CCDC167

coiled-coil domain containing 167

Basic information

Region (hg38): 6:37482937-37499893

Previous symbols: [ "C6orf129" ]

Links

ENSG00000198937 ∙ NCBI:154467 ∙ ∙ HGNC:21239 ∙ Uniprot:Q9P0B6 ∙ 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 CCDC167 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC167 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						0
missense			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in CCDC167

This is a list of pathogenic ClinVar variants found in the CCDC167 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-37483208-A-G		not specified	Uncertain significance (Nov 21, 2022)
6-37483212-G-A		not specified	Uncertain significance (Jul 20, 2021)
6-37483289-T-C		not specified	Uncertain significance (Mar 07, 2024)
6-37484819-A-C		not specified	Uncertain significance (Dec 21, 2023)
6-37484824-T-C		not specified	Uncertain significance (Dec 14, 2022)
6-37485121-C-T		not specified	Likely benign (Jun 24, 2022)
6-37485122-G-A		not specified	Uncertain significance (Nov 07, 2022)
6-37499857-T-C		not specified	Uncertain significance (Dec 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC167	protein_coding	protein_coding	ENST00000373408	4	17003

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.65e-7	0.0675	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.164	55	58.5	0.940	0.00000359	629
Missense in Polyphen		13	14.515	0.89562		197
Synonymous	-0.854	29	23.7	1.22	0.00000127	187
Loss of Function	-1.22	8	5.05	1.58	2.13e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000553	0.000553
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

• pHI: 0.224
• hipred: N
• hipred_score: 0.170
• ghis: 0.627

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc167

Gene ontology

• Cellular component: integral component of membrane