Hs03922907_cn

• Gene Symbol: ABCA3
• Assay Reference Genome Location: Chr.16:2280303 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 21
• Gene Name: ATP binding cassette subfamily A member 3
• Gene Aliases: ABC-C, ABC3, EST111653, LBM180, SMDP3
• Location: Chr.16:2275878-2340746 on Build GRCh38
• Assay Gene Location: Within Intron 28

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCA3	NM_001089.2			NP_001080.2
	AB070929.1			BAB86781.1
	AB210044.1			BAE06126.1
	BC140895.1
	BC146866.1
	BC151840.1
	U78735.1			AAC50967.1
	X97187.1			CAA65825.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	SLC9A3R2 NUBP2 LOC106660606 TELO2 CCNF CCDC154 SYNGR3 HBM TSC2 MIR3180-5 MAPK8IP3 TPSG1 PKD1 SNORA10 HBZ SNRNP25 C16orf59 HAGHL RAB11FIP3 RAB26 LOC100134368 LINC00235 UBE2I DECR2 MIR3177 SNHG19 LINC00254 PIGQ HBA1 MRPS34 FAM173A LOC105371049 E4F1 MIR662 LOC101929280 PRSS27 MIR6511B1 LOC107984876 CCDC78 SSTR5 POLR3K C1QTNF8 MIR4516 LUC7L METRN NTHL1 IGFALS TBC1D24 PGP MLST8 METTL26 WFIKKN1 LOC100287175 ARHGDIG SPSB3 ERVK13-1 LOC105371038 NME3 PRR25 WDR24 TPSAB1 RHBDL1 MIR6768 BAIAP3 ECI1 LOC729652 STUB1 WASIR2 LOC107987233 LOC105371047 CRAMP1 TMEM8A DNASE1L2 NPW MSLN ZNF598 AXIN1 RNF151 NHLRC4 LOC652276 MIR6767 MIR3178 FLJ42627 CEMP1 ABCA3 NTN3 WDR90 EME2 NPRL3 LMF1 SNHG9 NDUFB10 TBL3 C16orf91 MPG MIR5587 SNORA64 FAHD1 CLCN7 PDPK1 MRPL28 MIR940 MIR6859-4 TSR3 HAGH RGS11 MIR3176 ATP6V0C RNPS1 LOC105371184 SOX8 LMF1-AS1 GNPTG RPL23AP5 RHBDF1 SNORA78 GNG13 PDIA2 CAPN15 FAM234A RAB40C MIR3677 JMJD8 CHTF18 BRICD5 LOC105371045 CACNA1H UNKL FBXL16 MIR1225 MSRB1 TMEM204 NME4 RPS2 NOXO1 CASKIN1 HBA2 NARFL HS3ST6 PRR35 RPUSD1 LOC105371046 PTX4 RPL3L GFER TPSB2 DDX11L10 TPSD1 AMDHD2 ABCA17P HN1L MIR4717 PRSS29P MEIOB TRAF7 IFT140 MCRIP2 KCTD5 SSTR5-AS1 SNORD60 HBQ1 RHOT2
nsv471072	Chr.16:1971892 - 2317508 on Build GRCh38	Loss	SLC9A3R2 LOC106660606 TBL3 NOXO1 SYNGR3 PGP MLST8 CASKIN1 TSC2 MIR3180-5 PKD1 ECI1 RAB26 MIR940 SNHG19 GFER LOC105371049 RNPS1 E4F1 MIR4717 DNASE1L2 NPW MIR6511B1 TRAF7 ZNF598 MIR3677 MIR4516 BRICD5 ABCA3 NTHL1 SNORD60 MIR1225
nsv457353	Chr.16:2255538 - 2365929 on Build GRCh38	Loss	MIR3677 LOC106660606 RNPS1 ABCA17P MIR940 MIR4717 ABCA3
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	LOC106660606 CCNF PGP MLST8 CASKIN1 TSC2 MIR3180-5 MIR6768 PKD1 ECI1 C16orf59 LOC729652 PDPK1 RAB26 MIR940 SNHG19 ATP6V0C LOC105371049 RNPS1 AMDHD2 ABCA17P E4F1 MIR4717 DNASE1L2 MIR6511B1 TRAF7 MIR3677 LOC652276 MIR4516 BRICD5 MIR6767 MIR3178 CEMP1 ABCA3 NTN3 SNORD60 TBC1D24 MIR1225
nsv952902	Chr.16:2143400 - 2339999 on Build GRCh38	Deletion	LOC106660606 RNPS1 E4F1 PGP MLST8 MIR4717 DNASE1L2 TRAF7 CASKIN1 MIR3677 ECI1 BRICD5 RAB26 MIR940 ABCA3 SNHG19 SNORD60
nsv571202	Chr.16:2278649 - 2289619 on Build GRCh38	Loss	ABCA3

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)

transport
lipid transport
response to drug
cellular protein metabolic process
response to glucocorticoid
transmembrane transport

Function(s)

transporter activity
lipid transporter activity
ATP binding
ATPase activity, coupled to transmembrane movement of substances