Hs00499179_cn

• Gene Symbol: C9orf139
• Assay Reference Genome Location: Chr.9:137030773 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 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 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FUT7	NM_004479.3	2	1815	NP_004470.1
	AK313124.1	2	1449
	BC074746.2	2	991	AAH74746.2
	BC086312.1	2	1815	AAH86312.1
	U08112.1	2	1103	AAA56869.1
	U11282.1	2	1103	AAA20468.1
	X78031.1	2	1088	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	FUT7 DPP7 MAN1B1-AS1 GRIN1 ENTPD2 ABCA2 SAPCD2 CLIC3 C9orf139 LOC101930307 MAN1B1 LRRC26 UAP1L1 LCNL1 MIR3621 C9orf142 TMEM210 PTGDS NPDC1 PRR31
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	DPP7 STPG3 FAM166A RNF208 NDOR1 ENTPD8 EDF1 TUBB4B CCDC183-AS1 FBXW5 CYSRT1 UAP1L1 TMEM210 PNPLA7 NPDC1 NOXA1 PRR31 C9orf172 PHPT1 MIR7114 MAMDC4 SSNA1 MIR4479 RABL6 C9orf139 MAN1B1 TOR4A LRRC26 MIR4292 LCNL1 MIR3621 PTGDS FUT7 NRARP LCN12 RNF224 MAN1B1-AS1 GRIN1 TMEM203 NSMF TRAF2 EXD3 LOC101930307 NELFB C9orf142 TPRN SLC34A3 ANAPC2 ENTPD2 C9orf173-AS1 ABCA2 SAPCD2 CLIC3 CCDC183 C8G
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	FUT7 DPP7 LCN12 MAN1B1-AS1 ENTPD2 ABCA2 SAPCD2 CLIC3 C9orf139 C8G LOC101930307 MAN1B1 UAP1L1 LCNL1 C9orf142 PTGDS NPDC1 PRR31
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	INPP5E DPP7 AGPAT2 SNHG7 TMEM141 EDF1 LOC100128593 CCDC183-AS1 FBXW5 UAP1L1 TMEM210 NPDC1 SNORA17A PRR31 C9orf172 HSPC324 NALT1 PHPT1 MAMDC4 MIR4479 RABL6 C9orf139 MAN1B1 SEC16A LRRC26 SNAPC4 MIR4292 LCNL1 MIR3621 PTGDS FUT7 C9orf163 SDCCAG3 LINC01451 LCN12 MAN1B1-AS1 FAM69B GRIN1 NOTCH1 TRAF2 SNORA17B LCN10 LOC101930307 LCN6 C9orf142 LCN15 MIR4673 DNLZ PMPCA ENTPD2 LCN8 ABCA2 EGFL7 MIR4674 SAPCD2 CLIC3 CCDC183 C8G CARD9 MIR126 MIR6722
esv2761561	Chr.9:137030185 - 137191593 on Build GRCh38	Gain	FUT7 DPP7 MAN1B1-AS1 SSNA1 GRIN1 ANAPC2 ENTPD2 SAPCD2 C9orf139 LOC101930307 MAN1B1 LRRC26 UAP1L1 MIR3621 TMEM210 NPDC1
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	DPP7 STPG3 FAM166A AGPAT2 RNF208 NDOR1 SNHG7 TMEM141 EDF1 LOC100128593 TUBB4B CCDC183-AS1 FBXW5 CYSRT1 UAP1L1 TMEM210 NPDC1 SNORA17A PRR31 C9orf172 HSPC324 PHPT1 MAMDC4 SSNA1 MIR4479 RABL6 C9orf139 MAN1B1 TOR4A LRRC26 MIR4292 LCNL1 MIR3621 PTGDS FUT7 LINC01451 NRARP LCN12 RNF224 MAN1B1-AS1 FAM69B GRIN1 TMEM203 TRAF2 EXD3 SNORA17B LCN10 LOC101930307 NELFB LCN6 C9orf142 LCN15 TPRN SLC34A3 ANAPC2 ENTPD2 C9orf173-AS1 LCN8 ABCA2 EGFL7 SAPCD2 CLIC3 CCDC183 C8G MIR126 MIR6722
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	FUT7 C9orf139 ENTPD2 ABCA2 NPDC1

More Information

• Set Membership: Intragenic, Exonic, Intronic, 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