CBARP

CACN subunit beta associated regulatory protein

Basic information

Region (hg38): 19:1228287-1238027

Previous symbols: [ "C19orf26" ]

Links

ENSG00000099625 ∙ NCBI:255057 ∙ ∙ HGNC:28617 ∙ Uniprot:Q8N350 ∙ 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 CBARP gene.

• not_specified (27 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CBARP gene is commonly pathogenic or not. These statistics are base on transcript: NM_001393918.1. 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	3		4
missense			18	1		19
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CBARP	protein_coding	protein_coding	ENST00000590083	8	9741

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.347	0.651	124592	0	4	124596	0.0000161

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.281	297	284	1.05	0.0000197	2803
Missense in Polyphen		107	107	1		1067
Synonymous	-2.71	165	126	1.31	0.00000926	995
Loss of Function	2.58	3	13.1	0.229	5.56e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000296	0.0000296
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000289	0.0000178
Middle Eastern	0.00	0.00
South Asian	0.0000346	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis. {ECO:0000250|UniProtKB:Q66L44}.

Recessive Scores

• pRec: 0.208

Intolerance Scores

• rvis_EVS: 0.69
• rvis_percentile_EVS: 85.21

Haploinsufficiency Scores

• pHI: 0.111
• hipred: N
• hipred_score: 0.146
• ghis: 0.442

Mouse Genome Informatics

• Gene name: Cbarp

Gene ontology

• Biological process: negative regulation of calcium ion-dependent exocytosis;negative regulation of voltage-gated calcium channel activity;negative regulation of calcium ion transmembrane transport
• Cellular component: plasma membrane;integral component of membrane;cell junction;secretory granule;growth cone;synaptic vesicle membrane
• Molecular function: ion channel binding