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

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