Hs02892715_cn

• Gene Symbol: C9orf139
• Assay Reference Genome Location: Chr.9:137032015 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: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C9orf139	NM_207511.2			NP_997394.1
	XM_017014717.1			XP_016870206.1
	AK124899.1			BAC85986.1

Target Gene Details

• Entrez Gene ID: 2529
• Gene Name: fucosyltransferase 7
• Gene Aliases: FucT-VII
• Location: Chr.9:137030174-137032840 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FUT7	NM_004479.3			NP_004470.1
	AK313124.1
	BC074746.2			AAH74746.2
	BC086312.1			AAH86312.1
	U08112.1			AAA56869.1
	U11282.1			AAA20468.1
	X78031.1			CAA54962.1

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

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
leukocyte migration involved in immune response
protein glycosylation
protein N-linked glycosylation
fucosylation
L-fucose catabolic process

Function(s)

fucosyltransferase activity
alpha-(1->3)-fucosyltransferase activity