CIDEA
cell death inducing DFFA like effector a
Basic information
Region (hg38): 18:12254361-12277595
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (36 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIDEA gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001279.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 35 | 37 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 35 | 1 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CIDEA | protein_coding | protein_coding | ENST00000320477 | 5 | 23277 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000558 | 0.265 | 125728 | 0 | 19 | 125747 | 0.0000756 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.236 | 153 | 145 | 1.06 | 0.00000949 | 1403 |
| Missense in Polyphen | 49 | 44.683 | 1.0966 | 473 | ||
| Synonymous | 0.477 | 60 | 64.9 | 0.925 | 0.00000450 | 456 |
| Loss of Function | 0.0114 | 8 | 8.04 | 0.996 | 4.24e-7 | 90 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000355 | 0.000354 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000465 | 0.0000462 |
| European (Non-Finnish) | 0.0000529 | 0.0000527 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as a CEBPB coactivator in mammary epithelial cells to control the expression of a subset of CEBPB downstream target genes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but not casein. By interacting with CEBPB, strengthens the association of CEBPB with the XDH promoter, increases histone acetylation and dissociates HDAC1 from the promoter (By similarity). Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair and occurs at a lower rate than that promoted by CIDEC. When overexpressed, induces apoptosis. The physiological significance of its role in apoptosis is unclear. {ECO:0000250, ECO:0000269|PubMed:19843876}.;
- Pathway
- Differentiation of white and brown adipocyte;Metabolism of lipids;Metabolism;Lipid particle organization
(Consensus)
Recessive Scores
- pRec
- 0.188
Intolerance Scores
- loftool
- 0.460
- rvis_EVS
- 0.6
- rvis_percentile_EVS
- 82.66
Haploinsufficiency Scores
- pHI
- 0.154
- hipred
- N
- hipred_score
- 0.240
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.589
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cidea
- Phenotype
- homeostasis/metabolism 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); growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); pigmentation phenotype; vision/eye phenotype;
Gene ontology
- Biological process
- temperature homeostasis;lipid metabolic process;apoptotic process;cell death;positive regulation of sequestering of triglyceride;lipid storage;negative regulation of transforming growth factor beta receptor signaling pathway;negative regulation of tumor necrosis factor production;lipid droplet organization;response to stilbenoid;negative regulation of cytokine secretion;negative regulation of lipid catabolic process;negative regulation of cold-induced thermogenesis;negative regulation of execution phase of apoptosis;regulation of apoptotic DNA fragmentation
- Cellular component
- nucleus;cytoplasm;mitochondrion;mitochondrial envelope;lipid droplet;cytosol
- Molecular function
- protein homodimerization activity