C18orf54

chromosome 18 open reading frame 54

Basic information

Region (hg38): 18:54357906-54385218

Links

ENSG00000166845

∙ NCBI:162681 ∙ OMIM:613258 ∙ HGNC:13796 ∙ Uniprot:Q8IYD9 ∙ 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 C18orf54 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C18orf54 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				1 clinvar		1
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in C18orf54

This is a list of pathogenic ClinVar variants found in the C18orf54 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-54362334-T-C			Likely benign (Jan 01, 2023)	2648732

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C18orf54	protein_coding	protein_coding	ENST00000300091	7	27302

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000187	0.693	125712	0	22	125734	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.568	218	196	1.11	0.00000992	2461
Missense in Polyphen		62	53.729	1.1539		758
Synonymous	0.352	67	70.8	0.947	0.00000359	679
Loss of Function	1.11	11	15.8	0.698	7.44e-7	227

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000348	0.000342
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000591	0.0000544
Finnish	0.0000473	0.0000462
European (Non-Finnish)	0.000108	0.000106
Middle Eastern	0.0000591	0.0000544
South Asian	0.0000363	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Might play a role in cell proliferation. {ECO:0000250}.;

Recessive Scores

pRec: 0.0786

Intolerance Scores

loftool: 0.470
rvis_EVS: -0.07
rvis_percentile_EVS: 48.69

Haploinsufficiency Scores

pHI: 0.0579
hipred: N
hipred_score: 0.123
ghis: 0.522

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: 4930503L19Rik
Phenotype