MAGEB16

MAGE family member B16, the group of MAGE family

Basic information

Region (hg38): X:35798342-35803772

Links

ENSG00000189023 ∙ NCBI:139604 ∙ OMIM:300762 ∙ HGNC:21188 ∙ Uniprot:A2A368 ∙ 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 MAGEB16 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGEB16 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				1		1
missense			21		1	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	1

Variants in MAGEB16

This is a list of pathogenic ClinVar variants found in the MAGEB16 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-35802230-C-A		not specified	Uncertain significance (Jul 20, 2022)
X-35802278-G-T		not specified	Uncertain significance (Sep 03, 2024)
X-35802321-C-T		not specified	Uncertain significance (Apr 08, 2024)
X-35802338-G-C		not specified	Uncertain significance (Aug 15, 2023)
X-35802347-A-G		not specified	Uncertain significance (Jun 28, 2022)
X-35802354-C-T		not specified	Uncertain significance (Mar 07, 2024)
X-35802419-G-A			Benign (Mar 05, 2018)
X-35802428-A-G		not specified	Uncertain significance (Oct 26, 2022)
X-35802431-T-A		not specified	Uncertain significance (Dec 21, 2024)
X-35802470-G-A		not specified	Uncertain significance (Feb 14, 2023)
X-35802500-A-G		not specified	Uncertain significance (Jan 18, 2023)
X-35802536-G-A		not specified	Uncertain significance (Mar 24, 2023)
X-35802549-C-T		not specified	Uncertain significance (Aug 17, 2022)
X-35802611-A-G		not specified	Uncertain significance (Jan 01, 2025)
X-35802851-C-G		not specified	Uncertain significance (May 25, 2022)
X-35802852-G-A		not specified	Uncertain significance (May 03, 2023)
X-35802924-T-C		not specified	Uncertain significance (Sep 27, 2024)
X-35802928-A-T			Likely benign (Oct 01, 2023)
X-35802931-G-T		not specified	Uncertain significance (Oct 12, 2024)
X-35802933-C-G		not specified	Uncertain significance (Apr 12, 2024)
X-35803018-A-T		not specified	Uncertain significance (Jun 26, 2023)
X-35803038-C-T		not specified	Uncertain significance (May 24, 2023)
X-35803040-A-G		not specified	Uncertain significance (Mar 21, 2022)
X-35803088-C-T		not specified	Uncertain significance (Aug 27, 2024)
X-35803160-G-A		not specified	Uncertain significance (Nov 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAGEB16	protein_coding	protein_coding	ENST00000399989	1	5394

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.370	0.490	123500	15	22	123537	0.000150

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.577	94	111	0.846	0.00000750	2124
Missense in Polyphen		15	28.548	0.52543		602
Synonymous	-0.149	46	44.7	1.03	0.00000313	642
Loss of Function	0.830	0	0.802	0.00	4.88e-8	25

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00274	0.00207
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00274	0.00207
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.746
• rvis_EVS: 1.37
• rvis_percentile_EVS: 94.47

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0110

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mageb16