ETV7

Chr 6

ETS variant transcription factor 7

Also known as: TEL-2, TEL2, TELB

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]

ResearchGenerating clinical summary…
2
Active trials
11
Pubs (1 yr)
P/LP submissions
P/LP missense
1.53
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.000
Z-score -0.22
OE 1.05 (0.741.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.21Z-score
OE missense 0.96 (0.851.08)
190 obs / 198.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.05 (0.741.53)
00.351.4
Missense OE?0.96 (0.851.08)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 20 / 19.0Missense obs/exp: 190 / 198.4Syn Z: -0.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ETV7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.