CCDC185

coiled-coil domain containing 185

Basic information

Region (hg38): 1:223393415-223395465

Previous symbols: [ "C1orf65" ]

Links

ENSG00000178395 ∙ NCBI:164127 ∙ ∙ HGNC:26654 ∙ Uniprot:Q8N715 ∙ 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 CCDC185 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC185 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			65	1		66
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	65	1	0

Variants in CCDC185

This is a list of pathogenic ClinVar variants found in the CCDC185 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-223393512-C-T		not specified	Uncertain significance (Aug 05, 2024)
1-223393542-G-A		not specified	Uncertain significance (Dec 03, 2021)
1-223393549-G-T		not specified	Uncertain significance (May 31, 2023)
1-223393567-T-C		not specified	Uncertain significance (Jan 23, 2024)
1-223393584-G-A		not specified	Uncertain significance (Nov 09, 2024)
1-223393590-G-A		not specified	Uncertain significance (Nov 03, 2022)
1-223393594-C-T		not specified	Uncertain significance (Jul 11, 2023)
1-223393609-G-A		not specified	Uncertain significance (Jan 24, 2023)
1-223393614-G-C		not specified	Uncertain significance (Sep 26, 2023)
1-223393621-C-A		not specified	Uncertain significance (Sep 01, 2021)
1-223393663-A-C		not specified	Uncertain significance (Dec 10, 2024)
1-223393675-C-T		not specified	Uncertain significance (Jun 22, 2023)
1-223393717-G-A		not specified	Uncertain significance (Dec 26, 2023)
1-223393749-C-G		not specified	Uncertain significance (Mar 25, 2024)
1-223393762-C-T		not specified	Uncertain significance (Dec 04, 2023)
1-223393806-G-A		not specified	Uncertain significance (Sep 07, 2022)
1-223393828-G-A		not specified	Uncertain significance (Jun 29, 2023)
1-223393870-C-T		not specified	Uncertain significance (May 18, 2022)
1-223393903-G-A		not specified	Uncertain significance (Dec 14, 2023)
1-223393950-G-T		not specified	Uncertain significance (Dec 16, 2023)
1-223393984-A-C		not specified	Uncertain significance (Mar 26, 2024)
1-223394019-C-T		not specified	Uncertain significance (Sep 06, 2022)
1-223394020-G-A		not specified	Uncertain significance (Jan 09, 2024)
1-223394037-G-A		not specified	Uncertain significance (Aug 02, 2021)
1-223394120-C-A		not specified	Uncertain significance (May 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC185	protein_coding	protein_coding	ENST00000366875	1	2098

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.04e-8	0.757	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.894	425	376	1.13	0.0000248	3959
Missense in Polyphen		79	75.318	1.0489		929
Synonymous	-0.372	160	154	1.04	0.00000901	1248
Loss of Function	1.36	14	20.7	0.678	0.00000107	204

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.100

Intolerance Scores

• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.91

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.153
• ghis: 0.437

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ccdc185

Gene ontology

• Molecular function: protein binding