CCDC68

coiled-coil domain containing 68

Basic information

Region (hg38): 18:54901509-54959461

Links

ENSG00000166510 ∙ NCBI:80323 ∙ OMIM:616909 ∙ HGNC:24350 ∙ Uniprot:Q9H2F9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC68 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC68 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in CCDC68

This is a list of pathogenic ClinVar variants found in the CCDC68 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-54907828-G-C		not specified	Uncertain significance (Jan 03, 2024)
18-54907861-T-C		not specified	Uncertain significance (Nov 25, 2024)
18-54919284-C-CT		Recurrent spontaneous abortion	Likely pathogenic (Jan 27, 2020)
18-54919288-G-A		not specified	Uncertain significance (Feb 27, 2024)
18-54919288-G-C		not specified	Uncertain significance (Mar 31, 2022)
18-54919288-G-T		not specified	Uncertain significance (Dec 20, 2023)
18-54919327-G-A		not specified	Uncertain significance (Nov 24, 2024)
18-54919333-T-G		not specified	Uncertain significance (Dec 12, 2023)
18-54919345-G-A		not specified	Uncertain significance (Dec 16, 2023)
18-54928860-C-A		not specified	Uncertain significance (Jan 08, 2024)
18-54934891-C-T		not specified	Uncertain significance (Jun 25, 2024)
18-54934914-T-A		not specified	Uncertain significance (Nov 18, 2023)
18-54934930-C-T		not specified	Uncertain significance (Feb 27, 2024)
18-54936885-G-A		not specified	Uncertain significance (Jan 23, 2023)
18-54936892-A-G		not specified	Uncertain significance (Nov 27, 2024)
18-54936949-A-G		not specified	Uncertain significance (Apr 08, 2023)
18-54938061-T-A		not specified	Uncertain significance (Aug 13, 2021)
18-54938085-G-C		not specified	Uncertain significance (Jan 04, 2022)
18-54941079-C-T		not specified	Uncertain significance (Dec 28, 2022)
18-54942680-T-C		not specified	Uncertain significance (May 30, 2024)
18-54942689-C-T		not specified	Uncertain significance (Sep 01, 2021)
18-54942715-G-A		not specified	Uncertain significance (Sep 07, 2022)
18-54942716-T-C		not specified	Uncertain significance (Aug 07, 2024)
18-54942740-C-T		not specified	Uncertain significance (May 05, 2023)
18-54942755-T-C		not specified	Uncertain significance (Jun 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC68	protein_coding	protein_coding	ENST00000591504	10	58000

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.71e-13	0.0391	125656	0	92	125748	0.000366

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.182	168	161	1.04	0.00000774	2216
Missense in Polyphen		30	36.64	0.81877		542
Synonymous	0.394	55	58.8	0.935	0.00000298	581
Loss of Function	0.156	19	19.7	0.962	9.01e-7	254

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000370	0.000368
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.000225	0.000217
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000533	0.000528
Middle Eastern	0.000225	0.000217
South Asian	0.000394	0.000392
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). {ECO:0000269|PubMed:28422092}.

Recessive Scores

• pRec: 0.0838

Intolerance Scores

• loftool: 0.973
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.82

Haploinsufficiency Scores

• pHI: 0.0717
• hipred: N
• hipred_score: 0.123
• ghis: 0.446

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0820

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc68

Gene ontology

• Biological process: protein localization;microtubule anchoring at centrosome;intracellular signal transduction
• Cellular component: centriole;centriolar subdistal appendage
• Molecular function: protein binding