CARD18

caspase recruitment domain family member 18, the group of Caspase recruitment domain containing

Basic information

Region (hg38): 11:105137714-105531697

Links

ENSG00000255501 ∙ NCBI:59082 ∙ OMIM:605354 ∙ HGNC:28861 ∙ Uniprot:P57730 ∙ 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 CARD18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CARD18 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in CARD18

This is a list of pathogenic ClinVar variants found in the CARD18 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-105138860-G-A		not specified	Uncertain significance (Feb 07, 2023)
11-105138926-C-A		not specified	Uncertain significance (Aug 04, 2023)
11-105138929-T-C		not specified	Uncertain significance (Jan 22, 2024)
11-105138979-C-A		not specified	Uncertain significance (Oct 06, 2021)
11-105138982-A-G		not specified	Uncertain significance (Apr 07, 2022)
11-105138998-A-T		not specified	Uncertain significance (May 04, 2022)
11-105139058-T-C		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CARD18	protein_coding	protein_coding	ENST00000530950	2	2006

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00142	0.446	124477	4	125	124606	0.000518

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.522	57	46.9	1.21	0.00000224	593
Missense in Polyphen		17	13.021	1.3056		187
Synonymous	1.51	8	15.6	0.513	6.75e-7	163
Loss of Function	-0.0929	4	3.80	1.05	2.24e-7	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000252	0.000252
Ashkenazi Jewish	0.0000995	0.0000994
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000357	0.0000354
Middle Eastern	0.0000556	0.0000556
South Asian	0.00399	0.00386
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits generation of IL-1-beta by interacting with caspase-1 and preventing its association with RIP2. Down-regulates the release of IL1B. {ECO:0000269|PubMed:11051551}.
• Pathway: NOD-like receptor signaling pathway - Homo sapiens (human) (Consensus)

Intolerance Scores

• loftool: 0.735
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.33

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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

Gene ontology

• Biological process: proteolysis;inflammatory response;negative regulation of protein binding;regulation of apoptotic process;negative regulation of interleukin-1 beta secretion;inhibition of cysteine-type endopeptidase activity
• Cellular component: protein-containing complex
• Molecular function: cysteine-type endopeptidase activity;cysteine-type endopeptidase inhibitor activity;protein binding;CARD domain binding;caspase binding