Hs00715871_cn

• Gene Symbol: C9orf139
• Assay Reference Genome Location: Chr.9:137030419 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	2169	NP_004470.1
	BC086312.1	2	2169	AAH86312.1
	X78031.1	2	1442	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	LRRC26 FUT7 MAN1B1 PTGDS TMEM210 LOC101930307 ABCA2 PRR31 ENTPD2 LCNL1 MAN1B1-AS1 CLIC3 NPDC1 SAPCD2 UAP1L1 MIR3621 C9orf139 GRIN1 C9orf142 DPP7
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	MAMDC4 STPG3 TOR4A PRR31 ENTPD2 ENTPD8 RNF208 RABL6 TPRN NSMF LRRC26 NOXA1 FUT7 C9orf172 PHPT1 TMEM210 LOC101930307 NDOR1 CCDC183-AS1 ABCA2 RNF224 EXD3 SAPCD2 UAP1L1 MIR4292 MIR3621 C9orf139 MIR4479 LCN12 MAN1B1 PTGDS NELFB NRARP LCNL1 C8G SSNA1 NPDC1 CYSRT1 TMEM203 FBXW5 GRIN1 TRAF2 DPP7 ANAPC2 EDF1 C9orf173-AS1 MIR7114 PNPLA7 MAN1B1-AS1 CLIC3 TUBB4B FAM166A CCDC183 SLC34A3 C9orf142
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	FUT7 MAN1B1 PTGDS LOC101930307 ABCA2 PRR31 ENTPD2 LCNL1 MAN1B1-AS1 C8G CLIC3 NPDC1 SAPCD2 UAP1L1 C9orf139 C9orf142 DPP7 LCN12
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	LINC01451 MAMDC4 SNORA17B LCN15 LCN6 AGPAT2 PRR31 ENTPD2 DNLZ MIR126 SEC16A RABL6 SNAPC4 LRRC26 FAM69B FUT7 C9orf172 PHPT1 TMEM210 LOC101930307 CCDC183-AS1 LCN8 ABCA2 LOC100128593 SNHG7 SAPCD2 UAP1L1 MIR4292 MIR3621 C9orf139 MIR4673 EGFL7 SNORA17A MIR4674 CARD9 MIR4479 LCN12 NALT1 MAN1B1 PTGDS LCNL1 C8G C9orf163 NPDC1 NOTCH1 FBXW5 GRIN1 TRAF2 DPP7 PMPCA MIR6722 INPP5E EDF1 HSPC324 LCN10 MAN1B1-AS1 CLIC3 SDCCAG3 CCDC183 TMEM141 C9orf142
esv2761561	Chr.9:137030185 - 137191593 on Build GRCh38	Gain	LRRC26 FUT7 MAN1B1 ANAPC2 TMEM210 LOC101930307 ENTPD2 MAN1B1-AS1 SSNA1 NPDC1 SAPCD2 UAP1L1 MIR3621 C9orf139 GRIN1 DPP7
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	LINC01451 MAMDC4 STPG3 SNORA17B TOR4A LCN15 LCN6 AGPAT2 PRR31 ENTPD2 MIR126 RNF208 RABL6 TPRN LRRC26 FAM69B FUT7 C9orf172 PHPT1 TMEM210 LOC101930307 NDOR1 CCDC183-AS1 LCN8 ABCA2 RNF224 EXD3 LOC100128593 SNHG7 SAPCD2 UAP1L1 MIR4292 MIR3621 C9orf139 EGFL7 SNORA17A MIR4479 LCN12 MAN1B1 PTGDS NELFB NRARP LCNL1 C8G SSNA1 NPDC1 CYSRT1 TMEM203 FBXW5 GRIN1 TRAF2 DPP7 MIR6722 ANAPC2 EDF1 C9orf173-AS1 HSPC324 LCN10 MAN1B1-AS1 CLIC3 TUBB4B FAM166A CCDC183 TMEM141 SLC34A3 C9orf142
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	NPDC1 FUT7 C9orf139 ABCA2 ENTPD2

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