CCDC180

protein-coding

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

Gene summary

The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]

Previous symbols:

KIAA1529
C9orf174

MANE transcript

NM_020893.6

Inheritance

—

ClinVar variants

U:232B:37

Top phenotype

Mycotic Aneurysm, Intracranial

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr9:97,307,304-97,378,751

External References & Databases

Ensembl (ENSG00000197816)

NCBI Gene (100499483)

Transcript & Mutation Effects

hg38 • Region Span ~71.4 kb

Loading mutation effect viewer...

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 CCDC180 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 255

not providedTotal: 17

Mycotic Aneurysm, IntracranialTotal: 1

Breast ductal adenocarcinomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020893.6. 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				8 clinvar		8
missense			232 clinvar	28 clinvar	1 clinvar	261
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	232	36	1	269

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020893.6	RefSeq	NP_065944.3	36	MANE Select
ENST00000529487.3	Ensembl	ENSP00000434727.2	36	MANE Select
NM_001348010.4	RefSeq	NP_001334939.2	19	Standard
ENST00000867263.1	Ensembl	ENSP00000537322.1	33	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375202
Coding exons: 37
Length: 140042
Individuals with no LoFs: 125357
Homozygous LoFs: 0
Heterozygous LoFs: 391
Defined: 125748
p: 0.00156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.779	854	920	0.928	0.0000509	11273
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0016	0.0016	notable
Latino/Admixed American	0.0025	0.0025	notable
Ashkenazi Jewish	0.00089	0.00089	rare
East Asian	0.0013	0.0013	notable
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.0017	0.0017	notable
South Asian	0.0013	0.0013	notable
Other	0.0016	0.0016	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0829

Intolerance Scores

RVIS EVS: -0.13
RVIS percentile EVS: 43.78

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N

Gene Damage Prediction

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