CEP57L1
protein-codingcentrosomal protein 57 like 1
Gene summary
Enables identical protein binding activity. Predicted to be located in microtubule. Predicted to be active in centrosome. [provided by Alliance of Genome Resources, Jun 2026]
- C6orf182
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~79.3 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 CEP57L1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001271852.3. 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 | 1 | ||||
| missense | 60 | 3 | 1 | 64 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 63 | 4 | 2 | 69 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001258781.1 | 10 | MANE Select | |
| Ensembl | ENSP00000427844.1 | 10 | MANE Select | |
| RefSeq | NP_001077004.1 | 10 | Standard | |
| RefSeq | NP_001258782.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- biological_process
Molecular Function
- molecular_function
- protein binding
- microtubule binding
- identical protein binding
- gamma-tubulin binding
Cellular Component
- cellular_component
- cytoplasm
- centrosome
- microtubule
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000407272
- Coding exons
- 10
- Length
- 68823
- Individuals with no LoFs
- 125638
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 87
- Defined
- 125727
- p
- 0.000354
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.00624 | 226 | 226 | 1.00 | 0.0000107 | 3070 |
| Missense (PolyPhen) | 81 | 74.851 | 1.0821 | 1154 | ||
| Synonymous | 0.684 | 64 | 71.4 | 0.897 | 0.00000336 | 777 |
| Loss of Function | 1.79 | 16 | 25.8 | 0.619 | 0.00000137 | 335 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00092 | 0.00092 | rare |
| Latino/Admixed American | 0.00026 | 0.00026 | rare |
| Ashkenazi Jewish | 0.00099 | 0.00099 | rare |
| East Asian | 0.00044 | 0.00044 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00016 | 0.00016 | rare |
| South Asian | 0.0011 | 0.00091 | notable |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Centrosomal protein which may be required for microtubule attachment to centrosomes. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0864
Intolerance Scores
- RVIS EVS
- 0.97
- RVIS percentile EVS
- 90.34
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |