Hs02149223_cn

• Gene Symbol: ABCA2
• Assay Reference Genome Location: Chr.9:137027574 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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C9orf139	NM_207511.2	1	111	NP_997394.1
	AK124899.1	1	111	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 LRRC26 DPP7 SAPCD2 CLIC3 C9orf142 PTGDS ABCA2 MAN1B1-AS1 UAP1L1 MIR3621 NPDC1 MAN1B1 TMEM210 PRR31 LOC101930307 GRIN1 ENTPD2 C9orf139 LCNL1
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	TOR4A NDOR1 FBXW5 EDF1 CLIC3 RABL6 MIR4292 NRARP ENTPD8 C9orf172 MAMDC4 LOC101930307 GRIN1 C9orf139 FUT7 LRRC26 TMEM203 DPP7 MIR7114 TPRN C9orf142 CCDC183-AS1 EXD3 ABCA2 MAN1B1-AS1 UAP1L1 SSNA1 MAN1B1 PRR31 CYSRT1 C8G FAM166A C9orf173-AS1 MIR4479 SAPCD2 PHPT1 TUBB4B NSMF CCDC183 TRAF2 MIR3621 RNF224 NPDC1 TMEM210 LCN12 ENTPD2 LCNL1 NOXA1 SLC34A3 ANAPC2 PTGDS NELFB RNF208 STPG3 PNPLA7
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	FUT7 DPP7 SAPCD2 CLIC3 C9orf142 PTGDS ABCA2 MAN1B1-AS1 UAP1L1 NPDC1 MAN1B1 PRR31 LOC101930307 LCN12 ENTPD2 C9orf139 C8G LCNL1
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	FBXW5 EDF1 CLIC3 RABL6 MIR4292 MIR4674 SNORA17A EGFL7 C9orf172 MIR126 MAMDC4 LOC101930307 GRIN1 C9orf139 FUT7 LRRC26 DPP7 SNHG7 PMPCA C9orf142 CCDC183-AS1 LOC100128593 ABCA2 MAN1B1-AS1 UAP1L1 INPP5E SEC16A MAN1B1 LCN8 PRR31 DNLZ C8G MIR4479 SAPCD2 SDCCAG3 PHPT1 CARD9 MIR4673 LCN10 CCDC183 MIR6722 TRAF2 MIR3621 NPDC1 TMEM141 FAM69B C9orf163 TMEM210 SNORA17B NOTCH1 LCN12 ENTPD2 AGPAT2 LCN15 LCNL1 NALT1 PTGDS LCN6 LINC01451 HSPC324 SNAPC4
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	TOR4A NDOR1 FBXW5 EDF1 CLIC3 RABL6 MIR4292 NRARP SNORA17A EGFL7 C9orf172 MIR126 MAMDC4 LOC101930307 GRIN1 C9orf139 FUT7 LRRC26 TMEM203 DPP7 SNHG7 TPRN C9orf142 CCDC183-AS1 EXD3 LOC100128593 ABCA2 MAN1B1-AS1 UAP1L1 SSNA1 MAN1B1 LCN8 PRR31 CYSRT1 C8G FAM166A C9orf173-AS1 MIR4479 SAPCD2 PHPT1 TUBB4B LCN10 CCDC183 MIR6722 TRAF2 MIR3621 RNF224 NPDC1 TMEM141 FAM69B TMEM210 SNORA17B LCN12 ENTPD2 AGPAT2 LCN15 LCNL1 SLC34A3 ANAPC2 PTGDS LCN6 NELFB LINC01451 RNF208 STPG3 HSPC324
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	FUT7 NPDC1 ENTPD2 C9orf139 ABCA2

More Information

• Set Membership: Intragenic, Exonic, 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