CCDC180

coiled-coil domain containing 180, the group of Cilia and flagella associated

Basic information

Region (hg38): 9:97307303-97378751

Previous symbols: [ "KIAA1529", "C9orf174" ]

Links

ENSG00000197816 ∙ NCBI:100499483 ∙ ∙ HGNC:29303 ∙ Uniprot:Q9P1Z9 ∙ 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 CCDC180 gene.

• Inborn genetic diseases (71 variants)
• not provided (12 variants)
• Mycotic Aneurysm, Intracranial (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC180 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				8		8
missense			60	10	1	71
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	1		3
Total	0	0	62	19	1

Variants in CCDC180

This is a list of pathogenic ClinVar variants found in the CCDC180 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-97307775-G-A		not specified	Likely benign (Oct 14, 2021)
9-97307781-C-G		not specified	Uncertain significance (Jul 11, 2023)
9-97307786-C-G		not specified	Uncertain significance (Aug 13, 2021)
9-97308078-G-A			Likely benign (Jul 01, 2022)
9-97308109-T-A		not specified	Uncertain significance (Feb 27, 2023)
9-97308117-G-C		not specified	Uncertain significance (Jan 17, 2023)
9-97309463-G-C		not specified	Uncertain significance (Oct 04, 2022)
9-97309509-G-A			Likely benign (Nov 01, 2022)
9-97309541-G-A		not specified	Uncertain significance (Mar 28, 2023)
9-97309555-A-T		not specified	Uncertain significance (Jun 07, 2023)
9-97309561-A-G		not specified	Uncertain significance (Oct 27, 2023)
9-97312151-G-A		not specified	Uncertain significance (Nov 27, 2023)
9-97312168-G-A		not specified	Uncertain significance (Jun 02, 2023)
9-97312196-C-G		not specified	Uncertain significance (Feb 13, 2024)
9-97313238-C-T		not specified	Uncertain significance (Aug 03, 2022)
9-97313248-T-C		not specified	Uncertain significance (Oct 05, 2023)
9-97313272-A-G		not specified	Likely benign (Dec 20, 2021)
9-97313298-G-A		not specified	Uncertain significance (Mar 22, 2023)
9-97314501-C-G		not specified	Uncertain significance (Oct 05, 2022)
9-97314507-G-A		not specified	Uncertain significance (Nov 08, 2022)
9-97314699-C-T		not specified	Uncertain significance (Dec 27, 2022)
9-97314867-A-G		not specified	Uncertain significance (Dec 01, 2022)
9-97314888-A-C		not specified	Uncertain significance (Aug 09, 2021)
9-97314908-C-T		not specified	Uncertain significance (Feb 27, 2024)
9-97314942-C-A		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC180	protein_coding	protein_coding	ENST00000375202	37	140042

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.53e-40	0.0154	125357	0	391	125748	0.00156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.779	854	920	0.928	0.0000509	11273
Missense in Polyphen		100	110.35	0.90619		1421
Synonymous	0.166	360	364	0.989	0.0000206	3087
Loss of Function	2.18	75	98.3	0.763	0.00000538	1118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00407	0.00407
Ashkenazi Jewish	0.000893	0.000893
East Asian	0.00126	0.00125
Finnish	0.000417	0.000416
European (Non-Finnish)	0.00168	0.00167
Middle Eastern	0.00126	0.00125
South Asian	0.00134	0.00127
Other	0.00164	0.00163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0829

Intolerance Scores

• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.78

Haploinsufficiency Scores

• pHI: 0.340
• hipred: N
• hipred_score: 0.233
• ghis: 0.493

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc180

Gene ontology

• Cellular component: extracellular exosome