Hs01892800_cn

• Gene Symbol: C9orf139
• Assay Reference Genome Location: Chr.9:137031597 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	991	NP_004470.1
	AK313124.1	2	625
	BC074746.2	2	167	AAH74746.2
	BC086312.1	2	991	AAH86312.1
	U08112.1	2	279	AAA56869.1
	U11282.1	2	279	AAA20468.1
	X78031.1	2	264	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	SAPCD2 MIR3621 PRR31 PTGDS MAN1B1 C9orf139 LCNL1 C9orf142 CLIC3 UAP1L1 ABCA2 ENTPD2 TMEM210 LRRC26 MAN1B1-AS1 NPDC1 DPP7 LOC101930307 FUT7 GRIN1
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	TPRN MIR3621 MAMDC4 TRAF2 PNPLA7 NOXA1 C9orf172 SLC34A3 TOR4A MIR7114 ENTPD2 EDF1 LRRC26 MAN1B1-AS1 MIR4479 NELFB FUT7 GRIN1 PRR31 MIR4292 C8G C9orf139 LCNL1 RNF224 C9orf142 NDOR1 C9orf173-AS1 TMEM210 NPDC1 DPP7 ENTPD8 PTGDS PHPT1 ANAPC2 MAN1B1 SSNA1 UAP1L1 ABCA2 TUBB4B TMEM203 EXD3 STPG3 FAM166A SAPCD2 FBXW5 CLIC3 CCDC183-AS1 LCN12 CCDC183 RNF208 NRARP RABL6 LOC101930307 CYSRT1 NSMF
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	SAPCD2 PRR31 PTGDS C8G MAN1B1 C9orf139 LCNL1 C9orf142 CLIC3 LCN12 UAP1L1 ABCA2 ENTPD2 MAN1B1-AS1 NPDC1 DPP7 LOC101930307 FUT7
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	MIR3621 MAMDC4 NALT1 TRAF2 SNHG7 C9orf172 ENTPD2 EDF1 LRRC26 MAN1B1-AS1 EGFL7 MIR4479 MIR4673 FUT7 GRIN1 LCN6 PRR31 MIR4292 C8G MIR4674 C9orf139 LCNL1 C9orf142 LCN10 TMEM210 INPP5E NPDC1 MIR6722 DPP7 LOC100128593 NOTCH1 LINC01451 TMEM141 SEC16A CARD9 PTGDS PHPT1 MAN1B1 UAP1L1 ABCA2 SNAPC4 FAM69B AGPAT2 HSPC324 SAPCD2 LCN15 FBXW5 MIR126 CLIC3 DNLZ CCDC183-AS1 LCN12 CCDC183 SNORA17A RABL6 LCN8 PMPCA LOC101930307 SDCCAG3 SNORA17B C9orf163
esv2761561	Chr.9:137030185 - 137191593 on Build GRCh38	Gain	SAPCD2 MIR3621 ANAPC2 MAN1B1 C9orf139 SSNA1 UAP1L1 ENTPD2 TMEM210 LRRC26 MAN1B1-AS1 NPDC1 DPP7 LOC101930307 FUT7 GRIN1
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	TPRN MIR3621 MAMDC4 TRAF2 SNHG7 C9orf172 SLC34A3 TOR4A ENTPD2 EDF1 LRRC26 MAN1B1-AS1 EGFL7 MIR4479 NELFB FUT7 GRIN1 LCN6 PRR31 MIR4292 C8G C9orf139 LCNL1 RNF224 C9orf142 LCN10 NDOR1 C9orf173-AS1 TMEM210 NPDC1 MIR6722 DPP7 LOC100128593 LINC01451 TMEM141 PTGDS PHPT1 ANAPC2 MAN1B1 SSNA1 UAP1L1 ABCA2 TUBB4B TMEM203 FAM69B EXD3 STPG3 AGPAT2 FAM166A HSPC324 SAPCD2 LCN15 FBXW5 MIR126 CLIC3 CCDC183-AS1 LCN12 CCDC183 SNORA17A RNF208 NRARP RABL6 LCN8 LOC101930307 CYSRT1 SNORA17B
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	NPDC1 C9orf139 FUT7 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