Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10716
MIM: 604616
HGNC: 11590
Ensembl: ENSG00000136535
Variants:
dbSNP: 10716
ClinVar: 10716
TCGA: ENSG00000136535
COSMIC: TBR1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000136535 | ENST00000389554 | Q16650 |
| ENSG00000136535 | ENST00000410035 | Q16650 |
| ENSG00000136535 | ENST00000411412 | H7C0B1 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36579832 | 2023 | Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions. | 3 |
| 36579832 | 2023 | Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions. | 3 |
| 35944998 | 2022 | Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development. | 5 |
| 35944998 | 2022 | Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development. | 5 |
| 34625926 | 2021 | [Identification of a novel TBR1 gene variant in a Chinese pedigree affected with intellectual developmental disorder with autism and speech delay]. | 0 |
| 34625926 | 2021 | [Identification of a novel TBR1 gene variant in a Chinese pedigree affected with intellectual developmental disorder with autism and speech delay]. | 0 |
| 32005960 | 2020 | De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. | 16 |
| 32070431 | 2020 | Age-, tumor-, and metastatic tissue-associated DNA hypermethylation of a T-box brain 1 locus in human kidney tissue. | 9 |
| 32005960 | 2020 | De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. | 16 |
| 32070431 | 2020 | Age-, tumor-, and metastatic tissue-associated DNA hypermethylation of a T-box brain 1 locus in human kidney tissue. | 9 |
| 30250039 | 2018 | Functional characterization of TBR1 variants in neurodevelopmental disorder. | 15 |
| 30268909 | 2018 | Mutations in TBR1 gene leads to cortical malformations and intellectual disability. | 13 |
| 30250039 | 2018 | Functional characterization of TBR1 variants in neurodevelopmental disorder. | 15 |
| 30268909 | 2018 | Mutations in TBR1 gene leads to cortical malformations and intellectual disability. | 13 |
| 25232744 | 2014 | De novo TBR1 mutations in sporadic autism disrupt protein functions. | 54 |
Citation
Dessen P
TBR1 (T-box brain transcription factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74550
