CYP4F22
Basic information
Region (hg38): 19:15508524-15552317
Links
Phenotypes
GenCC
Source:
- autosomal recessive congenital ichthyosis 5 (Strong), mode of inheritance: AR
- autosomal recessive congenital ichthyosis 5 (Strong), mode of inheritance: AR
- autosomal recessive congenital ichthyosis 5 (Strong), mode of inheritance: AR
- lamellar ichthyosis (Supportive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Ichthyosis, congenital, autosomal recessive 5 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Dermatologic | 16436457 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (114 variants)
- Autosomal recessive congenital ichthyosis 5 (93 variants)
- Inborn genetic diseases (16 variants)
- not specified (8 variants)
- Lamellar ichthyosis (6 variants)
- Congenital ichthyosiform erythroderma (3 variants)
- Ichthyosis;Atopic eczema (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP4F22 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 | 13 | 17 | ||||
missense | 10 | 49 | 73 | |||
nonsense | 5 | |||||
start loss | 0 | |||||
frameshift | 5 | |||||
inframe indel | 2 | |||||
splice donor/acceptor (+/-2bp) | 3 | |||||
splice region ? | 3 | 2 | 5 | |||
non coding ? | 18 | 43 | 65 | |||
Total | 9 | 15 | 72 | 25 | 49 |
Highest pathogenic variant AF is 0.0000920
Variants in CYP4F22
This is a list of pathogenic ClinVar variants found in the CYP4F22 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-15508569-G-A | Autosomal recessive congenital ichthyosis 5 | Uncertain significance (Jan 13, 2018) | ||
19-15525307-A-G | Benign (Jun 19, 2021) | |||
19-15525335-G-A | Autosomal recessive congenital ichthyosis 5 • not specified | Uncertain significance (Apr 17, 2023) | ||
19-15525356-G-A | not specified • Autosomal recessive congenital ichthyosis 5 | Conflicting classifications of pathogenicity (Jan 01, 2023) | ||
19-15525386-C-G | Inborn genetic diseases | Uncertain significance (Aug 08, 2023) | ||
19-15525387-G-A | Autosomal recessive congenital ichthyosis 5 | Benign/Likely benign (Oct 03, 2023) | ||
19-15525394-C-CG | Autosomal recessive congenital ichthyosis 5 | Pathogenic (Aug 20, 2022) | ||
19-15525397-A-ATAT | Uncertain significance (Jul 27, 2022) | |||
19-15525402-C-T | Likely benign (Jun 08, 2017) | |||
19-15525404-C-T | Likely benign (Dec 07, 2019) | |||
19-15525412-A-G | Inborn genetic diseases | Likely benign (May 23, 2023) | ||
19-15525425-T-C | Autosomal recessive congenital ichthyosis 5 | Uncertain significance (Jan 13, 2018) | ||
19-15525432-C-A | Likely benign (Jan 12, 2018) | |||
19-15525446-G-T | Uncertain significance (Oct 24, 2022) | |||
19-15525468-G-A | Likely benign (Jun 28, 2018) | |||
19-15525496-C-T | Autosomal recessive congenital ichthyosis 5 • Inborn genetic diseases • Bladder exstrophy-epispadias-cloacal extrophy complex | Conflicting classifications of pathogenicity (Jan 25, 2024) | ||
19-15525497-G-A | Uncertain significance (May 22, 2023) | |||
19-15525499-C-T | Inborn genetic diseases | Uncertain significance (Jan 02, 2024) | ||
19-15525513-C-G | Autosomal recessive congenital ichthyosis 5 | Pathogenic/Likely pathogenic (Mar 17, 2024) | ||
19-15525513-C-T | Autosomal recessive congenital ichthyosis 5 | Benign/Likely benign (Dec 13, 2023) | ||
19-15525528-G-T | Likely benign (Dec 20, 2017) | |||
19-15525530-G-A | Inborn genetic diseases | Uncertain significance (Jun 22, 2023) | ||
19-15525573-G-A | Autosomal recessive congenital ichthyosis 5 | Conflicting classifications of pathogenicity (Nov 06, 2023) | ||
19-15525871-T-A | Benign (Nov 11, 2018) | |||
19-15529477-G-T | Benign (Nov 11, 2018) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CYP4F22 | protein_coding | protein_coding | ENST00000269703 | 12 | 43825 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000529 | 0.993 | 125665 | 0 | 83 | 125748 | 0.000330 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.402 | 306 | 326 | 0.937 | 0.0000233 | 3449 |
Missense in Polyphen | 148 | 155.25 | 0.95329 | 1657 | ||
Synonymous | 0.642 | 119 | 128 | 0.928 | 0.00000807 | 1068 |
Loss of Function | 2.42 | 13 | 26.4 | 0.492 | 0.00000140 | 295 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000305 | 0.000304 |
Ashkenazi Jewish | 0.000198 | 0.000198 |
East Asian | 0.000217 | 0.000217 |
Finnish | 0.00130 | 0.00129 |
European (Non-Finnish) | 0.000326 | 0.000325 |
Middle Eastern | 0.000217 | 0.000217 |
South Asian | 0.000163 | 0.000163 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Disease
- DISEASE: Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:16436457}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- 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;Fatty acids;Eicosanoids;Miscellaneous substrates;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;Fatty acid metabolism;Putative anti-Inflammatory metabolites formation from EPA;Vitamin E metabolism;Arachidonic acid metabolism
(Consensus)
Recessive Scores
- pRec
- 0.150
Intolerance Scores
- loftool
- 0.470
- rvis_EVS
- -0.37
- rvis_percentile_EVS
- 28.2
Haploinsufficiency Scores
- pHI
- 0.122
- hipred
- N
- hipred_score
- 0.283
- ghis
- 0.511
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.256
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cyp4f39
- Phenotype
Gene ontology
- Biological process
- icosanoid metabolic process;oxidation-reduction process
- Cellular component
- endoplasmic reticulum membrane;organelle membrane
- Molecular function
- monooxygenase activity;iron ion binding;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;heme binding