CCDC65

Rationale: Pulmonary surveillance may be beneficial to assess respiratory function and institute early management measures; In order to facilitate mucus clearance, aggressive interventions (eg, chest percussion and oscillatory vest), as well as vaccinations and early and aggressive treatment of respiratory infections may be beneficial; Individuals have been described with congenital heart anomalies, and awareness may enable early diagnosis and management

Refs: 23991085; 24094744

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC65 variants in ClinVar

2 Conditions Cataloged

Primary ciliary dyskinesia 27Total: 11

Anomalous origin of coronary artery from the pulmonary artery;Cough;Clinodactyly of the 5th fingerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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				34 clinvar	5 clinvar	39
missense			96 clinvar	5 clinvar	5 clinvar	106
nonsense	4 clinvar	1 clinvar	1 clinvar			6
start loss			1 clinvar			1
frameshift	7 clinvar	1 clinvar	2 clinvar			10
splice donor/acceptor (+/-2bp)		2 clinvar				2
Total	11	4	100	39	10	164

Highest pathogenic variant AF is 0.000019706

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
ccdc65	Danio rerio	Structure: ciliated olfactory receptor neuron Quality: decreased process quality abnormal

Gene / Model

Organism

Observed Phenotype

ccdc65

Danio rerio

Structure: ciliated olfactory receptor neuron

Quality: decreased process quality

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of cilium movement
cilium assembly
cilium-dependent cell motility
axonemal dynein complex assembly

Molecular Function

molecular_function

Cellular Component

cellular_component
axonemal dynein complex
axoneme
motile cilium

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000320516
Coding exons: 8
Length: 27731
Individuals with no LoFs: 125632
Homozygous LoFs: 0
Heterozygous LoFs: 116
Defined: 125748
p: 0.000461

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.236	265	254	1.04	0.0000128	3231
Missense (PolyPhen)		52	59.872	0.86853		865
Synonymous	1.31	80	96.4	0.830	0.00000464	861
Loss of Function	1.09	19	24.8	0.765	0.00000140	290

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0.0043	0.0043	notable
East Asian	0.00033	0.00033	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00030	0.00030	rare
South Asian	0.00052	0.00052	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of the nexin-dynein regulatory complex (N- DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:24094744). {ECO:0000250|UniProtKB:A8JB22, ECO:0000269|PubMed:24094744}.;

Recessive Scores

pRec: 0.0935

Intolerance Scores

LoFtool: 0.958
RVIS EVS: 1.4
RVIS percentile EVS: 94.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0264

Gene Damage Prediction

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