PRAMEF5

PRAME family member 5, the group of PRAME family

Basic information

Region (hg38): 1:13254197-13263435

Previous symbols: [ "PRAMEF23" ]

Links

ENSG00000270601 ∙ NCBI:343068 ∙ ∙ HGNC:27995 ∙ Uniprot:Q5TYX0 ∙ 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 PRAMEF5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRAMEF5 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						0
missense			15	6		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	6	0

Variants in PRAMEF5

This is a list of pathogenic ClinVar variants found in the PRAMEF5 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-13259317-C-G		not specified	Likely benign (Apr 22, 2022)
1-13259389-A-C		not specified	Likely benign (Apr 28, 2022)
1-13259410-C-T		not specified	Likely benign (Apr 12, 2022)
1-13260260-G-C		not specified	Likely benign (Oct 29, 2021)
1-13260293-T-C		not specified	Uncertain significance (May 12, 2024)
1-13260305-G-C		not specified	Uncertain significance (Aug 12, 2021)
1-13260326-A-C		not specified	Uncertain significance (Jan 03, 2024)
1-13260371-C-G		not specified	Uncertain significance (Oct 26, 2022)
1-13260385-G-A		not specified	Likely benign (Dec 28, 2022)
1-13260416-A-G		not specified	Uncertain significance (Aug 16, 2021)
1-13260458-A-G		not specified	Uncertain significance (Feb 22, 2023)
1-13260656-A-G		not specified	Uncertain significance (Oct 12, 2021)
1-13260671-G-A		not specified	Uncertain significance (Jun 22, 2024)
1-13260737-G-A		not specified	Uncertain significance (Feb 28, 2024)
1-13262638-A-G		not specified	Likely benign (Dec 03, 2021)
1-13262644-C-G		not specified	Uncertain significance (Aug 09, 2021)
1-13262662-C-G		not specified	Uncertain significance (Jan 19, 2022)
1-13262706-A-C		not specified	Uncertain significance (Aug 12, 2021)
1-13262706-A-T		not specified	Uncertain significance (Feb 28, 2023)
1-13262914-C-G		not specified	Uncertain significance (Mar 23, 2022)
1-13262956-C-G		not specified	Uncertain significance (Jul 15, 2021)
1-13263037-T-C		not specified	Uncertain significance (Apr 12, 2022)
1-13263101-G-A		not specified	Uncertain significance (Aug 12, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.114

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

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