EPSTI1

epithelial stromal interaction 1

Basic information

Region (hg38): 13:42886388-42992271

Links

ENSG00000133106 ∙ NCBI:94240 ∙ OMIM:607441 ∙ HGNC:16465 ∙ Uniprot:Q96J88 ∙ 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 EPSTI1 gene.

• not_specified (48 variants)
• not_provided (2 variants)
• Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPSTI1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033255.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			42	1	1	44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EPSTI1	protein_coding	protein_coding	ENST00000313640	13	105884

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.31e-25	0.0000185	125237	2	509	125748	0.00203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.425	231	214	1.08	0.0000103	2687
Missense in Polyphen		50	53.363	0.93698		755
Synonymous	0.130	79	80.5	0.982	0.00000399	746
Loss of Function	-1.38	33	25.5	1.29	0.00000114	305

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00121	0.00121
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.000766	0.000761
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00105	0.00102
Middle Eastern	0.000766	0.000761
South Asian	0.0115	0.0108
Other	0.00165	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in M1 macrophage polarization and is required for the proper regulation of gene expression during M1 versus M2 macrophage differentiation (By similarity). Might play a role in RELA/p65 and STAT1 phosphorylation and nuclear localization upon activation of macrophages (By similarity). {ECO:0000250|UniProtKB:Q8VDI1}.

Recessive Scores

• pRec: 0.0744

Intolerance Scores

• loftool: 0.321
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.43

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.123
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0209

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Epsti1