ETV7

protein-coding

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

Gene summary

The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]

MANE transcript

NM_016135.4

Inheritance

—

ClinVar variants

U:61B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.05

Max pathogenic AF

—

Genomic locus

chr6:36,354,091-36,387,800

External References & Databases

Ensembl (ENSG00000010030)

Transcript & Mutation Effects

hg38 • Region Span ~33.7 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ETV7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 59

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016135.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	6 clinvar	1 clinvar	11
missense			54 clinvar	4 clinvar	1 clinvar	59
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	61	10	2	73

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016135.4	RefSeq	NP_057219.1	8	MANE Select
ENST00000340181.9	Ensembl	ENSP00000341843.4	8	MANE Select
NM_001207035.2	RefSeq	NP_001193964.1	8	Standard
NM_001207036.2	RefSeq	NP_001193965.1	7	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
etv7	Danio rerio	Structure: erythrocyte development Quality: process quality abnormal

Gene / Model

Organism

Observed Phenotype

etv7

Danio rerio

Structure: erythrocyte development

Quality: process quality

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Transcriptional misregulation in cancer - Homo sapiens (human)

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

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

Cellular Component

nucleus
nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340181
Coding exons: 8
Length: 33746
Individuals with no LoFs: 125671
Homozygous LoFs: 0
Heterozygous LoFs: 77
Defined: 125748
p: 0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.211	190	198	0.958	0.0000122	2192
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00080	0.00080	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00038	0.00038	rare
Finnish	0.00055	0.00055	rare
European (Non-Finnish)	0.00017	0.00017	rare
South Asian	0.00041	0.00039	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

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.;

Intolerance Scores

LoFtool: 0.802
RVIS EVS: 1.24
RVIS percentile EVS: 93.42

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.984

Gene Damage Prediction

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