Hs00394012_cn

• Gene Symbol: C9orf139
• Assay Reference Genome Location: Chr.9:137030288 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	2300	NP_004470.1
	BC086312.1	2	2300	AAH86312.1
	X78031.1	2	1573	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	ENTPD2 SAPCD2 LRRC26 GRIN1 LCNL1 UAP1L1 LOC101930307 MIR3621 MAN1B1 C9orf139 ABCA2 PTGDS CLIC3 FUT7 MAN1B1-AS1 TMEM210 NPDC1 PRR31 C9orf142 DPP7
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	SAPCD2 PNPLA7 EXD3 UAP1L1 C9orf172 MAN1B1 MIR7114 C9orf139 NELFB SLC34A3 TMEM210 RABL6 TMEM203 NRARP PRR31 NDOR1 C9orf142 FAM166A NSMF TRAF2 ABCA2 EDF1 TPRN STPG3 TUBB4B RNF208 C9orf173-AS1 ENTPD2 ANAPC2 LRRC26 LCNL1 NOXA1 CCDC183-AS1 MIR4292 PTGDS TOR4A MAMDC4 CCDC183 SSNA1 DPP7 LCN12 ENTPD8 GRIN1 FBXW5 LOC101930307 MIR3621 RNF224 CLIC3 FUT7 MIR4479 PHPT1 MAN1B1-AS1 C8G NPDC1 CYSRT1
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	ENTPD2 SAPCD2 LCNL1 UAP1L1 LOC101930307 MAN1B1 C9orf139 ABCA2 PTGDS CLIC3 FUT7 MAN1B1-AS1 C8G NPDC1 PRR31 C9orf142 DPP7 LCN12
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	SAPCD2 SNORA17A UAP1L1 TMEM141 SNORA17B C9orf172 MAN1B1 PMPCA C9orf139 SNHG7 HSPC324 TMEM210 RABL6 PRR31 SNAPC4 C9orf142 LINC01451 LCN10 INPP5E TRAF2 FAM69B DNLZ NOTCH1 ABCA2 EDF1 LOC100128593 SDCCAG3 ENTPD2 LRRC26 MIR4673 LCNL1 MIR6722 CCDC183-AS1 CARD9 MIR4292 PTGDS LCN6 LCN8 AGPAT2 MAMDC4 SEC16A CCDC183 DPP7 LCN12 GRIN1 FBXW5 LOC101930307 MIR3621 LCN15 CLIC3 MIR126 FUT7 MIR4479 PHPT1 C9orf163 MAN1B1-AS1 NALT1 EGFL7 C8G NPDC1 MIR4674
esv2761561	Chr.9:137030185 - 137191593 on Build GRCh38	Gain	ENTPD2 SAPCD2 ANAPC2 LRRC26 GRIN1 UAP1L1 LOC101930307 MIR3621 MAN1B1 C9orf139 FUT7 MAN1B1-AS1 TMEM210 NPDC1 SSNA1 DPP7
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	SAPCD2 SNORA17A EXD3 UAP1L1 TMEM141 SNORA17B C9orf172 MAN1B1 C9orf139 SNHG7 HSPC324 NELFB SLC34A3 TMEM210 RABL6 TMEM203 NRARP PRR31 NDOR1 C9orf142 LINC01451 LCN10 FAM166A TRAF2 FAM69B ABCA2 EDF1 TPRN STPG3 LOC100128593 TUBB4B RNF208 C9orf173-AS1 ENTPD2 ANAPC2 LRRC26 LCNL1 MIR6722 CCDC183-AS1 MIR4292 PTGDS LCN6 LCN8 AGPAT2 TOR4A MAMDC4 CCDC183 SSNA1 DPP7 LCN12 GRIN1 FBXW5 LOC101930307 MIR3621 LCN15 RNF224 CLIC3 MIR126 FUT7 MIR4479 PHPT1 MAN1B1-AS1 EGFL7 C8G NPDC1 CYSRT1
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	ENTPD2 FUT7 NPDC1 C9orf139 ABCA2

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