MAGEA11

MAGE family member A11, the group of MAGE family

Basic information

Region (hg38): X:149688228-149717268

Previous symbols: [ "MAGE11" ]

Links

ENSG00000185247 ∙ NCBI:4110 ∙ OMIM:300344 ∙ HGNC:6798 ∙ Uniprot:P43364 ∙ 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 MAGEA11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGEA11 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				2		2
missense			12	3		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	12	5	0

Variants in MAGEA11

This is a list of pathogenic ClinVar variants found in the MAGEA11 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-149713176-G-A		not specified	Likely benign (Sep 28, 2022)
X-149713239-G-A		not specified	Uncertain significance (Aug 02, 2021)
X-149715649-A-G		not specified	Uncertain significance (Dec 27, 2023)
X-149715658-A-G		not specified	Uncertain significance (Mar 16, 2022)
X-149715748-C-T		MAGEA11-related disorder	Likely benign (Jul 12, 2019)
X-149715787-G-A		not specified	Uncertain significance (Jun 05, 2023)
X-149715791-G-A		not specified	Uncertain significance (Nov 08, 2021)
X-149715882-C-G		not specified	Uncertain significance (May 24, 2024)
X-149715898-G-T		not specified	Uncertain significance (Feb 09, 2023)
X-149715907-C-T		not specified	Uncertain significance (Dec 26, 2023)
X-149715942-C-T			Likely benign (Apr 01, 2022)
X-149716059-C-A		MAGEA11-related disorder	Likely benign (Jun 04, 2019)
X-149716067-A-G		not specified	Uncertain significance (Dec 04, 2021)
X-149716276-T-C		not specified	Uncertain significance (Mar 21, 2023)
X-149716340-C-G			Likely benign (Jan 01, 2023)
X-149716386-T-C		MAGEA11-related disorder	Likely benign (Aug 12, 2019)
X-149716401-T-A		not specified	Uncertain significance (Oct 13, 2023)
X-149716474-C-T		not specified	Uncertain significance (Aug 08, 2023)
X-149716703-C-T		not specified	Uncertain significance (Aug 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAGEA11	protein_coding	protein_coding	ENST00000355220	4	29033

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.684	0.298	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.28	110	155	0.711	0.0000108	2808
Missense in Polyphen		5	23.217	0.21536		473
Synonymous	-0.961	68	58.6	1.16	0.00000400	847
Loss of Function	1.80	0	3.77	0.00	2.39e-7	67

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: Acts as androgen receptor coregulator that increases androgen receptor activity by modulating the receptors interdomain interaction. May play a role in embryonal development and tumor transformation or aspects of tumor progression. {ECO:0000269|PubMed:15684378}.
• Pathway: AndrogenReceptor (Consensus)

Recessive Scores

• pRec: 0.0808

Intolerance Scores

• loftool: 0.125
• rvis_EVS: 0.97
• rvis_percentile_EVS: 90.27

Haploinsufficiency Scores

• pHI: 0.180
• hipred: N
• hipred_score: 0.246
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.156

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Magea4

Gene ontology

• Cellular component: nucleoplasm;cytosol;nuclear body
• Molecular function: protein binding