MAGEA9B

protein-coding

MAGE family member A9B, the group of MAGE family

Gene summary

MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009]

MANE transcript

NM_001080790.1

Inheritance

—

ClinVar variants

U:3B:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chrX:149,581,653-149,587,459

External References & Databases

Ensembl (ENSG00000267978)

Transcript & Mutation Effects

hg38 • Region Span ~5.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MAGEA9B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080790.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			3 clinvar	1 clinvar		4
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	3	1	0	4

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080790.1	RefSeq	NP_001074259.1	1	MANE Select
ENST00000595065.6	Ensembl	ENSP00000471017.1	1	MANE Select
ENST00000593349.5	Ensembl	ENSP00000472733.1	1	Standard
ENST00000594744.1	Ensembl	ENSP00000470594.1	1	Standard

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression.;

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0464

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low