CCDC168

coiled-coil domain containing 168

Basic information

Region (hg38): 13:102729366-102759072

Previous symbols: [ "C13orf40" ]

Links

ENSG00000175820 ∙ NCBI:643677 ∙ ∙ HGNC:26851 ∙ Uniprot:Q8NDH2 ∙ 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 CCDC168 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC168 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				11	4	15
missense			338	57	8	403
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	339	68	12

Variants in CCDC168

This is a list of pathogenic ClinVar variants found in the CCDC168 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-102729491-C-G		not specified	Uncertain significance (Jan 19, 2024)
13-102729492-C-G		not specified	Uncertain significance (Feb 27, 2024)
13-102729581-T-C		not specified	Uncertain significance (Apr 07, 2023)
13-102729612-G-T		not specified	Uncertain significance (May 01, 2024)
13-102729662-T-G		not specified	Uncertain significance (Jan 23, 2023)
13-102729801-G-A		not specified	Uncertain significance (Dec 13, 2023)
13-102729852-C-A		not specified	Uncertain significance (May 23, 2023)
13-102729996-C-T		not specified	Uncertain significance (Jan 23, 2024)
13-102730037-G-A		not specified	Likely benign (Jul 14, 2021)
13-102730040-G-C		not specified	Uncertain significance (Sep 29, 2023)
13-102730054-A-G			Likely benign (Mar 01, 2020)
13-102730060-C-A		not specified	Uncertain significance (Mar 21, 2023)
13-102730106-C-T		not specified	Uncertain significance (Dec 02, 2022)
13-102730133-G-A		not specified	Uncertain significance (Jan 17, 2024)
13-102730145-G-T		not specified	Uncertain significance (Apr 25, 2023)
13-102730310-A-G			Likely benign (Dec 01, 2022)
13-102730347-A-G		not specified	Uncertain significance (Jun 03, 2024)
13-102730374-T-C		not specified	Uncertain significance (Aug 30, 2021)
13-102730461-C-G		not specified	Uncertain significance (Dec 15, 2023)
13-102730464-C-A		not specified	Likely benign (Aug 08, 2023)
13-102730479-T-G		not specified	Uncertain significance (Feb 22, 2024)
13-102730578-G-A		not specified	Uncertain significance (Mar 01, 2024)
13-102730796-G-A		not specified	Likely benign (Oct 03, 2023)
13-102730826-C-T		not specified	Uncertain significance (Nov 21, 2023)
13-102730827-G-T		not specified	Uncertain significance (Feb 06, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC168	protein_coding	protein_coding	ENST00000322527	1	7359

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000128	1.00	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.34	973	1.20e+3	0.810	0.0000588	16093
Missense in Polyphen		20	29.663	0.67424		337
Synonymous	3.23	356	442	0.805	0.0000229	4656
Loss of Function	3.07	16	35.8	0.447	0.00000174	519

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

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gm8251