RBAK-RBAKDN

Chr 7

RBAK-RBAKDN readthrough

Also known as: RBAK-LOC389458

NCBI Gene: 100533952ENSG00000272968

The read-through transcript between RBAK and LOC389458 encodes a protein with sequence similarity to RBAK, a RB-associated KRAB zinc finger protein, but with a distinct C-terminal region due to frameshifts. Currently, no definitive human diseases have been associated with mutations in this read-through transcript. The gene shows moderate constraint against loss-of-function variants based on population data.

ResearchSummary from RefSeq
LOEUF 0.80
Clinical Summary— RBAK-RBAKDN
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.17) despite low pLI — interpret in context.
📋
ClinVar Variants
39 unique Pathogenic / Likely Pathogenic· 102 VUS of 152 total submissions
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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 OE0.17 (0.06–0.80)
0≤0.351.4
Missense OE0.86 (0.69–1.10)
0≤0.61.4
Synonymous OE1.30
0≤1.21.6
LoF obs/exp: 1 / 5.9Missense obs/exp: 49 / 56.7Syn Z: -1.11

ClinVar Variant Classifications

152 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic3
VUS102
Likely Benign10
36
Pathogenic
3
Likely Pathogenic
102
VUS
10
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
36
0
36
Likely Pathogenic
0
0
3
0
3
VUS
0
91
11
0
102
Likely Benign
0
6
3
1
10
Benign
0
0
0
0
0
Total097531151

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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