CCDC14

coiled-coil domain containing 14

Basic information

Region (hg38): 3:123897305-123961408

Links

ENSG00000175455 ∙ NCBI:64770 ∙ OMIM:617147 ∙ HGNC:25766 ∙ Uniprot:Q49A88 ∙ 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 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			102	6		108
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	102	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC14	protein_coding	protein_coding	ENST00000433542	12	64413

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.80e-15	0.612	125545	0	44	125589	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.782	407	454	0.897	0.0000217	5923
Missense in Polyphen		49	72.254	0.67816		942
Synonymous	1.31	143	164	0.870	0.00000777	1772
Loss of Function	1.69	28	39.5	0.709	0.00000214	516

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000339	0.000337
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.0000927	0.0000925
European (Non-Finnish)	0.000170	0.000167
Middle Eastern	0.000381	0.000381
South Asian	0.000308	0.000294
Other	0.000164	0.000163

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

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

Mouse Genome Informatics

• Gene name: Ccdc14

Gene ontology

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