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

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