Hs01006948_cn

• Gene Symbol: ABCA2
• Assay Reference Genome Location: Chr.9:137027475 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 20
• Gene Name: ATP binding cassette subfamily A member 2
• Gene Aliases: ABC2
• Location: Chr.9:137007234-137028922 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCA2	NM_001606.4			NP_001597.2
	NM_212533.2			NP_997698.1
	XM_006716996.3			XP_006717059.1
	AF178941.1			AAG09372.1
	AF327657.1			AAK14334.1
	AK308738.1
	BC064542.1			AAH64542.1
	BM921499.1
	CD676110.1

Target Gene Details

• Entrez Gene ID: 401563
• Gene Name: chromosome 9 open reading frame 139
• Gene Aliases: -
• Location: Chr.9:137027464-137037770 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C9orf139	NM_207511.2			NP_997394.1
	AK124899.1			BAC85986.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv13007n54	Chr.9:136966179 - 137173890 on Build GRCh38	Loss	FUT7 PTGDS PRR31 LCNL1 GRIN1 MAN1B1 ABCA2 DPP7 MIR3621 CLIC3 LRRC26 SAPCD2 ENTPD2 TMEM210 C9orf142 MAN1B1-AS1 LOC101930307 C9orf139 NPDC1 UAP1L1
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	MAN1B1 DPP7 NSMF FAM166A C9orf173-AS1 MAMDC4 TMEM210 C8G RNF224 MIR4479 GRIN1 EDF1 EXD3 PNPLA7 TRAF2 C9orf172 RABL6 MIR4292 SSNA1 ANAPC2 RNF208 FUT7 CCDC183-AS1 LCNL1 CYSRT1 MIR7114 NRARP TMEM203 LCN12 TOR4A LRRC26 SAPCD2 PHPT1 C9orf142 LOC101930307 C9orf139 UAP1L1 PTGDS ENTPD8 PRR31 NELFB ABCA2 MIR3621 CLIC3 TUBB4B NDOR1 NOXA1 FBXW5 SLC34A3 ENTPD2 CCDC183 STPG3 MAN1B1-AS1 TPRN NPDC1
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	FUT7 PTGDS PRR31 LCNL1 MAN1B1 ABCA2 DPP7 LCN12 CLIC3 SAPCD2 ENTPD2 C9orf142 MAN1B1-AS1 LOC101930307 C8G C9orf139 NPDC1 UAP1L1
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	SNORA17A MAN1B1 DPP7 INPP5E DNLZ SNAPC4 MAMDC4 TMEM210 C8G LINC01451 MIR4673 MIR126 LCN10 MIR4479 GRIN1 EGFL7 EDF1 LCN8 SNORA17B TRAF2 MIR4674 C9orf163 C9orf172 RABL6 HSPC324 MIR4292 LCN6 FUT7 CCDC183-AS1 LCNL1 TMEM141 LCN12 LRRC26 SAPCD2 PHPT1 NALT1 AGPAT2 C9orf142 LOC101930307 C9orf139 MIR6722 UAP1L1 LOC100128593 NOTCH1 PTGDS PRR31 LCN15 ABCA2 SDCCAG3 CARD9 MIR3621 CLIC3 SNHG7 PMPCA FBXW5 ENTPD2 CCDC183 MAN1B1-AS1 FAM69B SEC16A NPDC1
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	SNORA17A MAN1B1 DPP7 FAM166A C9orf173-AS1 MAMDC4 TMEM210 C8G LINC01451 MIR126 RNF224 LCN10 MIR4479 GRIN1 EGFL7 EDF1 EXD3 LCN8 SNORA17B TRAF2 C9orf172 RABL6 HSPC324 MIR4292 SSNA1 ANAPC2 LCN6 RNF208 FUT7 CCDC183-AS1 LCNL1 CYSRT1 TMEM141 NRARP TMEM203 LCN12 TOR4A LRRC26 SAPCD2 PHPT1 AGPAT2 C9orf142 LOC101930307 C9orf139 MIR6722 UAP1L1 LOC100128593 PTGDS PRR31 NELFB LCN15 ABCA2 MIR3621 CLIC3 SNHG7 TUBB4B NDOR1 FBXW5 SLC34A3 ENTPD2 CCDC183 STPG3 MAN1B1-AS1 TPRN FAM69B NPDC1
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	FUT7 ENTPD2 ABCA2 C9orf139 NPDC1

More Information

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

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter, primary active transporter, non-motor actin binding protein, transporter

Gene Ontology Categories:

Process(es)

regulation of transcription from RNA polymerase II promoter
lipid metabolic process
transport
regulation of intracellular cholesterol transport
cholesterol efflux
phospholipid efflux
response to drug
cholesterol homeostasis
response to steroid hormone
transmembrane transport

Function(s)

nucleotide binding
ATP binding
ATPase activity
ATPase activity, coupled to transmembrane movement of substances