ETV7

ETS variant transcription factor 7, the group of ETS transcription factor family

Basic information

Region (hg38): 6:36354091-36387800

Links

ENSG00000010030 ∙ NCBI:51513 ∙ OMIM:605255 ∙ HGNC:18160 ∙ Uniprot:Q9Y603 ∙ 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 ETV7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ETV7 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			23	2	1	26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	23	3	2

Variants in ETV7

This is a list of pathogenic ClinVar variants found in the ETV7 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-36366649-G-A		not specified	Uncertain significance (Jan 06, 2023)
6-36366683-T-C		not specified	Uncertain significance (Sep 15, 2021)
6-36366885-G-T		not specified	Uncertain significance (Nov 27, 2023)
6-36366941-C-T		not specified	Uncertain significance (Mar 13, 2023)
6-36366942-G-A		not specified	Uncertain significance (Dec 15, 2022)
6-36366954-C-T		not specified	Uncertain significance (Dec 31, 2023)
6-36366971-C-G		not specified	Uncertain significance (Aug 30, 2022)
6-36368975-C-T		not specified	Uncertain significance (Mar 22, 2023)
6-36369018-C-T		not specified	Uncertain significance (Jun 10, 2022)
6-36369023-C-T		not specified	Uncertain significance (May 24, 2023)
6-36369026-G-A			Benign (Jul 06, 2018)
6-36369048-C-T		not specified	Uncertain significance (Mar 28, 2024)
6-36371332-G-A		not specified	Uncertain significance (Dec 01, 2022)
6-36371348-T-C		not specified	Uncertain significance (Sep 14, 2022)
6-36371364-C-T			Benign (Jul 06, 2018)
6-36371377-C-A		not specified	Uncertain significance (Jun 10, 2024)
6-36371380-A-G		not specified	Uncertain significance (Nov 20, 2023)
6-36371389-G-C		not specified	Uncertain significance (Oct 12, 2021)
6-36371473-A-G		not specified	Uncertain significance (Mar 19, 2024)
6-36371539-A-G		not specified	Uncertain significance (Nov 13, 2023)
6-36373485-G-A		not specified	Likely benign (Feb 14, 2024)
6-36373536-C-T		not specified	Uncertain significance (Aug 15, 2023)
6-36375892-G-A		not specified	Uncertain significance (Aug 10, 2021)
6-36375922-C-T		not specified	Uncertain significance (Dec 19, 2023)
6-36375950-C-T		not specified	Likely benign (Aug 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ETV7	protein_coding	protein_coding	ENST00000340181	8	33746

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.96e-14	0.0123	125671	0	77	125748	0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.211	190	198	0.958	0.0000122	2192
Missense in Polyphen		71	80.298	0.88421		793
Synonymous	-0.793	90	80.9	1.11	0.00000528	660
Loss of Function	-0.217	20	19.0	1.05	0.00000122	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00109	0.00109
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.000554	0.000554
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.000381	0.000381
South Asian	0.000405	0.000392
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'- CCGGAAGT-3'. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity.
• Pathway: Transcriptional misregulation in cancer - Homo sapiens (human) (Consensus)

Intolerance Scores

• loftool: 0.802
• rvis_EVS: 1.24
• rvis_percentile_EVS: 93.42

Haploinsufficiency Scores

• pHI: 0.709
• hipred: N
• hipred_score: 0.441
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.984

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: etv7
• Affected structure: erythrocyte development
• Phenotype tag: abnormal
• Phenotype quality: process quality

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;animal organ morphogenesis;cell differentiation
• Cellular component: nucleus;nucleoplasm
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;protein binding