CCDC184

coiled-coil domain containing 184

Basic information

Region (hg38): 12:48183643-48185926

Previous symbols: [ "C12orf68" ]

Links

ENSG00000177875 ∙ NCBI:387856 ∙ ∙ HGNC:33749 ∙ Uniprot:Q52MB2 ∙ 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 CCDC184 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC184 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in CCDC184

This is a list of pathogenic ClinVar variants found in the CCDC184 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-48184142-A-G		not specified	Uncertain significance (Feb 13, 2023)
12-48184151-C-T		not specified	Uncertain significance (Sep 17, 2021)
12-48184189-T-C		not specified	Uncertain significance (Dec 20, 2021)
12-48184250-T-C		not specified	Uncertain significance (Jul 13, 2022)
12-48184272-G-C		not specified	Uncertain significance (May 09, 2023)
12-48184427-T-C		not specified	Uncertain significance (Aug 26, 2022)
12-48184493-G-A		not specified	Uncertain significance (Aug 22, 2023)
12-48184504-A-G		not specified	Uncertain significance (Jan 16, 2024)
12-48184505-G-A		not specified	Uncertain significance (Jan 30, 2024)
12-48184534-G-C		not specified	Uncertain significance (Nov 08, 2022)
12-48184535-A-C		not specified	Uncertain significance (May 26, 2022)
12-48184651-C-A		not specified	Uncertain significance (Nov 09, 2021)
12-48184691-G-A		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC184	protein_coding	protein_coding	ENST00000316554	1	2344

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00175	0.489	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0361	116	115	1.01	0.00000515	1247
Missense in Polyphen		55	56.077	0.98079		621
Synonymous	-0.452	55	50.9	1.08	0.00000240	398
Loss of Function	0.0579	4	4.13	0.969	1.76e-7	46

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: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.322
• ghis: 0.532

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ccdc184

Gene ontology

• Cellular component: cytoplasm
• Molecular function: protein binding