CCDC175

coiled-coil domain containing 175

Basic information

Region (hg38): 14:59504539-59576812

Previous symbols: [ "C14orf38" ]

Links

ENSG00000151838 ∙ NCBI:729665 ∙ ∙ HGNC:19847 ∙ Uniprot:P0C221 ∙ 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 CCDC175 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC175 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			39	4		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	4	0

Variants in CCDC175

This is a list of pathogenic ClinVar variants found in the CCDC175 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-59505279-G-T		not specified	Uncertain significance (Dec 28, 2022)
14-59505301-T-C		not specified	Uncertain significance (Jul 11, 2023)
14-59510652-G-A		not specified	Uncertain significance (Aug 12, 2024)
14-59510653-G-C		not specified	Uncertain significance (Jul 17, 2023)
14-59510684-C-T		not specified	Likely benign (Apr 12, 2022)
14-59510712-A-C		not specified	Uncertain significance (Feb 14, 2023)
14-59510729-A-C		not specified	Uncertain significance (Sep 06, 2022)
14-59510732-T-G		not specified	Uncertain significance (Oct 29, 2021)
14-59511765-C-T		not specified	Uncertain significance (May 01, 2024)
14-59521594-C-G		not specified	Uncertain significance (Sep 12, 2023)
14-59525315-A-T		not specified	Likely benign (Oct 06, 2024)
14-59525316-T-G		not specified	Uncertain significance (Jul 16, 2024)
14-59525337-T-C		not specified	Uncertain significance (May 15, 2024)
14-59525344-C-T		not specified	Uncertain significance (Jan 04, 2024)
14-59525403-C-T		not specified	Uncertain significance (Dec 06, 2022)
14-59527102-C-T		not specified	Likely benign (Jul 12, 2023)
14-59531787-T-G		not specified	Uncertain significance (Sep 29, 2023)
14-59531789-A-C		not specified	Uncertain significance (Jan 08, 2024)
14-59531825-T-G		not specified	Uncertain significance (Mar 28, 2023)
14-59531887-T-A		not specified	Uncertain significance (Nov 14, 2023)
14-59538040-C-T		not specified	Uncertain significance (Sep 17, 2021)
14-59538097-T-C		not specified	Uncertain significance (Dec 27, 2022)
14-59538743-G-C		not specified	Likely benign (Dec 12, 2022)
14-59538793-C-T		not specified	Uncertain significance (Aug 21, 2023)
14-59538821-T-G		not specified	Uncertain significance (Mar 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC175	protein_coding	protein_coding	ENST00000537690	20	72293

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.92e-9	0.998	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.13	250	306	0.817	0.0000150	5213
Missense in Polyphen		59	75.354	0.78297		1474
Synonymous	0.693	96	105	0.914	0.00000508	1336
Loss of Function	2.77	20	38.6	0.518	0.00000208	618

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.13
• rvis_percentile_EVS: 97.91

Haploinsufficiency Scores

• pHI: 0.0534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc175