EHF

ETS homologous factor, the group of ETS transcription factor family

Basic information

Region (hg38): 11:34621093-34663288

Links

ENSG00000135373 ∙ NCBI:26298 ∙ OMIM:605439 ∙ HGNC:3246 ∙ Uniprot:Q9NZC4 ∙ 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 EHF gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EHF 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					1	1
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	1

Variants in EHF

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

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

Position	Type	Phenotype	Significance	ClinVar
11-34632633-T-C		not specified	Uncertain significance (Jul 27, 2024)
11-34642687-C-G		not specified	Uncertain significance (Dec 05, 2022)
11-34642692-C-T		not specified	Uncertain significance (Nov 12, 2021)
11-34646445-G-C		not specified	Uncertain significance (Apr 12, 2022)
11-34646485-G-C		not specified	Uncertain significance (May 25, 2022)
11-34646522-C-A		not specified	Uncertain significance (Oct 24, 2024)
11-34646538-A-G		not specified	Uncertain significance (Sep 30, 2021)
11-34646594-C-A		not specified	Uncertain significance (Nov 17, 2023)
11-34646624-C-T		not specified	Uncertain significance (Nov 17, 2022)
11-34646625-G-A		not specified	Uncertain significance (Nov 18, 2022)
11-34649028-G-A		not specified	Uncertain significance (Mar 20, 2023)
11-34649059-C-T			Benign (Apr 24, 2018)
11-34651570-C-A		not specified	Likely benign (Jun 07, 2024)
11-34651575-A-G		not specified	Uncertain significance (Feb 12, 2024)
11-34651577-T-A		not specified	Uncertain significance (Oct 21, 2024)
11-34651764-G-A		not specified	Uncertain significance (Dec 03, 2024)
11-34651802-G-T		not specified	Uncertain significance (Nov 28, 2024)
11-34656938-A-T		not specified	Uncertain significance (Aug 17, 2022)
11-34656941-C-A		not specified	Likely benign (Dec 28, 2022)
11-34656950-A-C		not specified	Uncertain significance (Oct 05, 2021)
11-34656955-C-A		not specified	Uncertain significance (Mar 06, 2023)
11-34658622-T-A		not specified	Uncertain significance (Jul 16, 2024)
11-34658631-G-A		not specified	Likely benign (May 20, 2024)
11-34658843-A-G		not specified	Uncertain significance (Sep 16, 2021)
11-34658906-G-A		not specified	Uncertain significance (Oct 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EHF	protein_coding	protein_coding	ENST00000531794	9	39965

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.705	0.295	125681	0	8	125689	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.04	143	183	0.783	0.00000982	2148
Missense in Polyphen		67	93.079	0.71982		1111
Synonymous	-0.00234	70	70.0	1.00	0.00000421	552
Loss of Function	3.50	4	21.5	0.186	0.00000119	228

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000442	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen- activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets- binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene. {ECO:0000269|PubMed:10527851, ECO:0000269|PubMed:10644770, ECO:0000269|PubMed:11259407, ECO:0000269|PubMed:12444029, ECO:0000269|PubMed:17027647}.

Recessive Scores

• pRec: 0.123

Intolerance Scores

• loftool: 0.477
• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

• pHI: 0.491
• hipred: Y
• hipred_score: 0.654
• ghis: 0.517

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.533

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ehf

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;multicellular organism development;cell population proliferation;cell differentiation;epithelial cell differentiation;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;epithelial cell proliferation
• Cellular component: nucleus;nucleoplasm;Golgi apparatus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity