CYP3A43

cytochrome P450 family 3 subfamily A member 43, the group of Cytochrome P450 family 3

Basic information

Region (hg38): 7:99828012-99866093

Links

ENSG00000021461 ∙ NCBI:64816 ∙ OMIM:606534 ∙ HGNC:17450 ∙ Uniprot:Q9HB55 ∙ 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 CYP3A43 gene.

• Inborn genetic diseases (14 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP3A43 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	1
missense			11	3	2	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	3	3

Variants in CYP3A43

This is a list of pathogenic ClinVar variants found in the CYP3A43 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-99836542-T-C		not specified	Uncertain significance (Aug 28, 2023)
7-99844147-T-C		not specified	Uncertain significance (Feb 23, 2023)
7-99847509-C-T			Benign (Dec 31, 2019)
7-99848168-G-T			Benign (Dec 31, 2019)
7-99849584-C-T		not specified	Uncertain significance (Dec 28, 2022)
7-99849658-A-C		not specified	Uncertain significance (Jan 09, 2023)
7-99849685-C-G		not specified	Uncertain significance (Feb 13, 2024)
7-99855624-C-A		not specified	Uncertain significance (Dec 11, 2023)
7-99855677-A-G		not specified	Likely benign (Nov 08, 2022)
7-99855688-G-A		not specified	Likely benign (Aug 02, 2021)
7-99855697-T-A		not specified	Uncertain significance (Nov 07, 2023)
7-99856854-C-A		not specified	Uncertain significance (Jan 08, 2024)
7-99856887-A-G		not specified	Likely benign (May 31, 2023)
7-99859830-C-T		not specified	Uncertain significance (Oct 03, 2022)
7-99859901-A-T		not specified	Likely benign (Nov 28, 2023)
7-99859970-G-A		not specified	Uncertain significance (Jun 14, 2022)
7-99859982-C-G			Benign (Oct 28, 2020)
7-99861623-C-T		not specified	Uncertain significance (Dec 14, 2023)
7-99861631-G-A		not specified	Uncertain significance (Jan 24, 2024)
7-99861641-A-C		not specified	Uncertain significance (Dec 14, 2023)
7-99861743-T-G		not specified	Uncertain significance (Dec 02, 2022)
7-99861778-A-G		not specified	Uncertain significance (Aug 13, 2021)
7-99863541-A-G		not specified	Uncertain significance (Sep 27, 2021)
7-99863581-T-C		not specified	Uncertain significance (Jun 21, 2023)
7-99863620-G-A		not specified	Uncertain significance (Jul 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP3A43	protein_coding	protein_coding	ENST00000222382	13	38083

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.72e-11	0.368	113803	798	11147	125748	0.0487

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.148	251	258	0.974	0.0000120	3347
Missense in Polyphen		52	59.687	0.87122		779
Synonymous	0.281	89	92.4	0.963	0.00000465	923
Loss of Function	1.11	20	26.1	0.765	0.00000135	320

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.301	0.299
Ashkenazi Jewish	0.0574	0.0567
East Asian	0.000671	0.000653
Finnish	0.0201	0.0199
European (Non-Finnish)	0.0379	0.0376
Middle Eastern	0.000671	0.000653
South Asian	0.0528	0.0516
Other	0.0459	0.0450

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Exhibits low testosterone 6-beta-hydroxylase activity.
• Pathway: Chemical carcinogenesis - Homo sapiens (human);Vitamin A Deficiency;Retinol Metabolism;Aripiprazole Metabolic Pathway;Oxidation by Cytochrome P450;Metapathway biotransformation Phase I and II;Phase I - Functionalization of compounds;Xenobiotics;Tyrosine metabolism;Androgen and estrogen biosynthesis and metabolism;Miscellaneous substrates;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;Tryptophan degradation;Arachidonic acid metabolism (Consensus)

Recessive Scores

• pRec: 0.153

Intolerance Scores

• loftool: 0.913
• rvis_EVS: 0.76
• rvis_percentile_EVS: 86.75

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.901

Gene Damage Prediction

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

Gene ontology

• Biological process: oxidation-reduction process
• Cellular component: endoplasmic reticulum membrane;organelle membrane
• Molecular function: monooxygenase activity;iron ion binding;heme binding;aromatase activity