ETV6

Chr 12

ETS variant transcription factor 6

Also known as: TEL, TEL/ABL, THC5

NCBI Gene: 2120ENSG00000139083UniProt: P41212

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMyeloproliferative disorder chronic with eosinophilia
UniProtLeukemia, acute myelogenous
UniProtThrombocytopenia 5

Clinical highlights

Gene-disease validity (ClinGen)
thrombocytopenia 5 · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
3
Active trials
277
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.32
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.32LOEUF
pLI 0.974
Z-score 4.02
OE 0.12 (0.06–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.78Z-score
OE missense 0.70 (0.62–0.79)
196 obs / 279.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.12 (0.06–0.32)
0≤0.351.4
Missense OE?0.70 (0.62–0.79)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 3 / 24.4Missense obs/exp: 196 / 279.9Syn Z: -1.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ETV6 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients