ENTHD1

ENTH domain containing 1

Basic information

Region (hg38): 22:39743044-39893864

Links

ENSG00000176177 ∙ NCBI:150350 ∙ ∙ HGNC:26352 ∙ Uniprot:Q8IYW4 ∙ 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 ENTHD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENTHD1 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			39	8		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	8	0

Variants in ENTHD1

This is a list of pathogenic ClinVar variants found in the ENTHD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-39743699-C-A		not specified	Uncertain significance (Nov 30, 2022)
22-39743723-A-G		not specified	Uncertain significance (Mar 29, 2024)
22-39743743-C-G		not specified	Uncertain significance (Nov 25, 2024)
22-39743791-T-C		not specified	Likely benign (Mar 03, 2025)
22-39743818-A-G		not specified	Uncertain significance (Mar 19, 2024)
22-39743834-G-A		not specified	Likely benign (Feb 28, 2024)
22-39743834-G-C		not specified	Uncertain significance (Nov 27, 2024)
22-39743868-C-A		not specified	Likely benign (Mar 28, 2024)
22-39743870-T-G		not specified	Uncertain significance (Nov 10, 2024)
22-39744022-A-G		not specified	Uncertain significance (Feb 28, 2023)
22-39744037-T-C		not specified	Uncertain significance (Sep 06, 2024)
22-39744077-C-T		not specified	Likely benign (Feb 19, 2025)
22-39744109-G-A		not specified	Uncertain significance (Apr 12, 2023)
22-39744131-A-G		not specified	Uncertain significance (Dec 10, 2024)
22-39744172-G-A		not specified	Uncertain significance (Oct 04, 2024)
22-39744223-A-G		not specified	Likely benign (Jan 27, 2025)
22-39765225-C-T		not specified	Likely benign (Jan 10, 2023)
22-39765226-G-A		not specified	Likely benign (Oct 12, 2022)
22-39765231-G-T		not specified	Uncertain significance (Dec 21, 2024)
22-39765252-T-C		not specified	Uncertain significance (Oct 01, 2024)
22-39765288-G-C		not specified	Uncertain significance (Nov 09, 2023)
22-39765305-C-A		not specified	Uncertain significance (Mar 28, 2024)
22-39765375-A-C		not specified	Uncertain significance (Jan 02, 2024)
22-39765410-G-T		not specified	Uncertain significance (Aug 01, 2022)
22-39765451-T-C		not specified	Uncertain significance (Aug 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENTHD1	protein_coding	protein_coding	ENST00000325157	6	150820

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.25e-7	0.789	124509	1	1236	125746	0.00493

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.329	296	312	0.948	0.0000151	3988
Missense in Polyphen		66	79.635	0.82878		1045
Synonymous	1.32	100	118	0.846	0.00000595	1178
Loss of Function	1.37	13	19.6	0.665	9.05e-7	271

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00268	0.00268
Ashkenazi Jewish	0.000595	0.000595
East Asian	0.000779	0.000761
Finnish	0.0100	0.0100
European (Non-Finnish)	0.00754	0.00755
Middle Eastern	0.000779	0.000761
South Asian	0.00181	0.00180
Other	0.00457	0.00457

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0765

Intolerance Scores

• loftool: 0.941
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.16

Haploinsufficiency Scores

• pHI: 0.0986
• hipred: N
• hipred_score: 0.123
• ghis: 0.452

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.135

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Enthd1