MAGEB10

MAGE family member B10, the group of MAGE family

Basic information

Region (hg38): X:27807990-27823014

Links

ENSG00000177689 ∙ NCBI:139422 ∙ OMIM:300761 ∙ HGNC:25377 ∙ Uniprot:Q96LZ2 ∙ 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 MAGEB10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGEB10 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in MAGEB10

This is a list of pathogenic ClinVar variants found in the MAGEB10 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-27821343-G-A		not specified	Uncertain significance (Mar 07, 2024)
X-27821412-G-A		not specified	Uncertain significance (Apr 09, 2024)
X-27821448-G-T		not specified	Uncertain significance (Jun 24, 2022)
X-27821648-A-C		not specified	Uncertain significance (Jun 05, 2023)
X-27821752-T-A		not specified	Uncertain significance (Dec 26, 2023)
X-27821967-G-A		not specified	Uncertain significance (Jan 16, 2024)
X-27822007-A-T		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAGEB10	protein_coding	protein_coding	ENST00000356790	1	15025

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.37	88	132	0.665	0.00000987	2273
Missense in Polyphen		9	39.276	0.22915		788
Synonymous	-0.0520	52	51.5	1.01	0.00000386	693
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.5
• rvis_percentile_EVS: 95.4

Haploinsufficiency Scores

• pHI: 0.0456
• hipred: N
• hipred_score: 0.158

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00621

Gene Damage Prediction

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