MAGEE1

MAGE family member E1, the group of MAGE family

Basic information

Region (hg38): X:76427710-76431342

Links

ENSG00000198934 ∙ NCBI:57692 ∙ OMIM:300759 ∙ HGNC:24934 ∙ Uniprot:Q9HCI5 ∙ 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 MAGEE1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGEE1 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			36	2	1	39
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	3	1

Variants in MAGEE1

This is a list of pathogenic ClinVar variants found in the MAGEE1 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-76427968-G-A		not specified	Uncertain significance (Aug 18, 2021)
X-76427971-G-C		not specified	Uncertain significance (Mar 04, 2024)
X-76427989-C-T		not specified	Uncertain significance (Dec 06, 2023)
X-76428051-C-G		not specified	Uncertain significance (Apr 15, 2024)
X-76428304-G-A			Benign (Jul 26, 2017)
X-76428316-C-G		not specified	Uncertain significance (Feb 28, 2023)
X-76428316-C-T		not specified	Uncertain significance (Jan 06, 2023)
X-76428325-C-T		not specified	Uncertain significance (Mar 29, 2024)
X-76428384-GTGCCGCCCACCGCCTCTGAGGTACCGAGCACCTCCC-G			Likely benign (Feb 01, 2023)
X-76428412-G-A		not specified	Uncertain significance (Feb 16, 2023)
X-76428429-A-G		not specified	Uncertain significance (Mar 06, 2023)
X-76428460-C-T		not specified	Uncertain significance (Jan 04, 2024)
X-76428607-C-A		not specified	Likely benign (Feb 02, 2024)
X-76428613-C-T		not specified	Uncertain significance (Aug 19, 2023)
X-76428672-G-A		not specified	Uncertain significance (Nov 21, 2022)
X-76428712-C-A		not specified	Uncertain significance (Jul 20, 2021)
X-76428816-G-A		not specified	Uncertain significance (Jan 23, 2024)
X-76428844-G-A		not specified	Uncertain significance (Feb 13, 2023)
X-76428901-C-T		not specified	Uncertain significance (Apr 23, 2024)
X-76428924-G-A		not specified	Uncertain significance (Jun 26, 2023)
X-76428928-C-A		not specified	Uncertain significance (May 11, 2022)
X-76428946-A-G		not specified	Likely benign (Jun 11, 2021)
X-76428951-A-G		not specified	Uncertain significance (May 08, 2024)
X-76429143-C-A		not specified	Uncertain significance (Aug 14, 2023)
X-76429192-C-T		not specified	Uncertain significance (Apr 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAGEE1	protein_coding	protein_coding	ENST00000361470	1	3699

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.970	0.0295	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.44	311	391	0.795	0.0000295	6146
Missense in Polyphen		57	132.51	0.43015		2216
Synonymous	-1.87	199	168	1.18	0.0000129	2107
Loss of Function	3.39	1	15.3	0.0654	0.00000119	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. {ECO:0000269|PubMed:20864041}.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.190
• rvis_EVS: 0.87
• rvis_percentile_EVS: 88.8

Haploinsufficiency Scores

• pHI: 0.155
• hipred: N
• hipred_score: 0.348
• ghis: 0.557

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Magee1

Gene ontology

• Biological process: biological_process
• Cellular component: nucleus;plasma membrane;dendrite;postsynaptic membrane;perinuclear region of cytoplasm
• Molecular function: protein binding