BTBD9

Chr 6

BTB domain containing 9

Also known as: dJ322I12.1

This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRestless legs syndrome 6
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.87
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.000
Z-score 2.14
OE 0.58 (0.400.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.93Z-score
OE missense 0.71 (0.640.79)
251 obs / 353.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.400.87)
00.351.4
Missense OE?0.71 (0.640.79)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 18 / 30.8Missense obs/exp: 251 / 353.2Syn Z: -0.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BTBD9 · 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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