CCDC61

protein-coding

coiled-coil domain containing 61

Gene summary

Enables identical protein binding activity and microtubule binding activity. Involved in centriole assembly and mitotic spindle assembly. Located in centriolar satellite and ciliary basal body. Part of centriolar subdistal appendage. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001267723.2

Inheritance

—

ClinVar variants

U:9B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1

Max pathogenic AF

—

Genomic locus

chr19:45,995,461-46,021,318

External References & Databases

Ensembl (ENSG00000104983)

Transcript & Mutation Effects

hg38 • Region Span ~25.9 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 CCDC61 variants in ClinVar

1 Conditions Cataloged

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001267723.2. 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			1
missense			3 clinvar	1 clinvar		4
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	9	1	0	10

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 49 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001267723.2	RefSeq	NP_001254652.1	13	MANE Select
ENST00000595358.5	Ensembl	ENSP00000471454.1	13	MANE Select
ENST00000536603.5	Ensembl	ENSP00000444279.1	9	Standard
ENST00000536603.6	Ensembl	ENSP00000444279.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

centrosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000595358
Coding exons: 13
Length: 26238
Individuals with no LoFs: 124614
Homozygous LoFs: 0
Heterozygous LoFs: 42
Defined: 124656
p: 0.000168

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.607	227	254	0.893	0.0000154	3176
Missense (PolyPhen)		92	107.72	0.85403		1197
Synonymous	1.25	89	105	0.845	0.00000606	1103
Loss of Function	0.00498	21	21.0	0.999	9.03e-7	291

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00042	0.00039	rare
Latino/Admixed American	0.000088	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00020	0.00019	rare
South Asian	0.00013	0.00013	rare
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.69
RVIS percentile EVS: 85.21

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Indispensability pred.: N
Indispensability score: 0.388

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium