CBARP
Basic information
Region (hg38): 19:1228287-1238027
Previous symbols: [ "C19orf26" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
missense | 11 | 12 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 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) | ||
19-1228333-C-T | Peutz-Jeghers syndrome | Uncertain significance (Jun 14, 2016) | ||
19-1228342-G-A | Peutz-Jeghers syndrome | Uncertain significance (Apr 27, 2017) | ||
19-1228413-AAAGCTTGGG-A | Peutz-Jeghers syndrome | Likely benign (Jun 14, 2016) | ||
19-1229692-G-T | Likely benign (Mar 01, 2022) | |||
19-1230975-C-A | not specified | Uncertain significance (Jun 29, 2023) | ||
19-1230987-G-C | not specified | Uncertain significance (Apr 19, 2023) | ||
19-1231014-G-A | not specified | Uncertain significance (Sep 10, 2024) | ||
19-1231056-G-A | not specified | Uncertain significance (May 15, 2024) | ||
19-1231192-C-G | not specified | Uncertain significance (Nov 13, 2023) | ||
19-1231261-G-A | not specified | Uncertain significance (Nov 14, 2024) | ||
19-1233564-C-T | not specified | Uncertain significance (Sep 30, 2021) | ||
19-1233570-C-T | not specified | Uncertain significance (Mar 15, 2024) | ||
19-1233576-C-T | not specified | Uncertain significance (Dec 10, 2024) | ||
19-1234248-G-C | not specified | Uncertain significance (Sep 11, 2024) | ||
19-1234290-G-T | not specified | Uncertain significance (Oct 20, 2024) | ||
19-1234607-C-T | Likely benign (Feb 01, 2023) | |||
19-1235025-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
19-1235031-T-C | not specified | Uncertain significance (May 13, 2024) | ||
19-1235034-T-C | not specified | Uncertain significance (Feb 17, 2024) | ||
19-1235806-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
19-1235897-C-T | not specified | Uncertain significance (Jun 16, 2023) | ||
19-1236021-C-T | not specified | Uncertain significance (Mar 21, 2024) | ||
19-1236045-G-A | not specified | Uncertain significance (May 30, 2022) | ||
19-1236085-T-A | not specified | Uncertain significance (Dec 18, 2023) |
GnomAD
Source:
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:
- 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