CARD17P

caspase recruitment domain family member 17, pseudogene

Basic information

Previous symbols: [ "CARD17" ]

Links

ENSG00000255221 ∙ NCBI:440068 ∙ OMIM:609490 ∙ HGNC:33827 ∙ Uniprot:Q5XLA6 ∙ 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 CARD17P gene.

• Inborn genetic diseases (7 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CARD17P 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)					1	1
splice region						0
non coding			6	1		7
Total	0	0	6	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CARD17P	protein_coding	protein_coding	ENST00000375707	3	8963

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000667	0.301	124184	54	1483	125721	0.00613

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.73	98	60.3	1.63	0.00000310	693
Missense in Polyphen		19	13.277	1.4311		195
Synonymous	-1.97	34	22.2	1.53	0.00000112	223
Loss of Function	-0.196	6	5.50	1.09	3.17e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0898	0.0900
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000469	0.0000462
European (Non-Finnish)	0.000302	0.000299
Middle Eastern	0.0000544	0.0000544
South Asian	0.000198	0.000196
Other	0.00248	0.00245

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-IL-1beta/IL1B and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. However, unlike CASP1, do not induce NF-kappa-B activation. {ECO:0000269|PubMed:15383541}.
• Pathway: NOD-like receptor signaling pathway - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0917

Intolerance Scores

• loftool: 0.712
• rvis_EVS: 1.24
• rvis_percentile_EVS: 93.29

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

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

Gene ontology

• Biological process: proteolysis;negative regulation of endopeptidase activity;regulation of apoptotic process;negative regulation of interleukin-1 beta secretion;cellular response to lipopolysaccharide
• Cellular component: cytoplasm;protein-containing complex
• Molecular function: cysteine-type endopeptidase activity;cysteine-type endopeptidase inhibitor activity;protein binding;identical protein binding;caspase binding