RAET1L

Chr 6

retinoic acid early transcript 1L

Also known as: ULBP6

RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.86
LOEUF
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.86LOEUF
pLI 0.000
Z-score -0.88
OE 1.30 (0.841.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.99Z-score
OE missense 1.25 (1.101.44)
151 obs / 120.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.30 (0.841.86)
00.351.4
Missense OE?1.25 (1.101.44)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 13 / 10.0Missense obs/exp: 151 / 120.4Syn Z: 0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RAET1L · 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.

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