MXRA8

matrix remodeling associated 8, the group of V-set domain containing

Basic information

Region (hg38): 1:1352689-1361777

Links

ENSG00000162576 ∙ NCBI:54587 ∙ OMIM:617293 ∙ HGNC:7542 ∙ Uniprot:Q9BRK3 ∙ 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 MXRA8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MXRA8 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				6	1	7
missense		1	29	3	2	35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	1	29	9	3

Variants in MXRA8

This is a list of pathogenic ClinVar variants found in the MXRA8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-1353615-T-C		not specified	Uncertain significance (Apr 26, 2023)
1-1353626-A-G		not specified	Uncertain significance (Jan 29, 2024)
1-1353860-C-A		not specified	Uncertain significance (May 26, 2024)
1-1353882-G-T		not specified	Uncertain significance (Jan 09, 2024)
1-1353903-C-T		MXRA8-related disorder	Likely benign (Mar 27, 2019)
1-1353913-A-T		Abnormal brain morphology	Likely pathogenic (-)
1-1353928-T-A		not specified	Uncertain significance (Apr 09, 2024)
1-1354033-G-T		not specified	Uncertain significance (Oct 30, 2023)
1-1354035-T-C		not specified	Uncertain significance (Apr 04, 2024)
1-1354066-C-T		MXRA8-related disorder	Likely benign (Jan 06, 2023)
1-1354089-G-A		not specified	Uncertain significance (Nov 17, 2022)
1-1354194-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-1354438-G-T		not specified	Uncertain significance (Apr 08, 2023)
1-1354457-G-C		not specified	Uncertain significance (Apr 23, 2024)
1-1354483-C-A		MXRA8-related disorder	Benign (Dec 18, 2019)
1-1354485-T-C		not specified	Likely benign (May 10, 2023)
1-1354494-C-A		not specified	Uncertain significance (Oct 13, 2023)
1-1354504-T-A		not specified	Uncertain significance (Apr 04, 2024)
1-1354514-G-A		MXRA8-related disorder	Likely benign (Jun 24, 2019)
1-1354686-G-C		MXRA8-related disorder	Likely benign (Mar 01, 2022)
1-1354691-G-C		not specified	Uncertain significance (Aug 16, 2022)
1-1354712-C-G		not specified	Uncertain significance (Oct 26, 2022)
1-1354725-G-T		MXRA8-related disorder	Likely benign (Dec 27, 2021)
1-1354791-G-T		MXRA8-related disorder	Likely benign (Mar 20, 2019)
1-1354921-A-G		not specified	Likely benign (Sep 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MXRA8	protein_coding	protein_coding	ENST00000309212	10	9089

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.67e-7	0.654	125387	0	19	125406	0.0000758

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	208	255	0.815	0.0000167	2748
Missense in Polyphen		73	113.37	0.6439		1264
Synonymous	-1.51	143	122	1.17	0.00000895	928
Loss of Function	1.15	13	18.3	0.711	8.41e-7	221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000121
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000590	0.0000544
Finnish	0.0000972	0.0000924
European (Non-Finnish)	0.0000869	0.0000795
Middle Eastern	0.0000590	0.0000544
South Asian	0.000133	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the maturation and maintenance of blood-brain barrier. {ECO:0000250}.
• Pathway: Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Haploinsufficiency Scores

• pHI: 0.142
• hipred: Y
• hipred_score: 0.525
• ghis: 0.633

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mxra8
• Phenotype: normal phenotype

Gene ontology

• Biological process: viral process;post-translational protein modification;cellular protein metabolic process;establishment of glial blood-brain barrier
• Cellular component: endoplasmic reticulum lumen;cell surface;integral component of membrane;extracellular exosome
• Molecular function: molecular_function