ICE2

Chr 15

interactor of little elongation complex ELL subunit 2

Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.84
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?
0.84LOEUF
pLI 0.000
Z-score 2.44
OE 0.61 (0.450.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.91Z-score
OE missense 1.11 (1.041.20)
554 obs / 497.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.61 (0.450.84)
00.351.4
Missense OE?1.11 (1.041.20)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 28 / 45.8Missense obs/exp: 554 / 497.2Syn Z: -0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ICE2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →