MAGEB18

MAGE family member B18, the group of MAGE family

Basic information

Region (hg38): X:26138343-26140736

Links

ENSG00000176774 ∙ NCBI:286514 ∙ OMIM:301064 ∙ HGNC:28515 ∙ Uniprot:Q96M61 ∙ 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 MAGEB18 gene.

• not_specified (29 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGEB18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173699.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			26	3		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	26	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAGEB18	protein_coding	protein_coding	ENST00000325250	1	2393

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000569	0.278	125702	1	9	125712	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.820	102	128	0.796	0.00000965	2256
Missense in Polyphen		26	33.648	0.77271		671
Synonymous	1.16	37	47.1	0.786	0.00000352	665
Loss of Function	-0.284	6	5.29	1.13	3.83e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000189	0.000174
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000761	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000250	0.0000176
Middle Eastern	0.0000761	0.0000544
South Asian	0.000170	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. {ECO:0000269|PubMed:20864041}.

Recessive Scores

• pRec: 0.0814

Intolerance Scores

• loftool: 0.386
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.76

Haploinsufficiency Scores

• pHI: 0.0452
• 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: 0.404

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mageb18

Gene ontology

• Cellular component: cytoplasm
• Molecular function: protein binding