Hs01204581_cn

• Gene Symbol: ATP2A1
• Assay Reference Genome Location: Chr.16:28904502 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 487
• Gene Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
• Gene Aliases: ATP2A, SERCA1
• Location: Chr.16:28878488-28904509 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2A1	NM_001286075.1			NP_001273004.1
	NM_004320.4			NP_004311.1
	NM_173201.3			NP_775293.1
	AK092691.1
	AK128456.1
	BC037354.1			AAH37354.1
	BU737186.1
	BX537389.1			CAD97631.1
	BX537784.1			CAD97841.1
	BX647365.1
	BX647366.1
	BX647367.1
	BX647368.1
	BX648544.1
	BX649072.1

Target Gene Details

• Entrez Gene ID: 79874
• Gene Name: rabaptin, RAB GTPase binding effector protein 2
• Gene Aliases: FRA
• Location: Chr.16:28904421-28925211 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABEP2	NM_024816.2	13	2199	NP_079092.2
	AK026935.1	13	2198	BAB15594.1
	AK092299.1	13	2740
	BC058900.1	11	2094	AAH58900.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4987n54	Chr.16:28824884 - 29032129 on Build GRCh38	Gain	ATXN2L MIR4721 MIR4517 CD19 ATP2A1-AS1 ATP2A1 NFATC2IP SPNS1 RABEP2 SH2B1 TUFM LAT
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	ATXN2L MIR4721 MIR4517 CD19 ATP2A1-AS1 ATP2A1 NFATC2IP SPNS1 RABEP2 SH2B1 TUFM LAT
esv3638349	Chr.16:28860611 - 28907894 on Build GRCh38	Gain	ATP2A1-AS1 ATP2A1 RABEP2 SH2B1
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	NPIPB8 ATXN2L APOBR NPIPB9 LOC101928215 NPIP NFATC2IP SULT1A2 MIR4721 MIR6862-1 EIF3CL SULT1A1 XPO6 NUPR1 CLN3 EIF3C RABEP2 RRN3P2 MIR6862-2 LAT NPIPB6 SBK1 MIR4517 CD19 ATP2A1-AS1 ATP2A1 SPNS1 SH2B1 TUFM SGF29 IL27
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	ATXN2L MIR4721 MIR4517 CD19 ATP2A1-AS1 ATP2A1 NFATC2IP SPNS1 RABEP2 SH2B1 TUFM LAT
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	NPIPB8 ATXN2L APOBR NPIPB9 LOC101928215 NPIP NFATC2IP SULT1A2 MIR4721 MIR6862-1 EIF3CL SULT1A1 LOC107984832 NUPR1 CLN3 EIF3C RABEP2 RRN3P2 MIR6862-2 LAT MIR4517 CD19 ATP2A1-AS1 ATP2A1 SPNS1 SH2B1 TUFM SGF29 IL27
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	ATXN2L MIR4721 MIR4517 CD19 ATP2A1-AS1 ATP2A1 NFATC2IP SPNS1 RABEP2 SH2B1 TUFM LAT
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	ATXN2L MIR4721 MIR4517 CD19 ATP2A1-AS1 ATP2A1 NFATC2IP SPNS1 RABEP2 SH2B1 TUFM LAT
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	ATXN2L MIR4721 MIR4517 CD19 ATP2A1-AS1 ATP2A1 NFATC2IP SPNS1 RABEP2 SH2B1 TUFM LAT
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	NPIPB8 ATXN2L NPIPB9 EIF3C NFATC2IP RABEP2 MIR6862-2 LAT MIR4721 MIR4517 CD19 ATP2A1-AS1 ATP2A1 SPNS1 SH2B1 TUFM SULT1A1

More Information

Additional Information:

For this assay, SNP(s) [rs114173613] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

calcium ion transport
apoptotic mitochondrial changes
positive regulation of fast-twitch skeletal muscle fiber contraction
positive regulation of endoplasmic reticulum calcium ion concentration
negative regulation of endoplasmic reticulum calcium ion concentration
ion transmembrane transport
response to endoplasmic reticulum stress
positive regulation of mitochondrial calcium ion concentration
maintenance of mitochondrion location
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
calcium ion import
calcium ion transmembrane transport
relaxation of skeletal muscle
regulation of cardiac conduction
endocytosis
protein transport
positive regulation of GTPase activity

Function(s)

calcium-transporting ATPase activity
calcium ion binding
protein binding
ATP binding
protein homodimerization activity
GTPase activator activity
growth factor activity