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

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