PRAMEF18

PRAME family member 18, the group of PRAME family

Basic information

Region (hg38): 1:13222695-13226154

Links

ENSG00000279804 ∙ NCBI:391003 ∙ ∙ HGNC:30693 ∙ Uniprot:Q5VWM3 ∙ 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 PRAMEF18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRAMEF18 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			1
missense			43	2		45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				6		6
Total	0	0	44	8	0

Variants in PRAMEF18

This is a list of pathogenic ClinVar variants found in the PRAMEF18 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-13223363-G-G		not specified	Likely benign (Aug 23, 2021)
1-13223386-C-T		not specified	Uncertain significance (Mar 01, 2023)
1-13223428-T-T		not specified	Likely benign (Jan 26, 2022)
1-13223429-T-C		not specified	Uncertain significance (Mar 29, 2022)
1-13223433-G-T		not specified	Uncertain significance (Mar 23, 2023)
1-13223447-C-T		not specified	Uncertain significance (Jan 08, 2025)
1-13223456-C-T		not specified	Uncertain significance (Jul 14, 2021)
1-13223492-A-A		not specified	Likely benign (Jul 26, 2021)
1-13223511-T-T		not specified	Likely benign (Jul 26, 2021)
1-13223526-G-A		not specified	Uncertain significance (Oct 11, 2024)
1-13223562-G-T		not specified	Uncertain significance (Jan 19, 2024)
1-13223585-T-C		not specified	Uncertain significance (Feb 26, 2025)
1-13223594-G-G		not specified	Likely benign (Apr 12, 2022)
1-13223606-G-A		not specified	Uncertain significance (Feb 28, 2024)
1-13223606-G-C		not specified	Uncertain significance (Jul 16, 2021)
1-13223649-G-A		not specified	Uncertain significance (Sep 21, 2021)
1-13223649-G-G		not specified	Likely benign (Apr 28, 2022)
1-13223661-G-A		not specified	Uncertain significance (Sep 10, 2024)
1-13223667-T-C		not specified	Uncertain significance (Apr 18, 2023)
1-13223673-T-C		not specified	Uncertain significance (Dec 17, 2024)
1-13223690-A-G		not specified	Uncertain significance (Apr 18, 2023)
1-13223708-A-G		not specified	Uncertain significance (Dec 12, 2023)
1-13223734-T-A		not specified	Uncertain significance (Jul 14, 2024)
1-13223747-G-A		not specified	Uncertain significance (Feb 27, 2025)
1-13223750-C-T		not specified	Uncertain significance (Apr 04, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0148

Gene Damage Prediction

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

Gene ontology

• Biological process: positive regulation of cell population proliferation;negative regulation of apoptotic process;negative regulation of cell differentiation;negative regulation of transcription, DNA-templated
• Cellular component: cytoplasm