CERS4
Basic information
Region (hg38): 19:8206736-8262433
Previous symbols: [ "LASS4" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CERS4 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 | 3 | |||||
missense | 27 | 28 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 27 | 3 | 1 |
Variants in CERS4
This is a list of pathogenic ClinVar variants found in the CERS4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-8251159-G-A | not specified | Uncertain significance (May 28, 2024) | ||
19-8251167-C-T | not specified | Uncertain significance (Apr 13, 2023) | ||
19-8251168-G-A | not specified | Uncertain significance (Oct 12, 2021) | ||
19-8251173-T-A | not specified | Uncertain significance (Apr 26, 2023) | ||
19-8251195-T-C | not specified | Uncertain significance (May 13, 2024) | ||
19-8251208-C-T | Likely benign (Jan 01, 2023) | |||
19-8251213-C-T | not specified | Uncertain significance (Nov 25, 2024) | ||
19-8254500-T-A | not specified | Uncertain significance (Mar 18, 2024) | ||
19-8254521-C-T | not specified | Uncertain significance (Aug 28, 2024) | ||
19-8254569-G-A | Likely benign (May 18, 2018) | |||
19-8254594-C-T | not specified | Uncertain significance (Dec 17, 2023) | ||
19-8255644-C-T | not specified | Uncertain significance (Mar 28, 2022) | ||
19-8255677-G-A | not specified | Uncertain significance (Dec 27, 2022) | ||
19-8255703-A-C | not specified | Uncertain significance (Nov 25, 2024) | ||
19-8255842-T-C | not specified | Uncertain significance (Sep 08, 2024) | ||
19-8255856-G-A | not specified | Uncertain significance (Jan 03, 2024) | ||
19-8256252-C-T | not specified | Uncertain significance (Nov 13, 2024) | ||
19-8256613-T-A | Likely benign (Aug 01, 2024) | |||
19-8256628-C-G | not specified | Uncertain significance (Apr 22, 2022) | ||
19-8256648-C-G | not specified | Uncertain significance (Dec 26, 2023) | ||
19-8256678-C-T | Benign (May 18, 2018) | |||
19-8256691-C-G | not specified | Uncertain significance (Nov 08, 2022) | ||
19-8256705-C-T | not specified | Uncertain significance (Sep 24, 2024) | ||
19-8256959-A-T | not specified | Uncertain significance (Jul 08, 2021) | ||
19-8256963-G-T | not specified | Uncertain significance (Jul 08, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CERS4 | protein_coding | protein_coding | ENST00000251363 | 10 | 55686 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.35e-22 | 0.0000892 | 125571 | 1 | 175 | 125747 | 0.000700 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.746 | 264 | 232 | 1.14 | 0.0000140 | 2537 |
Missense in Polyphen | 91 | 79.534 | 1.1442 | 870 | ||
Synonymous | -0.0159 | 101 | 101 | 1.00 | 0.00000643 | 787 |
Loss of Function | -1.11 | 30 | 24.1 | 1.24 | 0.00000137 | 225 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00119 | 0.00118 |
Ashkenazi Jewish | 0.00666 | 0.00657 |
East Asian | 0.000275 | 0.000272 |
Finnish | 0.000465 | 0.000462 |
European (Non-Finnish) | 0.000385 | 0.000378 |
Middle Eastern | 0.000275 | 0.000272 |
South Asian | 0.000393 | 0.000392 |
Other | 0.000660 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing different fatty acid donors (N-linked stearoyl- (C18) or arachidoyl- (C20) ceramides) in a fumonisin B1-independent manner (By similarity). {ECO:0000250}.;
- Pathway
- Sphingolipid signaling pathway - Homo sapiens (human);Sphingolipid metabolism - Homo sapiens (human);Sphingolipid Metabolism;Metabolism of lipids;Metabolism;Sphingolipid de novo biosynthesis;Sphingolipid metabolism
(Consensus)
Recessive Scores
- pRec
- 0.131
Intolerance Scores
- loftool
- rvis_EVS
- 0.09
- rvis_percentile_EVS
- 60.65
Haploinsufficiency Scores
- pHI
- 0.141
- hipred
- N
- hipred_score
- 0.170
- ghis
- 0.482
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cers4
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- sphingolipid biosynthetic process;ceramide biosynthetic process
- Cellular component
- endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane;nuclear membrane
- Molecular function
- DNA binding;sphingosine N-acyltransferase activity