Hs06448205_cn

• Gene Symbol: ATP9B
• Assay Reference Genome Location: Chr.18:79110006 on build GRCh38
• Cytoband: 18q23

Target Gene Details

• Entrez Gene ID: 374868
• Gene Name: ATPase phospholipid transporting 9B (putative)
• Gene Aliases: ATPASEP, ATPIIB, HUSSY-20, NEO1L, hMMR1
• Location: Chr.18:79069275-79378391 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP9B	NM_001306085.1			NP_001293014.1
	NM_198531.4			NP_940933.3
	XM_011525963.2			XP_011524265.1
	XM_011525964.2			XP_011524266.1
	XM_011525965.2			XP_011524267.1
	XM_011525966.2			XP_011524268.1
	XM_017025726.1			XP_016881215.1
	XM_017025727.1			XP_016881216.1
	XM_017025728.1			XP_016881217.1
	XM_017025729.1			XP_016881218.1
	XM_017025730.1			XP_016881219.1
	XM_017025731.1			XP_016881220.1
	XM_017025732.1			XP_016881221.1
	XM_017025733.1			XP_016881222.1
	XM_017025734.1			XP_016881223.1
	XM_017025735.1			XP_016881224.1
	XM_017025736.1			XP_016881225.1
	XM_017025737.1			XP_016881226.1
	XM_017025742.1			XP_016881231.1
	AB373110.1
	AK093704.1
	AK097757.1
	AK295981.1
	AK308291.1
	BC053561.1			AAH53561.1
	BC125219.1
	BC125220.1
	HY028472.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1065064	Chr.18:79091898 - 79405383 on Build GRCh38	Gain	LOC107985149 ATP9B LOC100996274 NFATC1
nsv577794	Chr.18:78951366 - 79472709 on Build GRCh38	Gain	LOC107985149 ATP9B SALL3 LOC100996274 NFATC1
esv3643288	Chr.18:79087927 - 79251969 on Build GRCh38	Loss	ATP9B LOC100996274
nsv1065902	Chr.18:78538045 - 80257174 on Build GRCh38	Gain	TXNL4A PARD6G-AS1 LOC107985149 ATP9B PQLC1 LOC284240 NFATC1 RBFADN KCNG2 PARD6G HSBP1L1 CTDP1 SALL3 RBFA LOC100996274 LOC284241 ADNP2 LOC105376875
esv3643290	Chr.18:79088460 - 79140822 on Build GRCh38	Loss	ATP9B
esv3643283	Chr.18:79003881 - 79112789 on Build GRCh38	Loss	ATP9B
esv2717497	Chr.18:78170182 - 79635788 on Build GRCh38	Deletion	LOC107985149 ATP9B SALL3 LOC284240 LOC100996274 NFATC1
nsv1141945	Chr.18:78170394 - 79635820 on Build GRCh38	Deletion	LOC107985149 ATP9B SALL3 LOC284240 LOC100996274 NFATC1

More Information

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

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

retrograde vesicle-mediated transport, Golgi to ER
endocytosis
phospholipid translocation
establishment of protein localization to Golgi

Function(s)

magnesium ion binding
phospholipid-translocating ATPase activity
ATP binding