ENTREP1

endosomal transmembrane epsin interactor 1

Basic information

Region (hg38): 9:69324567-69392558

Previous symbols: [ "C9orf61", "FAM189A2" ]

Links

ENSG00000135063 ∙ NCBI:9413 ∙ OMIM:607710 ∙ HGNC:24820 ∙ Uniprot:Q15884 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ENTREP1 gene.

• not_specified (83 variants)
• not_provided (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENTREP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001347995.2. 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				6	1	7
missense			68	8	2	78
nonsense				1		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	15	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENTREP1	protein_coding	protein_coding	ENST00000257515	10	67884

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.01e-9	0.511	125605	0	143	125748	0.000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.620	237	265	0.893	0.0000151	2892
Missense in Polyphen		86	96.858	0.8879		1112
Synonymous	1.45	88	107	0.821	0.00000647	950
Loss of Function	1.15	17	22.9	0.741	0.00000139	245

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00355	0.00350
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00147	0.00147
Finnish	0.000324	0.000323
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.00147	0.00147
South Asian	0.000294	0.000294
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0908

Intolerance Scores

• loftool: 0.941
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.34

Haploinsufficiency Scores

• pHI: 0.0931
• hipred: N
• hipred_score: 0.361
• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam189a2

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;integral component of membrane
• Molecular function: molecular_function