CEP126
Basic information
Region (hg38): 11:101915010-102001062
Previous symbols: [ "KIAA1377" ]
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 CEP126 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 | 3 | |||||
missense | 65 | 78 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | 2 | |||
non coding | 0 | |||||
Total | 0 | 0 | 65 | 9 | 8 |
Variants in CEP126
This is a list of pathogenic ClinVar variants found in the CEP126 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-101915297-A-T | not specified | Uncertain significance (Jul 14, 2021) | ||
11-101915343-C-T | not specified | Uncertain significance (Nov 17, 2022) | ||
11-101915361-C-G | not specified | Uncertain significance (May 31, 2023) | ||
11-101915399-C-G | not specified | Uncertain significance (Dec 08, 2023) | ||
11-101922708-A-T | not specified | Uncertain significance (Apr 25, 2023) | ||
11-101922727-G-A | not specified | Uncertain significance (Mar 29, 2022) | ||
11-101944258-A-C | Benign (Oct 16, 2017) | |||
11-101944282-G-A | not specified | Uncertain significance (Feb 14, 2024) | ||
11-101944398-C-T | not specified | Uncertain significance (Mar 20, 2023) | ||
11-101944399-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
11-101948072-C-G | Benign (Jan 12, 2018) | |||
11-101958193-G-A | Benign (Feb 01, 2018) | |||
11-101958239-A-G | not specified | Likely benign (Oct 22, 2021) | ||
11-101958248-G-A | not specified | Uncertain significance (Jun 12, 2023) | ||
11-101958328-C-G | not specified | Uncertain significance (Feb 06, 2023) | ||
11-101958339-C-T | Benign (Dec 04, 2017) | |||
11-101958364-C-A | not specified | Uncertain significance (Dec 20, 2023) | ||
11-101961758-T-C | Likely benign (Jan 12, 2018) | |||
11-101961867-C-T | not specified | Likely benign (Mar 21, 2023) | ||
11-101961868-G-A | not specified | Likely benign (Feb 23, 2023) | ||
11-101961873-A-G | not specified | Uncertain significance (Aug 02, 2023) | ||
11-101961912-C-T | not specified | Uncertain significance (Jul 13, 2021) | ||
11-101961958-A-T | Benign (Aug 24, 2017) | |||
11-101962041-G-A | not specified | Uncertain significance (Sep 13, 2023) | ||
11-101962056-G-C | not specified | Uncertain significance (Nov 23, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CEP126 | protein_coding | protein_coding | ENST00000263468 | 11 | 86044 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
5.22e-18 | 0.477 | 125493 | 0 | 254 | 125747 | 0.00101 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.557 | 518 | 555 | 0.933 | 0.0000265 | 7352 |
Missense in Polyphen | 100 | 122.21 | 0.81824 | 1810 | ||
Synonymous | -0.399 | 206 | 199 | 1.04 | 0.00000931 | 2091 |
Loss of Function | 1.76 | 34 | 47.0 | 0.723 | 0.00000241 | 629 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0116 | 0.0116 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000872 | 0.000816 |
Finnish | 0.0000928 | 0.0000924 |
European (Non-Finnish) | 0.000182 | 0.000176 |
Middle Eastern | 0.000872 | 0.000816 |
South Asian | 0.000698 | 0.000686 |
Other | 0.000655 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236). {ECO:0000269|PubMed:19799413, ECO:0000269|PubMed:24867236}.;
Recessive Scores
- pRec
- 0.0838
Intolerance Scores
- loftool
- rvis_EVS
- 0.45
- rvis_percentile_EVS
- 78.04
Haploinsufficiency Scores
- pHI
- 0.0940
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.474
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Cep126
- Phenotype
Gene ontology
- Biological process
- mitotic spindle organization;cytoplasmic microtubule organization;cilium assembly;non-motile cilium assembly
- Cellular component
- cytoplasm;centrosome;midbody;ciliary base
- Molecular function
- protein binding