MAGIX

MAGI family member, X-linked, the group of PDZ domain containing

Basic information

Region (hg38): X:49162564-49168774

Links

ENSG00000269313 ∙ NCBI:79917 ∙ ∙ HGNC:30006 ∙ Uniprot:Q9H6Y5 ∙ 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 MAGIX gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGIX 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						0
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	0

Variants in MAGIX

This is a list of pathogenic ClinVar variants found in the MAGIX 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-49163783-G-A		not specified	Uncertain significance (May 11, 2022)
X-49163798-C-G		not specified	Likely benign (Feb 06, 2024)
X-49163816-C-A		not specified	Uncertain significance (Jan 02, 2025)
X-49163818-C-G		not specified	Uncertain significance (Dec 05, 2024)
X-49163834-G-T		not specified	Uncertain significance (Jul 05, 2023)
X-49163882-C-A		not specified	Uncertain significance (Feb 28, 2023)
X-49163900-G-A		not specified	Uncertain significance (Apr 25, 2023)
X-49163928-G-C		not specified	Uncertain significance (Aug 11, 2022)
X-49164743-C-T		not specified	Uncertain significance (Oct 25, 2024)
X-49164764-C-T		not specified	Uncertain significance (Mar 16, 2022)
X-49164867-G-A		not specified	Uncertain significance (Dec 16, 2024)
X-49164888-C-T		not specified	Uncertain significance (Jul 06, 2021)
X-49165000-A-C		not specified	Uncertain significance (Dec 28, 2022)
X-49165001-G-T		not specified	Uncertain significance (Jan 27, 2025)
X-49165002-G-A		not specified	Uncertain significance (Feb 06, 2024)
X-49165074-G-A		not specified	Uncertain significance (Mar 14, 2023)
X-49165298-C-T		not specified	Uncertain significance (Aug 02, 2023)
X-49165299-G-A		not specified	Uncertain significance (Feb 05, 2024)
X-49165299-G-C		not specified	Uncertain significance (Oct 20, 2024)
X-49165328-C-G		not specified	Uncertain significance (Sep 01, 2021)
X-49165332-G-C		not specified	Uncertain significance (Feb 04, 2025)
X-49166191-G-C		not specified	Uncertain significance (Feb 19, 2025)
X-49166248-C-G		not specified	Uncertain significance (Feb 02, 2024)
X-49166269-C-T		not specified	Uncertain significance (Oct 26, 2022)
X-49166311-C-T		not specified	Uncertain significance (Feb 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0326
• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.108

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Magix