CCDC14

coiled-coil domain containing 14

Basic information

Region (hg38): 3:123897305-123961408

Links

ENSG00000175455NCBI:64770OMIM:617147HGNC:25766Uniprot:Q49A88AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC14 gene.

  • not_specified (108 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001366335.1. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
102
clinvar
6
clinvar
108
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 102 6 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCDC14protein_codingprotein_codingENST00000433542 1264413
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
7.80e-150.6121255450441255890.000175
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7824074540.8970.00002175923
Missense in Polyphen4972.2540.67816942
Synonymous1.311431640.8700.000007771772
Loss of Function1.692839.50.7090.00000214516

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003390.000337
Ashkenazi Jewish0.000.00
East Asian0.0003810.000381
Finnish0.00009270.0000925
European (Non-Finnish)0.0001700.000167
Middle Eastern0.0003810.000381
South Asian0.0003080.000294
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization. {ECO:0000269|PubMed:24613305, ECO:0000269|PubMed:26297806}.;

Recessive Scores

pRec
0.0817

Intolerance Scores

loftool
0.985
rvis_EVS
-0.38
rvis_percentile_EVS
28.11

Haploinsufficiency Scores

pHI
0.0738
hipred
N
hipred_score
0.123
ghis
0.570

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.341

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccdc14
Phenotype

Gene ontology

Biological process
substantia nigra development;protein localization to centrosome
Cellular component
centrosome;centriolar satellite
Molecular function
protein binding