NELFE

Chr 6

negative elongation factor complex member E

Also known as: D6S45, NELF-E, RD, RDBP, RDP

The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

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.
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
0.56
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.007
Z-score 3.32
OE 0.32 (0.190.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.57Z-score
OE missense 0.72 (0.640.81)
177 obs / 246.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.32 (0.190.56)
00.351.4
Missense OE?0.72 (0.640.81)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 9 / 27.9Missense obs/exp: 177 / 246.3Syn Z: 1.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NELFE · 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 →