Hs01053548_cn

• Gene Symbol: C9orf139
• Assay Reference Genome Location: Chr.9:137034800 on build GRCh38
• Cytoband: 9q34.3

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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C9orf139	NM_207511.2	3	1833	NP_997394.1
	XM_017014717.1	3	798	XP_016870206.1
	AK093587.1	2	202	BAC04202.1
	AK124899.1	3	1833	BAC85986.1
	BC132809.1	2	607
	BC136839.1	2	607

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	PRR31 TMEM210 C9orf139 LRRC26 FUT7 MIR3621 PTGDS LCNL1 CLIC3 ENTPD2 SAPCD2 DPP7 GRIN1 ABCA2 MAN1B1-AS1 NPDC1 UAP1L1 MAN1B1 LOC101930307 C9orf142
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	RABL6 TPRN FBXW5 SLC34A3 CCDC183 GRIN1 MIR4479 C8G CYSRT1 MAN1B1-AS1 TOR4A MAN1B1 PHPT1 LOC101930307 MIR7114 RNF208 C9orf139 LRRC26 TUBB4B NELFB ENTPD2 RNF224 ANAPC2 TRAF2 CCDC183-AS1 UAP1L1 C9orf172 MAMDC4 C9orf142 C9orf173-AS1 NOXA1 TMEM210 FUT7 MIR4292 MIR3621 LCNL1 NRARP STPG3 EXD3 PRR31 TMEM203 NDOR1 SSNA1 PNPLA7 NSMF LCN12 PTGDS CLIC3 EDF1 SAPCD2 DPP7 ENTPD8 ABCA2 FAM166A NPDC1
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	PRR31 C9orf139 FUT7 LCN12 PTGDS LCNL1 CLIC3 ENTPD2 SAPCD2 DPP7 C8G ABCA2 MAN1B1-AS1 NPDC1 UAP1L1 MAN1B1 LOC101930307 C9orf142
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	MIR126 RABL6 TMEM141 SNHG7 LCN8 HSPC324 FBXW5 EGFL7 CCDC183 PMPCA LCN6 GRIN1 NOTCH1 MIR4479 C8G MAN1B1-AS1 FAM69B AGPAT2 MAN1B1 PHPT1 LOC101930307 LOC100128593 C9orf139 LRRC26 MIR6722 CARD9 ENTPD2 TRAF2 CCDC183-AS1 LCN10 INPP5E UAP1L1 C9orf172 MAMDC4 C9orf142 LINC01451 TMEM210 MIR4673 FUT7 MIR4292 MIR3621 LCNL1 SEC16A SNAPC4 SNORA17B SDCCAG3 PRR31 SNORA17A MIR4674 LCN12 PTGDS CLIC3 EDF1 SAPCD2 DPP7 NALT1 ABCA2 DNLZ NPDC1 LCN15 C9orf163
esv2761561	Chr.9:137030185 - 137191593 on Build GRCh38	Gain	SSNA1 TMEM210 C9orf139 LRRC26 FUT7 MIR3621 ENTPD2 SAPCD2 DPP7 GRIN1 MAN1B1-AS1 ANAPC2 NPDC1 UAP1L1 MAN1B1 LOC101930307
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	C9orf139 ABCA2 NPDC1 FUT7 ENTPD2
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	MIR126 RABL6 TPRN TMEM141 SNHG7 LCN8 HSPC324 FBXW5 SLC34A3 EGFL7 CCDC183 LCN6 GRIN1 MIR4479 C8G CYSRT1 MAN1B1-AS1 FAM69B TOR4A AGPAT2 MAN1B1 PHPT1 LOC101930307 LOC100128593 RNF208 C9orf139 LRRC26 TUBB4B MIR6722 NELFB ENTPD2 RNF224 ANAPC2 TRAF2 CCDC183-AS1 LCN10 UAP1L1 C9orf172 MAMDC4 C9orf142 LINC01451 C9orf173-AS1 TMEM210 FUT7 MIR4292 MIR3621 LCNL1 NRARP SNORA17B STPG3 EXD3 PRR31 TMEM203 NDOR1 SSNA1 SNORA17A LCN12 PTGDS CLIC3 EDF1 SAPCD2 DPP7 ABCA2 FAM166A NPDC1 LCN15

More Information

• Set Membership: Intragenic, Exonic, DGV Variation