CCDC181

coiled-coil domain containing 181

Basic information

Region (hg38): 1:169394869-169460669

Previous symbols: [ "C1orf114" ]

Links

ENSG00000117477 ∙ NCBI:57821 ∙ ∙ HGNC:28051 ∙ Uniprot:Q5TID7 ∙ 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 CCDC181 gene.

• Inborn genetic diseases (24 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC181 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			24			24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	1	0

Variants in CCDC181

This is a list of pathogenic ClinVar variants found in the CCDC181 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-169395120-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-169395190-G-A		not specified	Uncertain significance (May 03, 2023)
1-169395198-C-A		not specified	Uncertain significance (May 05, 2023)
1-169397271-T-C		not specified	Uncertain significance (Jul 12, 2023)
1-169397291-T-A		not specified	Uncertain significance (Oct 26, 2022)
1-169397296-C-G		not specified	Uncertain significance (Oct 12, 2021)
1-169397320-T-G		not specified	Uncertain significance (Sep 16, 2021)
1-169397360-C-T		not specified	Uncertain significance (Aug 29, 2022)
1-169419044-C-G		not specified	Uncertain significance (Jan 05, 2022)
1-169419047-T-G		not specified	Uncertain significance (Dec 06, 2021)
1-169419062-T-C		not specified	Uncertain significance (Aug 02, 2021)
1-169419086-T-G		not specified	Uncertain significance (Aug 03, 2022)
1-169421437-T-C		not specified	Uncertain significance (Jul 09, 2021)
1-169421437-T-G		not specified	Uncertain significance (Mar 29, 2022)
1-169421454-A-G		not specified	Uncertain significance (Mar 04, 2024)
1-169421539-G-A		not specified	Uncertain significance (Feb 28, 2024)
1-169421549-T-C			Likely benign (Jun 01, 2022)
1-169421571-G-A		not specified	Uncertain significance (Jan 11, 2023)
1-169421613-G-A		not specified	Likely benign (May 31, 2022)
1-169421614-T-C		not specified	Likely benign (Dec 18, 2023)
1-169421635-C-T		not specified	Uncertain significance (Apr 18, 2023)
1-169421673-T-C		not specified	Uncertain significance (Dec 16, 2022)
1-169421806-A-G		not specified	Uncertain significance (Nov 21, 2022)
1-169421886-A-G		not specified	Uncertain significance (Mar 01, 2024)
1-169421923-T-C		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC181	protein_coding	protein_coding	ENST00000545005	5	65800

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.95e-10	0.637	125650	0	96	125746	0.000382

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.662	225	255	0.883	0.0000129	3382
Missense in Polyphen		62	73.539	0.8431		1033
Synonymous	-0.422	94	88.9	1.06	0.00000441	881
Loss of Function	1.39	19	26.8	0.710	0.00000175	303

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000784	0.000783
Ashkenazi Jewish	0.00	0.00
East Asian	0.000825	0.000816
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000339	0.000334
Middle Eastern	0.000825	0.000816
South Asian	0.000567	0.000555
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids. {ECO:0000250|UniProtKB:Q80ZU5}.

Recessive Scores

• pRec: 0.0914

Intolerance Scores

• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.6

Haploinsufficiency Scores

• pHI: 0.158
• hipred: N
• hipred_score: 0.153
• ghis: 0.488

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: Ccdc181

Gene ontology

• Cellular component: manchette;cytoplasm;microtubule;sperm flagellum
• Molecular function: microtubule binding