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

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