CIDEA

cell death inducing DFFA like effector a

Basic information

Region (hg38): 18:12254361-12277595

Links

ENSG00000176194 ∙ NCBI:1149 ∙ OMIM:604440 ∙ HGNC:1976 ∙ Uniprot:O60543 ∙ 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 CIDEA gene.

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.

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						0
missense			21	1	1	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	1

Variants in CIDEA

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

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

Position	Type	Phenotype	Significance	ClinVar
18-12262865-T-C		not specified	Likely benign (May 26, 2024)
18-12262890-G-A		not specified	Uncertain significance (Sep 27, 2021)
18-12262908-A-G		not specified	Uncertain significance (Mar 01, 2023)
18-12262934-G-A		not specified	Uncertain significance (Dec 05, 2022)
18-12264334-G-A		not specified	Uncertain significance (Jan 05, 2022)
18-12264385-G-A		not specified	Uncertain significance (Feb 02, 2024)
18-12264400-T-G			Benign (Jul 06, 2018)
18-12264413-C-T		not specified	Uncertain significance (Nov 15, 2021)
18-12264416-A-G		not specified	Uncertain significance (Feb 23, 2023)
18-12264429-G-C		not specified	Uncertain significance (Sep 10, 2024)
18-12274156-G-A		not specified	Uncertain significance (Dec 19, 2023)
18-12274211-C-A		not specified	Uncertain significance (Aug 08, 2023)
18-12274214-T-C		not specified	Uncertain significance (Nov 14, 2024)
18-12274222-A-T		not specified	Uncertain significance (Jul 27, 2021)
18-12274224-G-A		not specified	Uncertain significance (Dec 26, 2023)
18-12274246-C-T		not specified	Uncertain significance (Nov 09, 2024)
18-12277133-C-T		not specified	Uncertain significance (Aug 10, 2024)
18-12277134-G-A		not specified	Uncertain significance (Dec 20, 2023)
18-12277152-C-A		not specified	Uncertain significance (May 24, 2023)
18-12277199-C-T		not specified	Uncertain significance (Jan 17, 2024)
18-12277227-C-T		not specified	Uncertain significance (Mar 01, 2023)
18-12277241-C-A		not specified	Uncertain significance (Aug 07, 2024)
18-12277266-G-C		not specified	Uncertain significance (Apr 13, 2022)

GnomAD

Source: gnomAD

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: dbNSFP

• 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

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