MXRA7

matrix remodeling associated 7

Basic information

Region (hg38): 17:76672551-76711004

Links

ENSG00000182534 ∙ NCBI:439921 ∙ ∙ HGNC:7541 ∙ Uniprot:P84157 ∙ 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 MXRA7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MXRA7 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	2	0

Variants in MXRA7

This is a list of pathogenic ClinVar variants found in the MXRA7 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-76677604-C-T		not specified	Uncertain significance (Jun 01, 2023)
17-76677653-T-C		not specified	Uncertain significance (Jul 19, 2023)
17-76677669-C-A		not specified	Uncertain significance (Mar 15, 2024)
17-76677685-A-G		not specified	Uncertain significance (Mar 27, 2023)
17-76677701-C-T		not specified	Uncertain significance (Jun 16, 2022)
17-76685082-C-T		not specified	Uncertain significance (Apr 07, 2022)
17-76685108-T-A		not specified	Uncertain significance (Jun 21, 2023)
17-76685162-T-C		not specified	Uncertain significance (Oct 29, 2021)
17-76688114-G-T		not specified	Uncertain significance (Feb 02, 2022)
17-76688117-C-G		not specified	Likely benign (Oct 02, 2023)
17-76688357-G-A			Likely benign (Mar 01, 2023)
17-76710624-T-A		not specified	Uncertain significance (Feb 28, 2023)
17-76710628-C-T		not specified	Uncertain significance (Feb 12, 2024)
17-76710643-G-T		not specified	Uncertain significance (Jul 15, 2021)
17-76710715-C-A		not specified	Uncertain significance (Mar 29, 2022)
17-76710811-G-A		not specified	Uncertain significance (Nov 07, 2023)
17-76710834-G-A		not specified	Uncertain significance (Apr 23, 2024)
17-76710868-C-T		not specified	Uncertain significance (Apr 06, 2024)
17-76710936-G-A		not specified	Uncertain significance (Mar 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MXRA7	protein_coding	protein_coding	ENST00000355797	4	38466

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000794	0.558	125713	0	30	125743	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0295	61	60.4	1.01	0.00000354	1287
Missense in Polyphen		18	20.989	0.85761		225
Synonymous	0.0217	27	27.1	0.995	0.00000203	435
Loss of Function	0.403	5	6.07	0.823	2.56e-7	103

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000206	0.000206
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0808
• hipred: N
• hipred_score: 0.123
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0389

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mxra7
• Phenotype: growth/size/body region phenotype; hematopoietic system phenotype; respiratory system phenotype; immune system phenotype; skeleton phenotype; limbs/digits/tail phenotype

Gene ontology

• Cellular component: integral component of membrane;collagen-containing extracellular matrix