TAL1

Chr 1

TAL bHLH transcription factor 1, erythroid differentiation factor

Also known as: SCL, TCL5, bHLHa17, tal-1

TAL1 encodes a transcription factor that regulates hemopoietic differentiation and serves as a positive regulator of erythroid cell development. Somatic mutations in TAL1 are associated with T-cell acute lymphoblastic leukemia, which typically presents in childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.704), consistent with its role in normal hematopoiesis.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismLOEUF 0.701 OMIM phenotype
Clinical SummaryTAL1
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.57) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.70LOEUF
pLI 0.566
Z-score 2.05
OE 0.15 (0.050.70)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
0.98Z-score
OE missense 0.78 (0.670.91)
122 obs / 156.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.15 (0.050.70)
00.351.4
Missense OE0.78 (0.670.91)
00.61.4
Synonymous OE0.81
01.21.6
LoF obs/exp: 1 / 6.7Missense obs/exp: 122 / 156.4Syn Z: 1.25
DN
0.3992th %ile
GOF
0.3392th %ile
LOF
0.76top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TAL1 · 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

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗