Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
AT-rich interactive domain-containing protein 1B
BAF250b |
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
gptkb:Coffin-Siris_syndrome intellectual disability |
| gptkbp:discoveredBy |
genetic studies
|
| gptkbp:encodes |
AT-rich interactive domain-containing protein 1B
|
| gptkbp:Entrez_Gene_ID |
57492
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
regulation of gene expression
chromatin remodeling |
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:18041
|
| https://www.w3.org/2000/01/rdf-schema#label |
ARID1B
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
6q25.3 |
| gptkbp:memberOf |
gptkb:SWI/SNF_chromatin_remodeling_complex
|
| gptkbp:mutationAssociatedWith |
distinct facial features
hypotonia developmental delay speech impairment |
| gptkbp:numberOfExons |
21
|
| gptkbp:OMIM |
614556
|
| gptkbp:orthologInMouse |
Arid1b
|
| gptkbp:proteinFamily |
ARID family
|
| gptkbp:UniProtID |
Q8NFD5
|
| gptkbp:bfsParent |
gptkb:ARID1A
|
| gptkbp:bfsLayer |
5
|