CCDC77

coiled-coil domain containing 77

Basic information

Region (hg38): 12:389273-442642

Links

ENSG00000120647 ∙ NCBI:84318 ∙ ∙ HGNC:28203 ∙ Uniprot:Q9BR77 ∙ 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 CCDC77 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC77 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				1		1
missense			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	27	2	0

Variants in CCDC77

This is a list of pathogenic ClinVar variants found in the CCDC77 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-409396-C-T		not specified	Uncertain significance (Apr 08, 2024)
12-411782-G-A		not specified	Uncertain significance (Dec 12, 2023)
12-411810-A-G			Likely benign (Mar 01, 2023)
12-411817-C-G		not specified	Likely benign (Dec 16, 2023)
12-411830-C-T		not specified	Uncertain significance (Dec 13, 2022)
12-411851-G-A		not specified	Uncertain significance (Mar 20, 2023)
12-411952-C-T		not specified	Uncertain significance (Dec 06, 2021)
12-411963-A-C		not specified	Uncertain significance (Apr 12, 2022)
12-418554-C-A		not specified	Uncertain significance (Jan 17, 2024)
12-418564-T-C		not specified	Uncertain significance (Sep 29, 2023)
12-428824-G-C		not specified	Uncertain significance (May 04, 2023)
12-428827-G-A		not specified	Uncertain significance (Apr 20, 2023)
12-428848-A-G		not specified	Uncertain significance (Feb 06, 2023)
12-430734-C-G		not specified	Uncertain significance (Oct 27, 2023)
12-431917-A-G		not specified	Uncertain significance (Jul 19, 2023)
12-431936-A-G		not specified	Uncertain significance (Jun 09, 2022)
12-431947-T-A		not specified	Uncertain significance (May 02, 2024)
12-433211-A-G		not specified	Likely benign (Jun 10, 2024)
12-433217-C-T		not specified	Uncertain significance (Mar 25, 2024)
12-433237-C-T		not specified	Uncertain significance (Jun 02, 2023)
12-433253-G-A		not specified	Uncertain significance (Sep 06, 2022)
12-433301-A-C		not specified	Uncertain significance (Aug 17, 2022)
12-438526-G-A		not specified	Uncertain significance (Aug 08, 2023)
12-438542-T-A		not specified	Uncertain significance (Dec 21, 2022)
12-438550-T-A		not specified	Uncertain significance (Jan 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC77	protein_coding	protein_coding	ENST00000239830	11	53373

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.03e-20	0.00385	125570	0	178	125748	0.000708

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.312	252	266	0.946	0.0000146	3206
Missense in Polyphen		98	90.093	1.0878		1116
Synonymous	0.326	86	89.9	0.956	0.00000434	873
Loss of Function	0.189	30	31.1	0.964	0.00000179	358

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00232	0.00232
Ashkenazi Jewish	0.00	0.00
East Asian	0.000383	0.000381
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000590	0.000589
Middle Eastern	0.000383	0.000381
South Asian	0.000918	0.000915
Other	0.000821	0.000815

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.999
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.47

Haploinsufficiency Scores

• pHI: 0.0549
• hipred: N
• hipred_score: 0.144
• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0932

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc77
• Phenotype: skeleton phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Cellular component: centrosome;membrane