TRANK1

Chr 3

tetratricopeptide repeat and ankyrin repeat containing 1

Also known as: LBA1

The protein functions as a transcriptional regulator that controls gene expression in neural development and synaptic function. Mutations cause neurodevelopmental disorders with intellectual disability, autism spectrum disorder, and psychiatric features including bipolar disorder and schizophrenia, inherited in an autosomal dominant pattern. The gene shows moderate constraint against loss-of-function variants, and affected individuals typically present with early-onset developmental delays and behavioral abnormalities.

LOEUF 0.67
Clinical SummaryTRANK1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.67LOEUF
pLI 0.000
Z-score 4.48
OE 0.54 (0.430.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
2.08Z-score
OE missense 0.85 (0.810.89)
1329 obs / 1560.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.54 (0.430.67)
00.351.4
Missense OE0.85 (0.810.89)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 59 / 109.7Missense obs/exp: 1329 / 1560.7Syn Z: -0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRANK1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC