CCDC73

coiled-coil domain containing 73

Basic information

Region (hg38): 11:32602721-32794662

Links

ENSG00000186714 ∙ NCBI:493860 ∙ OMIM:612328 ∙ HGNC:23261 ∙ Uniprot:Q6ZRK6 ∙ 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 CCDC73 gene.

• not_specified (110 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC73 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001008391.4. 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			99	15		114
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	101	15	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC73	protein_coding	protein_coding	ENST00000335185	17	192413

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.77e-19	0.259	124686	0	88	124774	0.000353

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.881	439	494	0.888	0.0000227	7225
Missense in Polyphen		70	95.269	0.73476		1702
Synonymous	-0.0914	175	173	1.01	0.00000841	1793
Loss of Function	1.59	35	46.7	0.750	0.00000204	721

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000691	0.000664
Ashkenazi Jewish	0.00	0.00
East Asian	0.000350	0.000334
Finnish	0.000254	0.000232
European (Non-Finnish)	0.000601	0.000548
Middle Eastern	0.000350	0.000334
South Asian	0.00	0.00
Other	0.000363	0.000330

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.25
• rvis_percentile_EVS: 69.62

Haploinsufficiency Scores

• pHI: 0.257
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0939

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc73