ENTREP3

endosomal transmembrane epsin interactor 3

Basic information

Region (hg38): 1:155247205-155255483

Previous symbols: [ "C1orf2", "FAM189B" ]

Links

ENSG00000160767 ∙ NCBI:10712 ∙ OMIM:619447 ∙ HGNC:1233 ∙ Uniprot:P81408 ∙ 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 ENTREP3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENTREP3 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			60			60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	60	0	0

Variants in ENTREP3

This is a list of pathogenic ClinVar variants found in the ENTREP3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-155247808-C-G		not specified	Uncertain significance (Apr 04, 2023)
1-155247808-C-T		not specified	Uncertain significance (Feb 13, 2025)
1-155247823-T-C		not specified	Uncertain significance (Feb 12, 2025)
1-155247825-T-C		not specified	Uncertain significance (Feb 03, 2025)
1-155247831-C-T		not specified	Uncertain significance (Oct 01, 2024)
1-155247832-G-A		not specified	Uncertain significance (Aug 02, 2023)
1-155247840-C-T		not specified	Uncertain significance (Jan 07, 2025)
1-155247853-G-A		not specified	Uncertain significance (Sep 14, 2022)
1-155247898-C-T		not specified	Uncertain significance (Nov 07, 2022)
1-155247900-C-A		not specified	Uncertain significance (Jun 22, 2021)
1-155248070-C-T		not specified	Uncertain significance (May 15, 2024)
1-155248114-C-T		not specified	Uncertain significance (Aug 17, 2022)
1-155248154-C-T		not specified	Uncertain significance (Jan 23, 2024)
1-155248166-G-A		not specified	Uncertain significance (Oct 20, 2024)
1-155248219-C-T		not specified	Uncertain significance (Feb 26, 2025)
1-155248222-C-T		not specified	Uncertain significance (Nov 09, 2024)
1-155248223-G-A		not specified	Uncertain significance (Aug 21, 2024)
1-155248262-G-T		not specified	Uncertain significance (Jan 08, 2024)
1-155248303-C-A		not specified	Uncertain significance (Dec 09, 2024)
1-155250293-G-A		not specified	Uncertain significance (Dec 10, 2024)
1-155250357-G-A		not specified	Uncertain significance (Mar 16, 2022)
1-155250359-C-T		not specified	Uncertain significance (Aug 28, 2024)
1-155250371-G-A		not specified	Uncertain significance (May 09, 2023)
1-155250395-C-A		not specified	Uncertain significance (Dec 15, 2023)
1-155250396-T-C		not specified	Uncertain significance (Dec 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENTREP3	protein_coding	protein_coding	ENST00000361361	12	8279

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000806	0.996	125466	1	281	125748	0.00112

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.683	339	376	0.901	0.0000224	4128
Missense in Polyphen		162	196.35	0.82505		2230
Synonymous	0.655	148	159	0.934	0.00000907	1528
Loss of Function	2.56	13	27.5	0.472	0.00000165	283

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00169	0.00160
Ashkenazi Jewish	0.00768	0.00747
East Asian	0.000113	0.000109
Finnish	0.000771	0.000647
European (Non-Finnish)	0.00132	0.00122
Middle Eastern	0.000113	0.000109
South Asian	0.0000678	0.0000653
Other	0.00257	0.00245

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.863
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.49

Haploinsufficiency Scores

• pHI: 0.183
• hipred: N
• hipred_score: 0.385
• ghis: 0.556

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam189b

Gene ontology

• Biological process: biological_process
• Cellular component: integral component of membrane
• Molecular function: protein binding;WW domain binding