TAL1

Chr 1

TAL bHLH transcription factor 1, erythroid differentiation factor

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

NCBI Gene: 6886 ENSG00000162367 UniProt: P17542 OMIM: 187040

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables several functions, including E-box binding activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and histone deacetylase binding activity. Involved in several processes, including myeloid cell differentiation; positive regulation of cellular component organization; and positive regulation of erythrocyte differentiation. Located in chromatin and nucleoplasm. Part of transcription regulator complex. Implicated in acute lymphoblastic leukemia. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.701 OMIM phenotype

Clinical Summary— TAL1

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.57) — some intolerance to loss-of-function variants.

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ClinVar Variants

52 VUS of 64 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.70LOEUF

pLI 0.566

Z-score 2.05

OE 0.15 (0.05–0.70)

Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?

0.98Z-score

OE missense 0.78 (0.67–0.91)

122 obs / 156.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.15 (0.05–0.70)

0≤0.351.4

Missense OE?0.78 (0.67–0.91)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 1 / 6.7Missense obs/exp: 122 / 156.4Syn Z: 1.25

This gene — mechanism propensity

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

64 submitted variants in ClinVar

ClinVar

Classification Summary

VUS52

Likely Benign7

Benign5

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	52	0	0	52
Likely Benign	2	0	5	7
Benign	0	3	2	5
Total	54	3	7	64

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

View in ClinVar →

8 pathogenic / likely-pathogenic (of 9) ClinVar copy-number / structural variants overlap TAL1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →