MAGEB1

MAGE family member B1, the group of MAGE family

Basic information

Region (hg38): X:30243715-30252040

Links

ENSG00000214107 ∙ NCBI:4112 ∙ OMIM:300097 ∙ HGNC:6808 ∙ Uniprot:P43366 ∙ 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 MAGEB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGEB1 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				3		3
missense			18		1	19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	3	1

Variants in MAGEB1

This is a list of pathogenic ClinVar variants found in the MAGEB1 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-30250501-G-A		not specified	Uncertain significance (Jul 12, 2023)
X-30250528-G-A		not specified	Uncertain significance (Jan 04, 2022)
X-30250539-C-T		not specified	Uncertain significance (May 24, 2024)
X-30250540-G-A		not specified	Uncertain significance (Dec 14, 2023)
X-30250570-A-G		not specified	Uncertain significance (Jan 04, 2024)
X-30250580-C-T			Likely benign (Mar 01, 2022)
X-30250613-C-G			Likely benign (Sep 14, 2018)
X-30250620-C-T		not specified	Uncertain significance (Feb 28, 2023)
X-30250756-A-T		not specified	Uncertain significance (Jun 26, 2023)
X-30250855-G-C		not specified	Uncertain significance (Sep 06, 2022)
X-30250894-T-C		not specified	Uncertain significance (Apr 06, 2023)
X-30250945-A-G		not specified	Uncertain significance (Oct 03, 2023)
X-30250960-G-A		not specified	Uncertain significance (Jun 16, 2024)
X-30250960-G-T		not specified	Uncertain significance (Aug 09, 2021)
X-30251025-G-A			Benign (Jun 11, 2018)
X-30251181-T-C		not specified	Uncertain significance (Jun 18, 2024)
X-30251209-G-C		not specified	Uncertain significance (Apr 08, 2024)
X-30251260-A-C		not specified	Uncertain significance (Mar 25, 2024)
X-30251271-G-A		not specified	Uncertain significance (May 26, 2024)
X-30251277-A-G		not specified	Uncertain significance (Nov 03, 2022)
X-30251296-A-G		not specified	Uncertain significance (May 18, 2023)
X-30251349-C-G		not specified	Uncertain significance (Oct 13, 2023)
X-30251360-G-T		not specified	Uncertain significance (Mar 24, 2023)
X-30251361-G-T		not specified	Uncertain significance (Mar 24, 2023)
X-30251490-A-G		not specified	Uncertain significance (May 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAGEB1	protein_coding	protein_coding	ENST00000378981	1	8309

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	0.140	140	145	0.967	0.0000119	2268
Missense in Polyphen		31	34.724	0.89276		627
Synonymous	-0.659	60	53.9	1.11	0.00000425	701
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

Recessive Scores

• pRec: 0.0849

Intolerance Scores

• loftool: 0.474
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.21

Haploinsufficiency Scores

• pHI: 0.0462
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mageb3