TAL1

TAL bHLH transcription factor 1, erythroid differentiation factor, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 1:47216289-47232225

Previous symbols: [ "TCL5" ]

Links

ENSG00000162367 ∙ NCBI:6886 ∙ OMIM:187040 ∙ HGNC:11556 ∙ Uniprot:P17542 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAL1 gene.

• Inborn genetic diseases (16 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAL1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					2	2
Total	0	0	16	2	2

Variants in TAL1

This is a list of pathogenic ClinVar variants found in the TAL1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-47219787-G-A		not specified	Uncertain significance (Feb 05, 2024)
1-47219791-C-A		not specified	Uncertain significance (May 11, 2022)
1-47219867-G-C		not specified	Uncertain significance (Aug 21, 2023)
1-47219897-G-A		TAL1-related disorder	Benign (Sep 24, 2019)
1-47219903-T-G		TAL1-related disorder	Likely benign (Aug 13, 2019)
1-47219911-C-T		not specified	Uncertain significance (Sep 26, 2022)
1-47219916-C-T		not specified	Uncertain significance (Jan 19, 2024)
1-47219917-C-T		not specified	Uncertain significance (Nov 17, 2022)
1-47219921-A-C		TAL1-related disorder	Benign (Jun 11, 2019)
1-47219924-A-C		TAL1-related disorder	Likely benign (Jul 01, 2019)
1-47224012-A-G		not specified	Uncertain significance (Dec 27, 2023)
1-47224026-G-A			Likely benign (Jun 25, 2018)
1-47224057-G-A		not specified	Uncertain significance (Oct 29, 2021)
1-47224059-G-C		TAL1-related disorder	Likely benign (Mar 05, 2019)
1-47224170-C-G			Benign (Jun 19, 2021)
1-47225320-C-G			Benign (Jun 19, 2021)
1-47225448-G-C			Likely benign (Jan 01, 2023)
1-47225494-G-C		not specified	Uncertain significance (Feb 01, 2023)
1-47225497-G-A		not specified	Uncertain significance (Oct 26, 2021)
1-47225506-G-T		not specified	Uncertain significance (Jul 08, 2022)
1-47225549-C-T		not specified	Uncertain significance (May 03, 2023)
1-47225578-G-A		TAL1-related disorder	Likely benign (Feb 26, 2023)
1-47225579-C-A		TAL1-related disorder	Likely benign (Feb 26, 2023)
1-47225627-C-T		not specified	Uncertain significance (Feb 04, 2022)
1-47225677-G-A		not specified	Uncertain significance (Oct 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAL1	protein_coding	protein_coding	ENST00000294339	3	15931

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.566	0.423	121909	0	5	121914	0.0000205

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.979	122	156	0.780	0.00000925	2055
Missense in Polyphen		36	66.378	0.54235		696
Synonymous	1.25	59	72.6	0.813	0.00000454	745
Loss of Function	2.05	1	6.74	0.148	4.12e-7	90

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000420	0.0000368
Middle Eastern	0.00	0.00
South Asian	0.0000338	0.0000329
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Implicated in the genesis of hemopoietic malignancies. It may play an important role in hemopoietic differentiation. Serves as a positive regulator of erythroid differentiation (By similarity). {ECO:0000250, ECO:0000269|PubMed:1396592}.
• Disease: DISEASE: Note=A chromosomal aberration involving TAL1 may be a cause of some T-cell acute lymphoblastic leukemias (T-ALL). Translocation t(1;14)(p32;q11) with T-cell receptor alpha chain (TCRA) genes. {ECO:0000269|PubMed:2303035}.
• Pathway: EGF-Core;HDAC6 interactions;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;RUNX1 regulates transcription of genes involved in differentiation of HSCs;Transcriptional regulation by RUNX1 (Consensus)

Recessive Scores

• pRec: 0.186

Haploinsufficiency Scores

• pHI: 0.779
• hipred: Y
• hipred_score: 0.830
• ghis: 0.612

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tal1
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; renal/urinary system phenotype; immune system phenotype; embryo phenotype; pigmentation phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; cellular phenotype; homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: tal1
• Affected structure: myeloid cell
• Phenotype tag: abnormal
• Phenotype quality: absent

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;angiogenesis;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;locomotory behavior;spinal cord association neuron differentiation;hemopoiesis;erythrocyte differentiation;megakaryocyte differentiation;platelet formation;basophil differentiation;positive regulation of protein complex assembly;embryonic hemopoiesis;megakaryocyte development;regulation of cell population proliferation;erythrocyte maturation;cell fate commitment;negative regulation of erythrocyte differentiation;positive regulation of erythrocyte differentiation;positive regulation of chromatin assembly or disassembly;positive regulation of transcription, DNA-templated;positive regulation of mitotic cell cycle;positive regulation of transcription by RNA polymerase II;positive regulation of cell division;astrocyte fate commitment;definitive hemopoiesis;hemangioblast cell differentiation;hematopoietic stem cell differentiation;regulation of mast cell differentiation;positive regulation of protein tyrosine kinase activity;regulation of hematopoietic stem cell differentiation;regulation of stem cell population maintenance;positive regulation of signaling receptor activity
• Cellular component: histone deacetylase complex;nuclear chromatin;nucleus;nucleoplasm;transcription factor complex;Lsd1/2 complex
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;RNA polymerase II distal enhancer sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;RNA polymerase II transcription factor binding;chromatin binding;DNA-binding transcription factor activity;protein binding;enzyme binding;histone deacetylase binding;transcription regulatory region DNA binding;protein heterodimerization activity;E-box binding