CCDC157

coiled-coil domain containing 157

Basic information

Region (hg38): 22:30356635-30378673

Links

ENSG00000187860 ∙ NCBI:550631 ∙ OMIM:619391 ∙ HGNC:33854 ∙ Uniprot:Q569K6 ∙ 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 CCDC157 gene.

• not_specified (137 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC157 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001017437.5. 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				1		1
missense			128	9		137
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	128	10	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC157	protein_coding	protein_coding	ENST00000405659	10	22024

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.16e-22	0.000885	125662	0	86	125748	0.000342

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.526	416	447	0.930	0.0000291	4784
Missense in Polyphen		140	158.25	0.88466		1897
Synonymous	0.804	177	191	0.926	0.0000120	1556
Loss of Function	-0.122	32	31.3	1.02	0.00000153	327

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000736	0.000665
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.000329	0.000326
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000324	0.000316
Middle Eastern	0.000329	0.000326
South Asian	0.000806	0.000784
Other	0.000176	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.889
• rvis_EVS: 0.3
• rvis_percentile_EVS: 71.7

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.461

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00503

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc157