MAGEB6

MAGE family member B6, the group of MAGE family

Basic information

Region (hg38): X:26192440-26195646

Links

ENSG00000176746 ∙ NCBI:158809 ∙ OMIM:300467 ∙ HGNC:23796 ∙ Uniprot:Q8N7X4 ∙ 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 MAGEB6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGEB6 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				5		5
missense			15	5		20
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	10	0

Variants in MAGEB6

This is a list of pathogenic ClinVar variants found in the MAGEB6 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-26193902-A-G		not specified	Uncertain significance (Apr 04, 2024)
X-26193916-G-A		not specified	Uncertain significance (May 06, 2022)
X-26193948-G-A			Likely benign (Apr 01, 2023)
X-26193958-T-C		not specified	Uncertain significance (Feb 15, 2023)
X-26194003-C-T		not specified	Uncertain significance (Jan 22, 2024)
X-26194030-C-A		not specified	Uncertain significance (Apr 26, 2023)
X-26194089-A-G			Likely benign (Sep 01, 2022)
X-26194091-C-T		not specified	Uncertain significance (Aug 09, 2021)
X-26194150-G-A		not specified	Likely benign (Oct 18, 2021)
X-26194198-G-A		not specified	Uncertain significance (Apr 23, 2024)
X-26194235-G-A		not specified	Uncertain significance (Dec 21, 2022)
X-26194292-A-G		not specified	Uncertain significance (Oct 06, 2021)
X-26194324-G-A		not specified	Uncertain significance (Aug 02, 2021)
X-26194411-C-T		not specified	Uncertain significance (Oct 12, 2022)
X-26194438-A-G		not specified	Uncertain significance (Apr 06, 2024)
X-26194439-A-C		not specified	Uncertain significance (Apr 06, 2024)
X-26194461-C-T			Likely benign (Apr 01, 2022)
X-26194507-A-G		not specified	Uncertain significance (Dec 15, 2022)
X-26194523-G-A		not specified	Uncertain significance (Jun 30, 2023)
X-26194621-G-A		not specified	Uncertain significance (Mar 19, 2024)
X-26194654-C-T		not specified	Uncertain significance (Jun 03, 2024)
X-26194676-G-A		not specified	Likely benign (Aug 08, 2022)
X-26194681-G-A		not specified	Uncertain significance (Apr 08, 2024)
X-26194716-G-A			Likely benign (Oct 01, 2022)
X-26194717-C-A		not specified	Uncertain significance (Aug 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAGEB6	protein_coding	protein_coding	ENST00000379034	1	3207

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	-0.507	189	170	1.11	0.0000141	2607
Missense in Polyphen		60	54.773	1.0954		939
Synonymous	-1.86	94	73.7	1.28	0.00000647	850
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

• loftool: 0.0888
• rvis_EVS: 0.58
• rvis_percentile_EVS: 82.25

Haploinsufficiency Scores

• pHI: 0.0621
• 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: 0.119

Gene Damage Prediction

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

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function;protein binding