CFAP126
Basic information
Region (hg38): 1:161364733-161367876
Previous symbols: [ "C1orf192" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP126 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 | 15 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 15 | 1 | 1 |
Variants in CFAP126
This is a list of pathogenic ClinVar variants found in the CFAP126 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CFAP126 | protein_coding | protein_coding | ENST00000367974 | 5 | 3144 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000619 | 0.279 | 125663 | 0 | 84 | 125747 | 0.000334 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.713 | 78 | 97.9 | 0.797 | 0.00000489 | 1142 |
| Missense in Polyphen | 41 | 41.582 | 0.986 | 467 | ||
| Synonymous | 1.81 | 20 | 33.3 | 0.601 | 0.00000152 | 367 |
| Loss of Function | 0.0555 | 8 | 8.17 | 0.979 | 3.46e-7 | 97 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000423 | 0.000423 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000435 | 0.000272 |
| Finnish | 0.000139 | 0.000139 |
| European (Non-Finnish) | 0.000528 | 0.000528 |
| Middle Eastern | 0.000435 | 0.000272 |
| South Asian | 0.000196 | 0.000196 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear. {ECO:0000250|UniProtKB:Q6P8X9}.;
Intolerance Scores
- loftool
- rvis_EVS
- 0.41
- rvis_percentile_EVS
- 76.67
Haploinsufficiency Scores
- pHI
- 0.0361
- hipred
- N
- hipred_score
- 0.178
- ghis
- 0.393
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Cfap126
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- cilium organization
- Cellular component
- cytoplasm;cilium;apical plasma membrane;ciliary basal body
- Molecular function