CIDEB

cell death inducing DFFA like effector b

Basic information

Region (hg38): 14:24305186-24311430

Links

ENSG00000136305 ∙ NCBI:27141 ∙ OMIM:604441 ∙ HGNC:1977 ∙ Uniprot:Q9UHD4 ∙ 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 CIDEB gene.

• Inborn genetic diseases (31 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIDEB 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			22		3	25
Total	0	0	31	0	3

Variants in CIDEB

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

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

Position	Type	Phenotype	Significance	ClinVar
14-24305671-C-T		not specified	Uncertain significance (Aug 12, 2021)
14-24305686-C-G		not specified	Uncertain significance (Jun 24, 2022)
14-24305953-A-G		not specified	Uncertain significance (Mar 29, 2022)
14-24306043-C-T		not specified	Uncertain significance (Jan 16, 2024)
14-24306522-G-T		not specified	Uncertain significance (Aug 19, 2023)
14-24307384-T-C		not specified	Uncertain significance (Apr 22, 2022)
14-24307385-C-T		not specified	Uncertain significance (Oct 22, 2021)
14-24307414-C-T		not specified	Uncertain significance (Aug 12, 2021)
14-24307415-G-A		not specified	Uncertain significance (Aug 02, 2021)
14-24307441-C-T		not specified	Uncertain significance (Oct 26, 2022)
14-24307442-G-A		not specified	Uncertain significance (May 01, 2022)
14-24307448-G-T		not specified	Uncertain significance (Jan 16, 2024)
14-24307483-C-T		not specified	Uncertain significance (Feb 06, 2024)
14-24307489-A-G		not specified	Uncertain significance (Oct 05, 2023)
14-24310712-G-C		not specified	Uncertain significance (Nov 18, 2022)
14-24310729-C-T		not specified	Uncertain significance (Dec 07, 2021)
14-24310771-C-T		not specified	Uncertain significance (Mar 20, 2023)
14-24310789-T-C		not specified	Uncertain significance (Dec 27, 2022)
14-24310819-G-A		not specified	Uncertain significance (Jul 05, 2023)
14-24310840-C-A		not specified	Uncertain significance (Sep 26, 2023)
14-24310858-C-T		not specified	Uncertain significance (Nov 08, 2021)
14-24310873-C-T		not specified	Uncertain significance (Feb 16, 2023)
14-24310912-C-T		not specified	Uncertain significance (Mar 06, 2023)
14-24310930-T-G		not specified	Uncertain significance (Dec 02, 2021)
14-24310968-G-A		not specified	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CIDEB	protein_coding	protein_coding	ENST00000336557	5	6335

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.22e-15	0.00132	125482	2	264	125748	0.00106

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.120	123	127	0.970	0.00000745	1388
Missense in Polyphen		44	43.028	1.0226		450
Synonymous	0.145	50	51.3	0.974	0.00000261	466
Loss of Function	-1.63	18	11.9	1.51	7.43e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00177	0.00177
Ashkenazi Jewish	0.00102	0.000993
East Asian	0.000109	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00105	0.00104
Middle Eastern	0.000109	0.000109
South Asian	0.00221	0.00209
Other	0.00147	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Activates apoptosis.

Recessive Scores

• pRec: 0.0843

Intolerance Scores

• loftool: 0.699
• rvis_EVS: -0.78
• rvis_percentile_EVS: 12.77

Haploinsufficiency Scores

• pHI: 0.158
• hipred: N
• hipred_score: 0.170
• ghis: 0.447

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.795

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cideb
• Phenotype: growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: apoptotic process;intrinsic apoptotic signaling pathway in response to DNA damage;positive regulation of cell death;positive regulation of release of cytochrome c from mitochondria;execution phase of apoptosis;activation of cysteine-type endopeptidase activity
• Cellular component: lipid droplet;cytosol;perinuclear region of cytoplasm
• Molecular function: protein binding;identical protein binding