CEP128

protein-coding

centrosomal protein 128

Gene summary

Involved in several processes, including negative regulation of cilium assembly; positive regulation of protein localization; and regulation of transforming growth factor beta receptor signaling pathway. Acts upstream of or within regulation of gene expression and sperm flagellum assembly. Located in microtubule cytoskeleton and sperm head-tail coupling apparatus. Part of centriolar subdistal appendage. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf61
C14orf145

MANE transcript

NM_152446.5

Inheritance

—

ClinVar variants

U:157B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.66

Max pathogenic AF

—

Genomic locus

chr14:80,476,983-80,959,517

External References & Databases

Ensembl (ENSG00000100629)

Transcript & Mutation Effects

hg38 • Region Span ~482.5 kb

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GenCC 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 CEP128 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 158

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152446.5. 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 clinvar		2 clinvar	3
missense			153 clinvar	11 clinvar	1 clinvar	165
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	157	11	3	171

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 45 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152446.5	RefSeq	NP_689659.2	23	MANE Select
ENST00000555265.6	Ensembl	ENSP00000451162.1	23	MANE Select
ENST00000216517.10	Ensembl	ENSP00000216517.6	12	Standard
ENST00000216517.11	Ensembl	ENSP00000216517.6	12	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
cep128	Danio rerio	Structure: whole organism Quality: dorsalized abnormal

Gene / Model

Organism

Observed Phenotype

cep128

Danio rerio

Structure: whole organism

Quality: dorsalized

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein localization

Cellular Component

spindle pole
centriole
centriolar subdistal appendage

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000555265
Coding exons: 23
Length: 482532
Individuals with no LoFs: 125607
Homozygous LoFs: 1
Heterozygous LoFs: 140
Defined: 125748
p: 0.000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.328	593	571	1.04	0.0000315	7187
Missense (PolyPhen)		152	158.63	0.95819		2218
Synonymous	0.181	199	202	0.984	0.0000101	1947
Loss of Function	2.68	47	71.5	0.658	0.00000440	808

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00093	0.00093	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0.00028	0.00023	rare
European (Non-Finnish)	0.00039	0.00039	rare
South Asian	0.0012	0.0012	notable
Other	0.0011	0.00098	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: -0.68
RVIS percentile EVS: 15.4

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	High
Cancer	Medium	Medium	Medium