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	SH2B1 ATP2A1 CD19 MIR4517 ATXN2L ATP2A1-AS1 TUFM NFATC2IP LAT RABEP2 MIR4721 SPNS1
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	SH2B1 ATP2A1 CD19 MIR4517 ATXN2L ATP2A1-AS1 TUFM NFATC2IP LAT RABEP2 MIR4721 SPNS1
esv3638349	Chr.16:28860611 - 28907894 on Build GRCh38	Gain	SH2B1 ATP2A1 ATP2A1-AS1 RABEP2
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	ATP2A1 LOC101928215 NPIP ATP2A1-AS1 EIF3C NFATC2IP SGF29 LAT CLN3 MIR4721 SH2B1 CD19 IL27 MIR4517 NPIPB6 MIR6862-1 MIR6862-2 XPO6 RRN3P2 EIF3CL NPIPB8 SULT1A2 TUFM APOBR RABEP2 NUPR1 SBK1 SULT1A1 ATXN2L NPIPB9 SPNS1
nsv519100	Chr.16:28826194 - 29032129 on Build GRCh38	Gain	SH2B1 ATP2A1 CD19 MIR4517 ATXN2L ATP2A1-AS1 TUFM NFATC2IP LAT RABEP2 MIR4721 SPNS1
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	ATP2A1 LOC101928215 NPIP ATP2A1-AS1 EIF3C NFATC2IP SGF29 LAT CLN3 MIR4721 SH2B1 CD19 IL27 LOC107984832 MIR4517 MIR6862-1 MIR6862-2 RRN3P2 EIF3CL NPIPB8 SULT1A2 TUFM APOBR RABEP2 NUPR1 SULT1A1 ATXN2L NPIPB9 SPNS1
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	SH2B1 ATP2A1 CD19 MIR4517 ATXN2L ATP2A1-AS1 TUFM NFATC2IP LAT RABEP2 MIR4721 SPNS1
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	SH2B1 ATP2A1 CD19 MIR4517 ATXN2L ATP2A1-AS1 TUFM NFATC2IP LAT RABEP2 MIR4721 SPNS1
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	SH2B1 ATP2A1 CD19 MIR4517 ATXN2L ATP2A1-AS1 TUFM NFATC2IP LAT RABEP2 MIR4721 SPNS1
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	ATP2A1 MIR6862-2 ATP2A1-AS1 EIF3C NPIPB8 TUFM NFATC2IP LAT RABEP2 MIR4721 SH2B1 CD19 MIR4517 SULT1A1 ATXN2L NPIPB9 SPNS1

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