CABYR
Basic information
Region (hg38): 18:24138987-24161600
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 CABYR 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 | 28 | 28 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 1 | |||||
Total | 0 | 0 | 29 | 0 | 0 |
Variants in CABYR
This is a list of pathogenic ClinVar variants found in the CABYR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
18-24143134-G-T | not specified | Uncertain significance (May 02, 2024) | ||
18-24155724-A-T | not specified | Uncertain significance (May 13, 2022) | ||
18-24155727-C-T | not specified | Uncertain significance (May 11, 2022) | ||
18-24155778-T-C | not specified | Uncertain significance (May 15, 2024) | ||
18-24155781-A-G | not specified | Uncertain significance (Sep 01, 2021) | ||
18-24155844-T-A | not specified | Uncertain significance (Feb 17, 2024) | ||
18-24155890-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
18-24155916-G-A | not specified | Uncertain significance (Apr 14, 2022) | ||
18-24155945-G-C | not specified | Uncertain significance (Jun 04, 2024) | ||
18-24155973-C-T | not specified | Uncertain significance (Nov 18, 2022) | ||
18-24156003-G-A | not specified | Uncertain significance (May 18, 2023) | ||
18-24156111-G-A | not specified | Uncertain significance (May 26, 2023) | ||
18-24156147-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
18-24156169-C-T | not specified | Uncertain significance (Feb 21, 2024) | ||
18-24156197-A-C | not specified | Uncertain significance (Oct 29, 2021) | ||
18-24156228-G-A | not specified | Uncertain significance (Oct 13, 2023) | ||
18-24156241-C-T | not specified | Uncertain significance (Feb 27, 2024) | ||
18-24156247-C-T | not specified | Uncertain significance (Dec 11, 2023) | ||
18-24156274-C-T | not specified | Uncertain significance (Nov 05, 2021) | ||
18-24156297-G-A | not specified | Uncertain significance (Apr 26, 2024) | ||
18-24156336-G-T | not specified | Uncertain significance (Sep 15, 2021) | ||
18-24156344-G-T | not specified | Uncertain significance (Sep 27, 2021) | ||
18-24156348-G-C | not specified | Uncertain significance (Feb 21, 2024) | ||
18-24156379-T-C | not specified | Uncertain significance (Jan 10, 2023) | ||
18-24156400-T-G | not specified | Uncertain significance (Apr 09, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CABYR | protein_coding | protein_coding | ENST00000399496 | 4 | 22626 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000226 | 0.733 | 124275 | 56 | 1417 | 125748 | 0.00587 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.410 | 184 | 200 | 0.919 | 0.00000988 | 2441 |
Missense in Polyphen | 68 | 78.683 | 0.86423 | 1033 | ||
Synonymous | 0.445 | 69 | 73.9 | 0.934 | 0.00000413 | 783 |
Loss of Function | 1.18 | 11 | 16.1 | 0.682 | 7.86e-7 | 204 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0832 | 0.0814 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.000326 | 0.000326 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000629 | 0.000624 |
Middle Eastern | 0.000326 | 0.000326 |
South Asian | 0.000437 | 0.000425 |
Other | 0.00334 | 0.00326 |
dbNSFP
Source:
- Function
- FUNCTION: May function as a regulator of both motility- and head- associated functions such as capacitation and the acrosome reaction. Isoform 1 binds calcium in vitro. Isoform 2 and isoform 6 probably bind calcium. Isoform 3 and isoform 5 do not bind calcium in vitro. Isoform 4 probably does not bind calcium.;
Recessive Scores
- pRec
- 0.0546
Intolerance Scores
- loftool
- 0.731
- rvis_EVS
- 0.11
- rvis_percentile_EVS
- 61.73
Haploinsufficiency Scores
- pHI
- 0.0321
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.381
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0322
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cabyr
- Phenotype
- reproductive system phenotype; cellular phenotype;
Gene ontology
- Biological process
- epithelial cilium movement;sperm capacitation
- Cellular component
- nucleus;cytoplasm;cytosol;cytoskeleton;motile cilium;sperm fibrous sheath;sperm principal piece;sperm end piece
- Molecular function
- calcium ion binding;SH3 domain binding;protein heterodimerization activity