TAL2
Basic information
Region (hg38): 9:105662457-105663124
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAL2 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 | 0 | |||||
| missense | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 0 | 0 |
Variants in TAL2
This is a list of pathogenic ClinVar variants found in the TAL2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-105662530-C-T | not specified | Uncertain significance (May 14, 2024) | ||
| 9-105662533-T-C | not specified | Uncertain significance (Jun 29, 2023) | ||
| 9-105662573-G-A | not specified | Uncertain significance (Jan 20, 2023) | ||
| 9-105662677-C-G | not specified | Uncertain significance (Jul 21, 2021) | ||
| 9-105662716-A-G | not specified | Uncertain significance (Feb 05, 2024) | ||
| 9-105662767-A-G | not specified | Uncertain significance (Jun 29, 2023) | ||
| 9-105662778-G-C | not specified | Uncertain significance (Nov 18, 2022) | ||
| 9-105662803-C-G | not specified | Uncertain significance (Oct 12, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TAL2 | protein_coding | protein_coding | ENST00000334077 | 1 | 630 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.474 | 0.447 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.144 | 53 | 56.0 | 0.946 | 0.00000297 | 699 |
| Missense in Polyphen | 24 | 27 | 0.88888 | 305 | ||
| Synonymous | 0.593 | 20 | 23.7 | 0.845 | 0.00000127 | 224 |
| Loss of Function | 1.21 | 0 | 1.70 | 0.00 | 7.16e-8 | 22 |
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) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Disease
- DISEASE: Note=A chromosomal aberration involving TAL2 may be a cause of some T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(7;9)(q34;q32) with TCRB. {ECO:0000269|PubMed:1763056}.;
Recessive Scores
- pRec
- 0.117
Intolerance Scores
- loftool
- 0.217
- rvis_EVS
- 0.46
- rvis_percentile_EVS
- 78.16
Haploinsufficiency Scores
- pHI
- 0.151
- hipred
- N
- hipred_score
- 0.267
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tal2
- Phenotype
- growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms 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); 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);
Zebrafish Information Network
- Gene name
- tal2
- Affected structure
- lateral floor plate
- Phenotype tag
- abnormal
- Phenotype quality
- cellular quality
Gene ontology
- Biological process
- regulation of transcription by RNA polymerase II;post-embryonic development;thalamus development;midbrain development;multicellular organism growth
- Cellular component
- nucleus
- Molecular function
- RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;protein dimerization activity