CARD19

caspase recruitment domain family member 19, the group of Caspase recruitment domain containing

Basic information

Region (hg38): 9:93096217-93113283

Previous symbols: [ "C9orf89" ]

Links

ENSG00000165233 ∙ NCBI:84270 ∙ OMIM:617726 ∙ HGNC:28148 ∙ Uniprot:Q96LW7 ∙ 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 CARD19 gene.

• not_specified (33 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CARD19 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032310.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			33			33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CARD19	protein_coding	protein_coding	ENST00000375464	6	17066

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000593	0.464	125681	0	58	125739	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0482	119	120	0.988	0.00000823	1163
Missense in Polyphen		42	44.401	0.94592		434
Synonymous	-0.0288	49	48.7	1.01	0.00000291	379
Loss of Function	0.585	9	11.1	0.810	7.41e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.00209	0.00207
Finnish	0.000163	0.000139
European (Non-Finnish)	0.000126	0.000123
Middle Eastern	0.00209	0.00207
South Asian	0.0000329	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the phosphorylation of BCL10 in a CARD-dependent manner. {ECO:0000269|PubMed:15637807}.

Intolerance Scores

• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.100
• hipred: N
• hipred_score: 0.177
• ghis: 0.549

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Card19

Gene ontology

• Biological process: negative regulation of I-kappaB kinase/NF-kappaB signaling
• Cellular component: nucleus;mitochondrion;endoplasmic reticulum membrane;cytosol;integral component of membrane;mitochondrial membrane
• Molecular function: CARD domain binding