Identity
HGNC
LOCATION
6q25.3
LOCUSID
ALIAS
6A3-5,BAF250B,BRIGHT,CSS1,DAN15,ELD/OSA1,MRD12,OSA2,P250R
FUSION GENES
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: 57492
MIM: 614556
HGNC: 18040
Ensembl: ENSG00000049618
Variants:
dbSNP: 57492
ClinVar: 57492
TCGA: ENSG00000049618
COSMIC: ARID1B
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| RMTs methylate histone arginines | REACTOME | R-HSA-3214858 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38171562 | 2024 | [Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene]. | 0 |
| 38718796 | 2024 | ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum. | 0 |
| 38171562 | 2024 | [Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene]. | 0 |
| 38718796 | 2024 | ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum. | 0 |
| 36354291 | 2023 | Paraspeckles interact with SWI/SNF subunit ARID1B to regulate transcription and splicing. | 5 |
| 36883912 | 2023 | Correlation between ARID1B gene mutation (p.A460, p.V215G) and prognosis of high-risk refractory neuroblastoma. | 0 |
| 36354291 | 2023 | Paraspeckles interact with SWI/SNF subunit ARID1B to regulate transcription and splicing. | 5 |
| 36883912 | 2023 | Correlation between ARID1B gene mutation (p.A460, p.V215G) and prognosis of high-risk refractory neuroblastoma. | 0 |
| 33686214 | 2022 | Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders. | 18 |
| 35315036 | 2022 | [Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome]. | 0 |
| 35672450 | 2022 | ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease. | 5 |
| 36352633 | 2022 | Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients. | 1 |
| 33686214 | 2022 | Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders. | 18 |
| 35315036 | 2022 | [Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome]. | 0 |
| 35672450 | 2022 | ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease. | 5 |
Citation
Dessen P
ARID1B (AT-rich interaction domain 1B)
Atlas Genet Cytogenet Oncol Haematol. 2013-03-01
Online version: http://atlasgeneticsoncology.org/gene/53195
