CCDC191

coiled-coil domain containing 191

Basic information

Region (hg38): 3:113964137-114056594

Previous symbols: [ "KIAA1407" ]

Links

ENSG00000163617 ∙ NCBI:57577 ∙ ∙ HGNC:29272 ∙ Uniprot:Q8NCU4 ∙ 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 CCDC191 gene.

• not_specified (101 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC191 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020817.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			98	3		101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	98	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC191	protein_coding	protein_coding	ENST00000295878	17	92477

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.17e-32	0.0000571	121672	38	4038	125748	0.0163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	401	478	0.839	0.0000243	6195
Missense in Polyphen		93	109.34	0.85056		1529
Synonymous	0.990	155	171	0.904	0.00000874	1654
Loss of Function	0.200	49	50.5	0.970	0.00000252	616

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0195	0.0196
Ashkenazi Jewish	0.0276	0.0275
East Asian	0.0255	0.0256
Finnish	0.0139	0.0138
European (Non-Finnish)	0.0206	0.0205
Middle Eastern	0.0255	0.0256
South Asian	0.00518	0.00511
Other	0.0168	0.0166

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.32
• rvis_percentile_EVS: 72.8

Haploinsufficiency Scores

• pHI: 0.0489
• hipred: N
• hipred_score: 0.123
• ghis: 0.465

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ccdc191