CCDC27

coiled-coil domain containing 27

Basic information

Region (hg38): 1:3746460-3771645

Links

ENSG00000162592 ∙ NCBI:148870 ∙ ∙ HGNC:26546 ∙ Uniprot:Q2M243 ∙ 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 CCDC27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC27 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				2		2
missense			46	6	1	53
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	46	8	1

Variants in CCDC27

This is a list of pathogenic ClinVar variants found in the CCDC27 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-3752536-C-T		not specified	Uncertain significance (Feb 13, 2024)
1-3752545-C-T		not specified	Likely benign (Aug 02, 2023)
1-3752654-C-T		not specified	Likely benign (Nov 13, 2023)
1-3752683-G-C		not specified	Uncertain significance (Jan 03, 2024)
1-3752700-G-A		not specified	Uncertain significance (Apr 25, 2023)
1-3752714-C-A		not specified	Uncertain significance (Dec 18, 2023)
1-3752792-G-A			Benign (May 04, 2018)
1-3752794-A-G		not specified	Uncertain significance (May 02, 2024)
1-3754145-A-G		not specified	Uncertain significance (Oct 12, 2021)
1-3754148-G-A		not specified	Likely benign (Aug 09, 2021)
1-3754173-G-A		not specified	Uncertain significance (Mar 28, 2024)
1-3754188-C-T		not specified	Uncertain significance (Jun 12, 2023)
1-3754200-G-A		not specified	Uncertain significance (Mar 17, 2023)
1-3754207-G-C		not specified	Uncertain significance (Oct 16, 2023)
1-3755490-T-C		not specified	Uncertain significance (Feb 22, 2023)
1-3755495-A-G		not specified	Uncertain significance (Apr 20, 2024)
1-3755561-G-C		not specified	Likely benign (Jul 13, 2021)
1-3756781-G-A		not specified	Uncertain significance (Apr 28, 2022)
1-3756811-C-T		not specified	Uncertain significance (Apr 25, 2022)
1-3756813-G-T		not specified	Uncertain significance (Oct 26, 2021)
1-3756852-A-G		not specified	Uncertain significance (Oct 10, 2023)
1-3756854-G-C		not specified	Uncertain significance (Feb 10, 2022)
1-3756859-T-C		not specified	Likely benign (Jun 17, 2022)
1-3756860-G-A		not specified	Uncertain significance (Dec 06, 2022)
1-3761326-G-A		not specified	Uncertain significance (Mar 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC27	protein_coding	protein_coding	ENST00000294600	12	19248

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.87e-28	0.0000285	125464	1	283	125748	0.00113

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0610	368	365	1.01	0.0000209	4284
Missense in Polyphen		66	68.356	0.96553		824
Synonymous	-0.788	174	161	1.08	0.0000106	1234
Loss of Function	-0.563	40	36.3	1.10	0.00000196	384

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00209	0.00208
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.00236	0.00234
Finnish	0.000185	0.000185
European (Non-Finnish)	0.00111	0.00111
Middle Eastern	0.00236	0.00234
South Asian	0.00181	0.00177
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0951

Intolerance Scores

• loftool: 0.969
• rvis_EVS: 2.63
• rvis_percentile_EVS: 98.8

Haploinsufficiency Scores

• pHI: 0.0770
• hipred: N
• hipred_score: 0.123
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.000821

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc27