CBARP

CACN subunit beta associated regulatory protein

Basic information

Region (hg38): 19:1228287-1238027

Previous symbols: [ "C19orf26" ]

Links

ENSG00000099625NCBI:255057HGNC:28617Uniprot:Q8N350AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CBARP gene.

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.

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
2
clinvar
2
missense
11
clinvar
1
clinvar
12
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
3
clinvar
1
clinvar
4
Total 0 0 14 4 0

Variants in CBARP

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

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

Position Type Phenotype Significance ClinVar
19-1228318-G-A Peutz-Jeghers syndrome Uncertain significance (Jan 13, 2018)892272
19-1228333-C-T Peutz-Jeghers syndrome Uncertain significance (Jun 14, 2016)328246
19-1228342-G-A Peutz-Jeghers syndrome Uncertain significance (Apr 27, 2017)892273
19-1228413-AAAGCTTGGG-A Peutz-Jeghers syndrome Likely benign (Jun 14, 2016)328247
19-1229692-G-T Likely benign (Mar 01, 2022)2648908
19-1230975-C-A not specified Uncertain significance (Jun 29, 2023)2588917
19-1230987-G-C not specified Uncertain significance (Apr 19, 2023)2561163
19-1231014-G-A not specified Uncertain significance (Sep 10, 2024)3485557
19-1231056-G-A not specified Uncertain significance (May 15, 2024)3263599
19-1231192-C-G not specified Uncertain significance (Nov 13, 2023)3137926
19-1231261-G-A not specified Uncertain significance (Nov 14, 2024)3485555
19-1233564-C-T not specified Uncertain significance (Sep 30, 2021)2207306
19-1233570-C-T not specified Uncertain significance (Mar 15, 2024)3263598
19-1233576-C-T not specified Uncertain significance (Dec 10, 2024)3485554
19-1234248-G-C not specified Uncertain significance (Sep 11, 2024)3485556
19-1234290-G-T not specified Uncertain significance (Oct 20, 2024)2399659
19-1234607-C-T Likely benign (Feb 01, 2023)2648909
19-1235025-C-T not specified Uncertain significance (Jul 06, 2021)2234837
19-1235031-T-C not specified Uncertain significance (May 13, 2024)3263597
19-1235034-T-C not specified Uncertain significance (Feb 17, 2024)3137929
19-1235806-C-T not specified Uncertain significance (Feb 28, 2024)3137928
19-1235897-C-T not specified Uncertain significance (Jun 16, 2023)2595926
19-1236021-C-T not specified Uncertain significance (Mar 21, 2024)3263595
19-1236045-G-A not specified Uncertain significance (May 30, 2022)2409427
19-1236085-T-A not specified Uncertain significance (Dec 18, 2023)3137927

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CBARPprotein_codingprotein_codingENST00000590083 89741
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3470.651124592041245960.0000161
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2812972841.050.00001972803
Missense in Polyphen10710711067
Synonymous-2.711651261.310.00000926995
Loss of Function2.58313.10.2295.56e-7169

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002960.0000296
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00002890.0000178
Middle Eastern0.000.00
South Asian0.00003460.0000327
Other0.000.00

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

loftool
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
Phenotype

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