biological process: organic acid metabolic process;xenobiotic metabolic process;exogenous drug catabolic process;aflatoxin B1 metabolic process;oxidation-reduction process
• Cellular component: cytoplasm;endoplasmic reticulum lumen;endoplasmic reticulum membrane;plasma membrane;cell surface;intracellular membrane-bounded organelle
• Molecular function: monooxygenase activity;iron ion binding;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;heme binding