CEP126
protein-codingcentrosomal protein 126
Gene summary
Involved in cilium assembly; cytoplasmic microtubule organization; and mitotic spindle organization. Located in centrosome; ciliary base; and midbody. [provided by Alliance of Genome Resources, Jul 2025]
- KIAA1377
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~86.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CEP126 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020802.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 2 | 3 | |||
| missense | 121 | 15 | 6 | 142 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 121 | 16 | 8 | 145 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_065853.3 | 11 | MANE Select | |
| Ensembl | ENSP00000263468.8 | 11 | MANE Select | |
| RefSeq | NP_001350472.1 | 7 | Standard | |
| Ensembl | ENSP00000437014.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- mitotic spindle organization
- cytoplasmic microtubule organization
- cilium assembly
- non-motile cilium assembly
Molecular Function
- protein binding
Cellular Component
- cytoplasm
- centrosome
- midbody
- ciliary base
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000263468
- Coding exons
- 11
- Length
- 86044
- Individuals with no LoFs
- 125493
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 254
- Defined
- 125747
- p
- 0.00101
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.557 | 518 | 555 | 0.933 | 0.0000265 | 7352 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.011 | 0.011 | notable |
| Latino/Admixed American | 0.00027 | 0.00026 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00087 | 0.00082 | rare |
| Finnish | 0.000093 | 0.000092 | rare |
| European (Non-Finnish) | 0.00018 | 0.00018 | rare |
| South Asian | 0.00070 | 0.00069 | rare |
| Other | 0.00066 | 0.00065 | rare |
dbNSFP Gene Annotations
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
- RVIS EVS
- 0.45
- RVIS percentile EVS
- 78.04
Essentials
- Essential (gene trap)
- N