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.

• not_specified (59 variants)

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. These statistics are base on transcript: NM_000024098.4. 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			57	2		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	2	0

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