CCDC185

coiled-coil domain containing 185

Basic information

Region (hg38): 1:223393415-223395465

Previous symbols: [ "C1orf65" ]

Links

ENSG00000178395NCBI:164127HGNC:26654Uniprot:Q8N715AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
clinvar
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)3486558
1-223393542-G-A not specified Uncertain significance (Dec 03, 2021)2408911
1-223393549-G-T not specified Uncertain significance (May 31, 2023)2554284
1-223393567-T-C not specified Uncertain significance (Jan 23, 2024)3139006
1-223393584-G-A not specified Uncertain significance (Nov 09, 2024)2290090
1-223393590-G-A not specified Uncertain significance (Nov 03, 2022)2322268
1-223393594-C-T not specified Uncertain significance (Jul 11, 2023)2602636
1-223393609-G-A not specified Uncertain significance (Jan 24, 2023)2478568
1-223393614-G-C not specified Uncertain significance (Sep 26, 2023)3138995
1-223393621-C-A not specified Uncertain significance (Sep 01, 2021)2248393
1-223393663-A-C not specified Uncertain significance (Dec 10, 2024)3486552
1-223393675-C-T not specified Uncertain significance (Jun 22, 2023)2600411
1-223393717-G-A not specified Uncertain significance (Dec 26, 2023)3138997
1-223393749-C-G not specified Uncertain significance (Mar 25, 2024)3264141
1-223393762-C-T not specified Uncertain significance (Dec 04, 2023)3138998
1-223393806-G-A not specified Uncertain significance (Sep 07, 2022)2310956
1-223393828-G-A not specified Uncertain significance (Jun 29, 2023)2592157
1-223393870-C-T not specified Uncertain significance (May 18, 2022)3138999
1-223393903-G-A not specified Uncertain significance (Dec 14, 2023)3139000
1-223393950-G-T not specified Uncertain significance (Dec 16, 2023)3139001
1-223393984-A-C not specified Uncertain significance (Mar 26, 2024)3264142
1-223394019-C-T not specified Uncertain significance (Sep 06, 2022)2310296
1-223394020-G-A not specified Uncertain significance (Jan 09, 2024)3139002
1-223394037-G-A not specified Uncertain significance (Aug 02, 2021)2221322
1-223394120-C-A not specified Uncertain significance (May 09, 2024)3264144

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCDC185protein_codingprotein_codingENST00000366875 12098
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
9.04e-80.75700000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.8944253761.130.00002483959
Missense in Polyphen7975.3181.0489929
Synonymous-0.3721601541.040.000009011248
Loss of Function1.361420.70.6780.00000107204

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.100

Intolerance Scores

loftool
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_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Ccdc185
Phenotype

Gene ontology

Biological process
Cellular component
Molecular function
protein binding