Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
chromosomal band
|
| gptkbp:associatedWith |
gptkb:Angelman_syndrome
gptkb:Prader-Willi_syndrome 15q duplication syndrome |
| gptkbp:contains |
BP1-BP3 breakpoints
PWACR (Prader-Willi/Angelman critical region) |
| gptkbp:containsGene |
gptkb:GABRA5
gptkb:GABRG3 gptkb:SNRPN gptkb:GABRB3 gptkb:UBE3A |
| gptkbp:containsImprintedGenes |
true
|
| gptkbp:deletionLeadsTo |
Angelman syndrome (maternal)
Prader-Willi syndrome (paternal) |
| gptkbp:duplicationCauses |
15q duplication syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
chromosome 15q11-q13
|
| gptkbp:imprintingRegion |
true
|
| gptkbp:locatedOn |
gptkb:chromosome_15
|
| gptkbp:locatedOnChromosome |
15q11.2-q13.1
|
| gptkbp:methylationSensitive |
true
|
| gptkbp:parentOfOriginEffect |
true
|
| gptkbp:bfsParent |
gptkb:E6-associated_protein
gptkb:Gamma-aminobutyric_acid_receptor_subunit_beta-3 gptkb:SNORD115 gptkb:SNORD116 gptkb:Snrpn |
| gptkbp:bfsLayer |
8
|