Hs02982922_cn

• Gene Symbol: AATK
• Assay Reference Genome Location: Chr.17:81117402 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 9625
• Gene Name: apoptosis associated tyrosine kinase
• Gene Aliases: AATYK, AATYK1, LMR1, LMTK1, PPP1R77, p35BP
• Location: Chr.17:81117295-81166072 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AATK	NM_001080395.2	14	5205	NP_001073864.2
	NM_004920.2	13	4983	NP_004911.2
	XM_006722193.2	14	5198	XP_006722256.1
	XM_006722194.2	13	5050	XP_006722257.1
	XM_006722195.2	12	4992	XP_006722258.1
	XM_006722196.2	14	5167	XP_006722259.1
	XM_011525509.2	13	6634	XP_011523811.1
	XM_011525510.2	13	5010	XP_011523812.1
	XM_011525511.2	9	4863	XP_011523813.1
	XM_017025421.1	13	4997	XP_016880910.1
	XM_017025422.1	13	5156	XP_016880911.1
	AB014541.2	13	4983
	AK094931.1	6	2004
	AK131395.1	14	4624	BAD18544.1
	AK131529.1	16	4834	BAD18667.1
	BC047378.1	4	2770	AAH47378.1
	BI256809.1	1	188

Target Gene Details

• Entrez Gene ID: 10458
• Gene Name: BAI1 associated protein 2
• Gene Aliases: BAP2, FLAF3, IRSP53
• Location: Chr.17:81035147-81117432 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BAIAP2	NM_001144888.1			NP_001138360.1
	NM_006340.2			NP_006331.1
	NM_017451.2			NP_059345.1
	AB017119.1			BAA74773.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv828128	Chr.17:80659041 - 81736487 on Build GRCh38	Loss	CEP131 PDE6G FAAP100 LOC107985021 SLC25A10 MIR657 ACTG1 CHMP6 MIR3065 LOC400627 MRPL12 TMEM105 LOC101928855 OXLD1 LOC105371921 LOC107985022 FSCN2 SLC38A10 MIR3186 ARL16 RPTOR BAIAP2-AS1 MIR1250 BAHCC1 MIR4740 LINC00482 HGS AATK-AS1 LOC100130370 CCDC137 MIR338 AATK BAIAP2 MIR6786 LOC100129503 NPLOC4 C17orf89 TSPAN10 LOC105371925 TEPSIN
nsv833564	Chr.17:81014713 - 81164054 on Build GRCh38	Loss	BAIAP2-AS1 MIR1250 BAIAP2 MIR657 MIR3065 MIR338 AATK
nsv1065052	Chr.17:81080876 - 81204920 on Build GRCh38	Gain	CEP131 MIR1250 BAIAP2 MIR657 MIR3065 AATK-AS1 MIR338 AATK
nsv470619	Chr.17:81032233 - 81349843 on Build GRCh38	Loss	CEP131 BAIAP2-AS1 MIR1250 MIR657 MIR3065 LINC00482 AATK-AS1 MIR338 AATK TMEM105 BAIAP2 C17orf89 SLC38A10 LOC105371925 TEPSIN
dgv3292n100	Chr.17:81019582 - 81204920 on Build GRCh38	Gain	CEP131 BAIAP2-AS1 MIR1250 BAIAP2 MIR657 MIR3065 AATK-AS1 MIR338 AATK
nsv1066947	Chr.17:81094837 - 81181290 on Build GRCh38	Loss	MIR1250 BAIAP2 MIR657 MIR3065 AATK-AS1 MIR338 AATK
nsv952388	Chr.17:81034701 - 81137300 on Build GRCh38	Deletion	BAIAP2-AS1 MIR1250 BAIAP2 MIR657 MIR3065 MIR338 AATK
nsv523417	Chr.17:81115790 - 81164271 on Build GRCh38	Gain	MIR1250 BAIAP2 MIR657 MIR3065 MIR338 AATK

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase, scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

protein phosphorylation
plasma membrane organization
axonogenesis
insulin receptor signaling pathway
regulation of cell shape
response to bacterium
dendrite development
positive regulation of actin filament polymerization
regulation of actin cytoskeleton organization
Fc-gamma receptor signaling pathway involved in phagocytosis
vascular endothelial growth factor receptor signaling pathway
regulation of synaptic plasticity
actin filament bundle assembly
actin crosslink formation
positive regulation of dendritic spine morphogenesis
cell-cell adhesion
positive regulation of actin cytoskeleton reorganization

Function(s)

protein serine/threonine kinase activity
ATP binding
protein binding
protein C-terminus binding
cytoskeletal adaptor activity
PDZ domain binding
identical protein binding
proline-rich region binding
cadherin binding involved in cell-cell adhesion