CCDC126

coiled-coil domain containing 126

Basic information

Region (hg38): 7:23597382-23644708

Links

ENSG00000169193 ∙ NCBI:90693 ∙ ∙ HGNC:22398 ∙ Uniprot:Q96EE4 ∙ 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 CCDC126 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC126 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in CCDC126

This is a list of pathogenic ClinVar variants found in the CCDC126 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-23611373-G-A		not specified	Uncertain significance (Mar 20, 2024)
7-23611406-C-T		not specified	Uncertain significance (Mar 07, 2024)
7-23611485-T-C		not specified	Uncertain significance (Dec 14, 2023)
7-23611496-G-A		not specified	Uncertain significance (Jan 30, 2024)
7-23611521-A-T		not specified	Uncertain significance (Aug 21, 2023)
7-23611532-G-A		not specified	Uncertain significance (Jul 26, 2022)
7-23611532-G-T		not specified	Uncertain significance (Aug 03, 2022)
7-23611548-G-C		not specified	Uncertain significance (Mar 29, 2024)
7-23642985-T-C		not specified	Uncertain significance (Mar 24, 2023)
7-23642995-G-C		not specified	Uncertain significance (Dec 03, 2021)
7-23643017-G-C		not specified	Uncertain significance (Apr 20, 2024)
7-23643042-C-G		not specified	Uncertain significance (Jun 05, 2023)
7-23643045-A-G		not specified	Uncertain significance (Dec 02, 2021)
7-23643048-G-A		not specified	Uncertain significance (Feb 07, 2023)
7-23643095-G-C		not specified	Uncertain significance (May 20, 2024)
7-23643101-G-A		not specified	Uncertain significance (Mar 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC126	protein_coding	protein_coding	ENST00000307471	2	47330

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.119	0.788	125727	0	6	125733	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.560	61	74.6	0.818	0.00000381	908
Missense in Polyphen		13	23.523	0.55266		311
Synonymous	0.0413	29	29.3	0.990	0.00000157	277
Loss of Function	1.33	2	5.32	0.376	3.22e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.357
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.242
• hipred: N
• hipred_score: 0.398
• ghis: 0.529

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: Ccdc126

Gene ontology

• Cellular component: extracellular region;membrane