RPL36A-HNRNPH2

Chr X

RPL36A-HNRNPH2 readthrough

This locus represents naturally occurring read-through transcription between the neighboring ribosomal protein L36a and heterogeneous nuclear ribonucleoprotein H2 (H') genes on chromosome X. The read-through transcript produces a protein with similarity to the protein encoded by the upstream locus, ribosomal protein L36a. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2011]

ResearchGenerating clinical summary…
LOEUF 1.01
Clinical SummaryRPL36A-HNRNPH2
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.
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?
1.01LOEUF
pLI 0.364
Z-score 1.57
OE 0.21 (0.071.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.95Z-score
OE missense 0.61 (0.450.83)
28 obs / 46.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.21 (0.071.01)
00.351.4
Missense OE?0.61 (0.450.83)
00.61.4
Synonymous OE?1.18
01.21.6
LoF obs/exp: 1 / 4.7Missense obs/exp: 28 / 46.2Syn Z: -0.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RPL36A-HNRNPH2 · 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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