CCDC43

coiled-coil domain containing 43

Basic information

Region (hg38): 17:44673068-44689779

Links

ENSG00000180329 ∙ NCBI:124808 ∙ ∙ HGNC:26472 ∙ Uniprot:Q96MW1 ∙ 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 CCDC43 gene.

• Inborn genetic diseases (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC43 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in CCDC43

This is a list of pathogenic ClinVar variants found in the CCDC43 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-44678875-C-T		not specified	Likely benign (Mar 01, 2023)
17-44678927-C-G		not specified	Uncertain significance (Feb 10, 2022)
17-44678945-T-C		not specified	Uncertain significance (May 27, 2022)
17-44678945-T-G		not specified	Uncertain significance (Dec 16, 2023)
17-44679001-C-T		not specified	Uncertain significance (Jul 26, 2021)
17-44680599-A-G		not specified	Uncertain significance (Oct 03, 2022)
17-44689569-C-T		not specified	Uncertain significance (Jun 05, 2023)
17-44689629-G-A		not specified	Uncertain significance (Jun 17, 2022)
17-44689642-C-T		not specified	Uncertain significance (May 05, 2023)
17-44689698-C-T		not specified	Uncertain significance (Nov 13, 2023)
17-44689707-T-G		not specified	Uncertain significance (Jan 03, 2024)
17-44689722-G-T		not specified	Uncertain significance (Jun 05, 2023)
17-44689723-C-A		not specified	Uncertain significance (Feb 28, 2024)
17-44689729-C-G		not specified	Uncertain significance (Jan 05, 2022)
17-44689734-A-T		not specified	Uncertain significance (Aug 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC43	protein_coding	protein_coding	ENST00000315286	5	16711

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000288	0.943	124620	0	19	124639	0.0000762

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.300	113	122	0.924	0.00000611	1441
Missense in Polyphen		28	29.317	0.95508		395
Synonymous	0.531	43	47.7	0.902	0.00000215	437
Loss of Function	1.71	8	15.2	0.527	0.00000110	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000245	0.000245
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000802	0.0000796
Middle Eastern	0.0000556	0.0000556
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0826

Intolerance Scores

• loftool: 0.530
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.42

Haploinsufficiency Scores

• pHI: 0.208
• hipred: N
• hipred_score: 0.229
• ghis: 0.608

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc43

Gene ontology

• Cellular component: cytosol
• Molecular function: protein binding