RBAK-RBAKDN

Chr 7

RBAK-RBAKDN readthrough

Also known as: RBAK-LOC389458

NCBI Gene: 100533952ENSG00000272968

This locus represents naturally occurring read-through transcription between the neighboring RBAK (RB-associated KRAB zinc finger) and LOC389458 (hypothetical LOC389458) genes on chromosome 7. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…
LOEUF 0.80
Clinical Summary— RBAK-RBAKDN
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.17) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.489
Z-score 1.88
OE 0.17 (0.06–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.36Z-score
OE missense 0.86 (0.69–1.10)
49 obs / 56.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.17 (0.06–0.80)
0≤0.351.4
Missense OE?0.86 (0.69–1.10)
0≤0.61.4
Synonymous OE?1.30
0≤1.21.6
LoF obs/exp: 1 / 5.9Missense obs/exp: 49 / 56.7Syn Z: -1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RBAK-RBAKDN · 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

ClinicalTrials.gov

No active trials found for this gene.

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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