Hs01628080_cn

• Gene Symbol: C9orf139
• Assay Reference Genome Location: Chr.9:137032122 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C9orf139	NM_207511.2	2	573	NP_997394.1
	XM_017014717.1			XP_016870206.1
	AK124899.1	2	573	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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FUT7	NM_004479.3	1	719	NP_004470.1
	AK313124.1	1	353
	BC086312.1	1	719	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	CLIC3 C9orf142 NPDC1 SAPCD2 ENTPD2 DPP7 PRR31 UAP1L1 MAN1B1 LRRC26 PTGDS GRIN1 MIR3621 LCNL1 FUT7 TMEM210 LOC101930307 C9orf139 MAN1B1-AS1 ABCA2
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	C8G PHPT1 PNPLA7 CLIC3 NPDC1 DPP7 CCDC183 TOR4A UAP1L1 TUBB4B RNF224 PTGDS RNF208 GRIN1 STPG3 LCNL1 NRARP CYSRT1 NDOR1 C9orf142 ENTPD2 PRR31 MAN1B1 LRRC26 MIR3621 TRAF2 C9orf173-AS1 EXD3 MAMDC4 NELFB ENTPD8 NSMF TPRN MIR4479 SAPCD2 CCDC183-AS1 NOXA1 EDF1 C9orf172 MIR7114 LOC101930307 ANAPC2 C9orf139 SLC34A3 FAM166A RABL6 FBXW5 LCN12 MIR4292 FUT7 TMEM203 TMEM210 MAN1B1-AS1 SSNA1 ABCA2
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	C8G CLIC3 C9orf142 NPDC1 SAPCD2 ENTPD2 DPP7 PRR31 UAP1L1 MAN1B1 LCN12 PTGDS LCNL1 FUT7 LOC101930307 C9orf139 MAN1B1-AS1 ABCA2
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	C8G PHPT1 CLIC3 NPDC1 SNHG7 DPP7 C9orf163 CCDC183 SNORA17A UAP1L1 CARD9 MIR6722 PTGDS GRIN1 LINC01451 LCNL1 HSPC324 PMPCA C9orf142 ENTPD2 AGPAT2 SDCCAG3 PRR31 LOC100128593 MAN1B1 MIR4673 LRRC26 MIR3621 NALT1 TRAF2 LCN6 MAMDC4 TMEM141 MIR4479 SAPCD2 LCN8 CCDC183-AS1 SNORA17B SEC16A LCN10 MIR4674 EDF1 C9orf172 DNLZ LOC101930307 C9orf139 SNAPC4 MIR126 LCN15 FAM69B RABL6 FBXW5 NOTCH1 EGFL7 LCN12 MIR4292 FUT7 TMEM210 INPP5E MAN1B1-AS1 ABCA2
esv2761561	Chr.9:137030185 - 137191593 on Build GRCh38	Gain	NPDC1 SAPCD2 ENTPD2 DPP7 UAP1L1 MAN1B1 LRRC26 GRIN1 MIR3621 FUT7 TMEM210 LOC101930307 ANAPC2 C9orf139 MAN1B1-AS1 SSNA1
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	C8G PHPT1 CLIC3 NPDC1 SNHG7 DPP7 CCDC183 TOR4A SNORA17A UAP1L1 TUBB4B RNF224 MIR6722 PTGDS RNF208 GRIN1 STPG3 LINC01451 LCNL1 NRARP CYSRT1 NDOR1 HSPC324 C9orf142 ENTPD2 AGPAT2 PRR31 LOC100128593 MAN1B1 LRRC26 MIR3621 TRAF2 LCN6 C9orf173-AS1 EXD3 MAMDC4 TMEM141 NELFB TPRN MIR4479 SAPCD2 LCN8 CCDC183-AS1 SNORA17B LCN10 EDF1 C9orf172 LOC101930307 ANAPC2 C9orf139 SLC34A3 MIR126 LCN15 FAM166A FAM69B RABL6 FBXW5 EGFL7 LCN12 MIR4292 FUT7 TMEM203 TMEM210 MAN1B1-AS1 SSNA1 ABCA2
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	NPDC1 ENTPD2 FUT7 C9orf139 ABCA2

More Information

• Set Membership: Intragenic, 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