EMX2OS

EMX2 opposite strand/antisense RNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 10:117473213-117545068

Links

ENSG00000229847 ∙ NCBI:196047 ∙ OMIM:607637 ∙ HGNC:18511 ∙ ∙ ∙ 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 EMX2OS gene.

• not provided (7 variants)
• Inborn genetic diseases (4 variants)
• not specified (2 variants)
• Schizencephaly (2 variants)
• Seizure (1 variants)
• Seizure;Intellectual disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EMX2OS 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			8	6		14
Total	0	0	8	6	0

Variants in EMX2OS

This is a list of pathogenic ClinVar variants found in the EMX2OS region.

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

Position	Type	Phenotype	Significance	ClinVar
10-117543281-C-G		Inborn genetic diseases	Uncertain significance (Jul 20, 2021)
10-117543309-G-A		EMX2-related disorder	Likely benign (Oct 19, 2022)
10-117543348-C-G			Uncertain significance (Jan 16, 2017)
10-117543368-C-T		Inborn genetic diseases	Uncertain significance (Dec 21, 2023)
10-117543372-A-T		not specified	Benign/Likely benign (Dec 31, 2019)
10-117543379-T-C		Seizure	Uncertain significance (Jul 17, 2019)
10-117543388-T-G		Inborn genetic diseases	Likely benign (Oct 12, 2021)
10-117543426-GGCC-G			Likely benign (Sep 01, 2022)
10-117543426-GGCCGCC-G		not specified • EMX2-related disorder	Benign/Likely benign (Jul 13, 2017)
10-117543426-G-GGCC		Inborn genetic diseases	Conflicting classifications of pathogenicity (Jan 31, 2022)
10-117543426-G-GGCCGCC		Seizure;Intellectual disability	Uncertain significance (Feb 01, 2017)
10-117543498-C-G		Schizencephaly	Uncertain significance (Aug 27, 2021)
10-117543505-A-G		Inborn genetic diseases	Uncertain significance (May 01, 2023)
10-117543519-A-C			Likely benign (Feb 01, 2024)
10-117543527-C-T		Schizencephaly	Uncertain significance (Mar 02, 2021)
10-117543578-C-T		Inborn genetic diseases	Uncertain significance (Jan 02, 2024)
10-117543615-G-T			Uncertain significance (May 23, 2017)
10-117543627-C-T			Likely benign (Apr 10, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.341

Mouse Genome Informatics

• Gene name: Emx2os