CCDC110

coiled-coil domain containing 110

Basic information

Region (hg38): 4:185445182-185471752

Links

ENSG00000168491 ∙ NCBI:256309 ∙ OMIM:609488 ∙ HGNC:28504 ∙ Uniprot:Q8TBZ0 ∙ 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 CCDC110 gene.

• not_specified (98 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC110 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152775.4. 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			92	5		97
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	92	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC110	protein_coding	protein_coding	ENST00000307588	7	26578

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.10e-19	0.0100	125329	0	419	125748	0.00167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.623	365	400	0.912	0.0000185	5591
Missense in Polyphen		92	101.52	0.90618		1658
Synonymous	0.279	135	139	0.970	0.00000698	1397
Loss of Function	0.474	30	32.9	0.911	0.00000162	473

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00751	0.00743
Ashkenazi Jewish	0.000305	0.000298
East Asian	0.000682	0.000653
Finnish	0.0000946	0.0000924
European (Non-Finnish)	0.00127	0.00120
Middle Eastern	0.000682	0.000653
South Asian	0.000995	0.000948
Other	0.00199	0.00196

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0833

Intolerance Scores

• loftool: 0.996
• rvis_EVS: 3
• rvis_percentile_EVS: 99.22

Haploinsufficiency Scores

• pHI: 0.0911
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0523

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc110

Gene ontology

• Cellular component: nucleus
• Molecular function: protein binding