CERS2
Basic information
Region (hg38): 1:150960582-150975003
Previous symbols: [ "LASS2" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (9 variants)
- not provided (4 variants)
- Marfanoid habitus and intellectual disability (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CERS2 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 | 10 | 11 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 0 | |||||
Total | 0 | 0 | 10 | 1 | 3 |
Variants in CERS2
This is a list of pathogenic ClinVar variants found in the CERS2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-150960754-C-G | not specified | Uncertain significance (Jan 09, 2024) | ||
1-150960883-G-C | not specified | Uncertain significance (Dec 22, 2023) | ||
1-150960918-T-C | Likely benign (Aug 01, 2018) | |||
1-150960992-C-T | Likely benign (Feb 01, 2023) | |||
1-150961124-C-T | Benign (Dec 31, 2019) | |||
1-150962676-A-G | not specified | Uncertain significance (Jun 26, 2023) | ||
1-150962697-C-T | Benign (Dec 31, 2019) | |||
1-150963063-G-A | Likely benign (Feb 01, 2023) | |||
1-150963129-G-T | not specified | Uncertain significance (Aug 13, 2021) | ||
1-150963578-T-G | not specified | Uncertain significance (Jan 31, 2023) | ||
1-150964005-G-A | not specified | Uncertain significance (Dec 12, 2023) | ||
1-150964262-G-T | Benign (Jun 21, 2018) | |||
1-150964267-AACTT-A | Uncertain significance (Apr 24, 2023) | |||
1-150966161-C-G | not specified | Uncertain significance (Sep 26, 2023) | ||
1-150966174-T-C | not specified | Uncertain significance (Nov 09, 2021) | ||
1-150966204-G-A | not specified | Uncertain significance (Aug 02, 2021) | ||
1-150966264-G-C | not specified | Uncertain significance (Dec 08, 2023) | ||
1-150966805-C-T | Likely benign (Jul 01, 2022) | |||
1-150966842-G-A | Benign (Dec 31, 2019) | |||
1-150966843-T-C | not specified | Uncertain significance (Aug 15, 2023) | ||
1-150967403-C-T | not specified | Uncertain significance (Jan 08, 2024) | ||
1-150967407-A-G | Benign (Dec 31, 2019) | |||
1-150967418-T-G | not specified | Uncertain significance (Oct 29, 2021) | ||
1-150967832-G-A | Benign (Dec 31, 2019) | |||
1-150968135-G-A | Marfanoid habitus and intellectual disability | Uncertain significance (-) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CERS2 | protein_coding | protein_coding | ENST00000271688 | 10 | 14421 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.480 | 0.520 | 125739 | 0 | 9 | 125748 | 0.0000358 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.76 | 158 | 234 | 0.676 | 0.0000144 | 2478 |
Missense in Polyphen | 34 | 92.854 | 0.36617 | 961 | ||
Synonymous | -0.452 | 89 | 83.7 | 1.06 | 0.00000463 | 733 |
Loss of Function | 3.83 | 6 | 27.8 | 0.216 | 0.00000168 | 258 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000594 | 0.0000594 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000264 | 0.0000264 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000980 | 0.0000980 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis.;
- 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
- 0.145
Intolerance Scores
- loftool
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 43.57
Haploinsufficiency Scores
- pHI
- 0.235
- hipred
- Y
- hipred_score
- 0.673
- ghis
- 0.511
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 | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cers2
- Phenotype
- neoplasm; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- sphingolipid biosynthetic process;ceramide biosynthetic process;negative regulation of axon regeneration;negative regulation of Schwann cell migration;negative regulation of Schwann cell proliferation involved in axon regeneration
- Cellular component
- endoplasmic reticulum;endoplasmic reticulum membrane;membrane;integral component of membrane;nuclear membrane
- Molecular function
- DNA binding;protein binding;sphingosine N-acyltransferase activity