Hs01702055_cn

• Gene Symbol: ABCA2
• Assay Reference Genome Location: Chr.9:137028908 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: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCA2	NM_212533.2			NP_997698.1
	BM921499.1

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

More Information

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

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter, primary active transporter, 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