EPM2AIP1

EPM2A interacting protein 1

Basic information

Region (hg38): 3:36985043-36993131

Links

ENSG00000178567 ∙ NCBI:9852 ∙ OMIM:607911 ∙ HGNC:19735 ∙ Uniprot:Q7L775 ∙ 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 EPM2AIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPM2AIP1 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					2	2
missense			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2	1	3
Total	0	0	26	3	3

Variants in EPM2AIP1

This is a list of pathogenic ClinVar variants found in the EPM2AIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-36988684-C-A		Lynch syndrome	Benign (Sep 05, 2013)
3-36991325-G-A		not specified	Uncertain significance (May 06, 2022)
3-36991381-C-T		not specified	Uncertain significance (Jul 17, 2023)
3-36991463-T-C		not specified	Uncertain significance (Feb 14, 2024)
3-36991586-A-G		not specified	Uncertain significance (Aug 30, 2022)
3-36991664-C-G		not specified	Uncertain significance (May 31, 2023)
3-36991850-C-T		not specified	Uncertain significance (Jun 17, 2024)
3-36991861-G-A		not specified	Uncertain significance (Sep 20, 2023)
3-36991901-C-T		not specified	Uncertain significance (Apr 18, 2024)
3-36991984-A-G		not specified	Uncertain significance (Dec 20, 2023)
3-36992110-G-A		not specified	Uncertain significance (Jan 02, 2024)
3-36992176-A-G		not specified	Uncertain significance (Sep 16, 2021)
3-36992530-G-A		not specified	Uncertain significance (Aug 10, 2021)
3-36992558-C-T		not specified	Uncertain significance (Aug 17, 2022)
3-36992565-G-C		not specified	Uncertain significance (May 09, 2023)
3-36992565-G-T		not specified	Uncertain significance (Oct 17, 2023)
3-36992585-G-A		not specified	Uncertain significance (Nov 09, 2021)
3-36992591-T-G		not specified	Uncertain significance (May 09, 2023)
3-36992611-C-T		not specified	Likely benign (Aug 04, 2023)
3-36992645-A-C		not specified	Uncertain significance (May 13, 2024)
3-36992660-G-C		not specified	Uncertain significance (Oct 20, 2023)
3-36992693-G-A			Benign (Dec 31, 2019)
3-36992716-A-G		not specified	Uncertain significance (Jul 19, 2023)
3-36992738-C-T		not specified	Uncertain significance (Sep 07, 2022)
3-36992771-C-T		not specified	Uncertain significance (Jul 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EPM2AIP1	protein_coding	protein_coding	ENST00000322716	1	7439

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.600	0.400	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.44	251	324	0.774	0.0000153	3984
Missense in Polyphen		68	108.06	0.62929		1408
Synonymous	-1.60	149	126	1.18	0.00000616	1204
Loss of Function	3.35	4	20.3	0.197	0.00000118	242

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.526
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.51

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.655
• ghis: 0.502

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.914

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Epm2aip1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: response to insulin;positive regulation of glycogen biosynthetic process;positive regulation of glycogen (starch) synthase activity
• Cellular component: nucleus;endoplasmic reticulum
• Molecular function: protein binding;identical protein binding