CCDC81

coiled-coil domain containing 81

Basic information

Region (hg38): 11:86374736-86423109

Links

ENSG00000149201 ∙ NCBI:60494 ∙ ∙ HGNC:26281 ∙ Uniprot:Q6ZN84 ∙ 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 CCDC81 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC81 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			40	1		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	1	0

Variants in CCDC81

This is a list of pathogenic ClinVar variants found in the CCDC81 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-86387526-T-C		not specified	Uncertain significance (Jul 19, 2022)
11-86387531-G-C		not specified	Uncertain significance (May 08, 2023)
11-86387574-G-A		not specified	Uncertain significance (Sep 25, 2023)
11-86387610-T-G		not specified	Uncertain significance (Apr 07, 2023)
11-86387615-A-G		not specified	Uncertain significance (Sep 26, 2023)
11-86387657-A-G		not specified	Uncertain significance (Sep 27, 2021)
11-86392555-G-A		not specified	Uncertain significance (Jul 09, 2021)
11-86392559-C-T		not specified	Uncertain significance (Dec 27, 2023)
11-86392649-G-A		not specified	Uncertain significance (Jul 14, 2021)
11-86392670-A-C		not specified	Uncertain significance (Oct 12, 2021)
11-86392682-C-T		not specified	Uncertain significance (Sep 27, 2022)
11-86392712-G-T		not specified	Uncertain significance (Sep 12, 2023)
11-86392713-A-T		not specified	Uncertain significance (Sep 12, 2023)
11-86392733-G-C		not specified	Uncertain significance (Dec 07, 2023)
11-86392745-A-T		not specified	Uncertain significance (Oct 16, 2023)
11-86392759-A-G		not specified	Uncertain significance (Jun 03, 2024)
11-86392760-T-C		not specified	Uncertain significance (Mar 16, 2022)
11-86400709-A-T		not specified	Uncertain significance (Jul 20, 2021)
11-86400711-A-G		not specified	Uncertain significance (Dec 21, 2022)
11-86400776-G-A		not specified	Uncertain significance (Jan 23, 2024)
11-86407618-T-C		not specified	Uncertain significance (Jan 22, 2024)
11-86408181-A-G		not specified	Likely benign (Oct 17, 2023)
11-86408200-A-T		not specified	Uncertain significance (Aug 04, 2023)
11-86408205-G-C		not specified	Uncertain significance (Feb 13, 2024)
11-86408221-T-C		not specified	Uncertain significance (May 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC81	protein_coding	protein_coding	ENST00000445632	15	48374

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.09e-23	0.00257	125616	1	131	125748	0.000525

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.426	327	349	0.936	0.0000185	4303
Missense in Polyphen		73	94.972	0.76864		1248
Synonymous	1.61	106	129	0.820	0.00000688	1172
Loss of Function	0.443	36	39.0	0.923	0.00000226	454

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00128	0.00121
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000872	0.000870
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000511	0.000510
Middle Eastern	0.000872	0.000870
South Asian	0.000931	0.000882
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.995
• rvis_EVS: 1.16
• rvis_percentile_EVS: 92.59

Haploinsufficiency Scores

• pHI: 0.0637
• hipred: N
• hipred_score: 0.199

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0791

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc81

Gene ontology

• Cellular component: cytoplasm;centrosome