CEP170

Chr 1

centrosomal protein 170

Also known as: FAM68A, KAB, KIAA0470

NCBI Gene: 9859ENSG00000143702UniProt: Q5SW79

The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

347
ClinVar variants
96
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— CEP170
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
96 Pathogenic / Likely Pathogenic· 224 VUS of 347 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.19LOEUF
pLI 1.000
Z-score 6.58
OE 0.10 (0.05–0.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.20Z-score
OE missense 0.78 (0.72–0.83)
593 obs / 763.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.10 (0.05–0.19)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.78 (0.72–0.83)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.85
0≤1.21.6
LoF obs/exp: 6 / 61.8Missense obs/exp: 593 / 763.9Syn Z: 1.92

ClinVar Variant Classifications

347 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic89
Likely Pathogenic7
VUS224
Likely Benign8
Benign2
89
Pathogenic
7
Likely Pathogenic
224
VUS
8
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
89
0
89
Likely Pathogenic
0
0
7
0
7
VUS
0
201
23
0
224
Likely Benign
0
2
2
4
8
Benign
0
1
1
0
2
Total02041224330

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CEP170 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
Si S et al.·Genome Med
2024
A class I PI3K signalling network regulates primary cilia disassembly in normal physiology and disease.
Conduit SE et al.·Nat Commun
2024
Sarcomas With RAD51B Fusions Are Associated With a Heterogeneous Phenotype.
Chang HY et al.·Mod Pathol
2024
Altered centriolar cohesion by CEP250 and appendages impact outcome of patients with pancreatic cancer.
Giordano G et al.·Pancreatology
2024Cohort
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Nagamani SC et al.·Eur J Hum Genet
2012
hVFL3/CCDC61 is a component of mother centriole subdistal appendages required for centrosome cohesion and positioning.
Pizon V et al.·Biol Cell
2020
Plasma cell-free DNA methylation profile before afatinib treatment is associated with progression-free and overall survival of patients with epidermal growth factor receptor gene mutation-positive non-small cell lung cancer.
Fujimoto M et al.·Clin Epigenetics
2025Cohort
Genomic Insights into Idiopathic Granulomatous Mastitis through Whole-Exome Sequencing: A Case Report of Eight Patients.
Ong SS et al.·Int J Mol Sci
2024Case report
Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing.
Musolf AM et al.·Eur J Hum Genet
2019
Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound.
Chen CP et al.·Taiwan J Obstet Gynecol
2020Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools