Hs00780254_cn

• Gene Symbol: BRSK2
• Assay Reference Genome Location: Chr.11:1390322 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 9024
• Gene Name: BR serine/threonine kinase 2
• Gene Aliases: C11orf7, PEN11B, SAD1, SADA, STK29
• Location: Chr.11:1389899-1462689 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BRSK2	NM_001256627.1	1	424	NP_001243556.1
	NM_001256629.1	1	424	NP_001243558.1
	NM_003957.3	1	424	NP_003948.2
	NR_046331.1	1	424
	XM_005253218.3	1	136	XP_005253275.1
	XM_006718374.2	1	136	XP_006718437.1
	XM_017018533.1	1	136	XP_016874022.1
	XM_017018536.1	1	136	XP_016874025.1
	AF533876.1	1	422	AAP97723.1
	AF533877.1	1	422	AAP97724.1
	AF533878.1	1	422	AAP97725.1
	AF533879.1	1	422	AAP97726.1
	AF533880.1	1	422	AAP97727.1
	AY166857.1	1	424	AAN87839.1
	AY505125.1			AAS86443.1
	DR001379.1	1	142

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv951279	Chr.11:1337871 - 1491070 on Build GRCh38	Deletion	BRSK2 MOB2
nsv1069995	Chr.11:1389769 - 1390670 on Build GRCh38	Deletion	BRSK2
nsv552981	Chr.11:1362059 - 1412191 on Build GRCh38	Loss	BRSK2
dgv1014n100	Chr.11:1264737 - 1397647 on Build GRCh38	Gain	TOLLIP-AS1 TOLLIP BRSK2
nsv1118201	Chr.11:1389670 - 1390870 on Build GRCh38	Deletion	BRSK2
dgv1537n54	Chr.11:1279176 - 1397647 on Build GRCh38	Loss	TOLLIP-AS1 TOLLIP BRSK2
dgv10n68	Chr.11:1363751 - 1500210 on Build GRCh38	Loss	BRSK2 MOB2
esv2669189	Chr.11:864834 - 1489637 on Build GRCh38	Deletion	BRSK2 MUC2 AP2A2 MUC5AC MOB2 TSPAN4 MUC6 TOLLIP-AS1 TOLLIP MIR6744 LOC101927503 MUC5B CHID1
nsv552982	Chr.11:1383608 - 1428143 on Build GRCh38	Loss	BRSK2
nsv469925	Chr.11:1372479 - 1408386 on Build GRCh38	Loss	BRSK2
esv2743878	Chr.11:864732 - 1489652 on Build GRCh38	Deletion	BRSK2 MUC2 AP2A2 MUC5AC MOB2 TSPAN4 MUC6 TOLLIP-AS1 TOLLIP MIR6744 LOC101927503 MUC5B CHID1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

G2/M transition of mitotic cell cycle
protein phosphorylation
exocytosis
mitotic nuclear division
axonogenesis
peptidyl-serine phosphorylation
establishment of cell polarity
neuron differentiation
actin cytoskeleton reorganization
ERAD pathway
regulation of ATPase activity
cell division
regulation of insulin secretion involved in cellular response to glucose stimulus
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
regulation of retrograde protein transport, ER to cytosol

Function(s)

magnesium ion binding
protein serine/threonine kinase activity
ATP binding
protein kinase binding
tau-protein kinase activity
ATPase binding
ATPase regulator activity