C18orf54

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			3 clinvar			3
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	4	1	0	5

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001288980.2	RefSeq	NP_001275909.1	7	MANE Select
ENST00000620105.5	Ensembl	ENSP00000477654.1	7	MANE Select
NM_001288981.2	RefSeq	NP_001275910.1	7	Standard
NM_001288982.2	RefSeq	NP_001275911.1	7	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000300091
Coding exons: 7
Length: 27302
Individuals with no LoFs: 125712
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125734
p: 0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.568	218	196	1.11	0.00000992	2461
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000095	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000059	0.000054	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.000036	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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