CCDC86

coiled-coil domain containing 86

Basic information

Region (hg38): 11:60842113-60851081

Links

ENSG00000110104 ∙ NCBI:79080 ∙ OMIM:611293 ∙ HGNC:28359 ∙ Uniprot:Q9H6F5 ∙ 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 CCDC86 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC86 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			29	1		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	1	0

Variants in CCDC86

This is a list of pathogenic ClinVar variants found in the CCDC86 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-60842171-C-T		not specified	Uncertain significance (Sep 17, 2021)
11-60842213-G-A		not specified	Uncertain significance (May 16, 2022)
11-60842213-G-T		not specified	Uncertain significance (Jul 28, 2021)
11-60842272-A-T		not specified	Uncertain significance (Jul 19, 2023)
11-60842389-G-A		not specified	Uncertain significance (Dec 26, 2023)
11-60842403-G-C		not specified	Uncertain significance (Dec 27, 2023)
11-60842404-C-G		not specified	Uncertain significance (Dec 20, 2023)
11-60842432-C-T		not specified	Uncertain significance (Jan 26, 2022)
11-60842539-G-A		not specified	Uncertain significance (Jun 22, 2023)
11-60842540-C-T		not specified	Uncertain significance (Mar 31, 2024)
11-60842564-C-T		not specified	Uncertain significance (Nov 03, 2023)
11-60842569-G-A		not specified	Uncertain significance (Jun 10, 2024)
11-60842570-C-G		not specified	Uncertain significance (May 17, 2023)
11-60842576-A-G		not specified	Likely benign (Feb 06, 2023)
11-60842588-C-T		not specified	Uncertain significance (Jun 11, 2024)
11-60842642-A-T		not specified	Uncertain significance (Nov 17, 2023)
11-60842669-C-T		not specified	Uncertain significance (Aug 08, 2022)
11-60842707-C-T		not specified	Uncertain significance (Dec 09, 2023)
11-60842734-A-G		not specified	Uncertain significance (Aug 01, 2022)
11-60842870-G-A		not specified	Uncertain significance (Oct 17, 2023)
11-60848019-G-A		not specified	Uncertain significance (Oct 05, 2023)
11-60848036-A-G		not specified	Uncertain significance (Feb 02, 2024)
11-60848045-C-T		not specified	Uncertain significance (Dec 06, 2021)
11-60848046-G-A		not specified	Uncertain significance (Jun 12, 2023)
11-60849953-G-A		not specified	Uncertain significance (Aug 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC86	protein_coding	protein_coding	ENST00000227520	4	9011

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000167	0.882	125652	0	95	125747	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.485	199	219	0.908	0.0000125	2258
Missense in Polyphen		59	67.341	0.87614		666
Synonymous	-0.237	96	93.1	1.03	0.00000460	790
Loss of Function	1.49	10	16.6	0.604	9.00e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000474	0.000462
European (Non-Finnish)	0.000715	0.000677
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000654	0.0000653
Other	0.000342	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0941

Intolerance Scores

• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.63

Haploinsufficiency Scores

• pHI: 0.183
• hipred: N
• hipred_score: 0.179
• ghis: 0.434

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.919

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc86
• Phenotype: cellular phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype

Gene ontology

• Biological process: viral process
• Cellular component: nucleus;nucleolus
• Molecular function: RNA binding;protein binding