Hs03020587_cn

• Gene Symbol: C9orf139
• Assay Reference Genome Location: Chr.9:137031357 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	1231	NP_004470.1
	AK313124.1	2	865
	BC074746.2	2	407	AAH74746.2
	BC086312.1	2	1231	AAH86312.1
	U08112.1	2	519	AAA56869.1
	U11282.1	2	519	AAA20468.1
	X78031.1	2	504	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	ABCA2 NPDC1 UAP1L1 DPP7 GRIN1 MAN1B1-AS1 LOC101930307 TMEM210 C9orf139 MAN1B1 CLIC3 ENTPD2 MIR3621 FUT7 LCNL1 C9orf142 PRR31 SAPCD2 PTGDS LRRC26
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	ABCA2 EXD3 EDF1 PHPT1 NRARP TRAF2 LOC101930307 FBXW5 MAN1B1 ENTPD2 CCDC183 RNF224 LRRC26 SSNA1 CYSRT1 CCDC183-AS1 DPP7 MAN1B1-AS1 C8G TMEM210 MIR4479 TOR4A LCN12 SLC34A3 FUT7 TUBB4B PNPLA7 C9orf173-AS1 ENTPD8 MIR4292 NPDC1 GRIN1 NSMF MIR7114 TMEM203 C9orf139 TPRN CLIC3 MIR3621 RNF208 NDOR1 C9orf142 PRR31 PTGDS STPG3 NOXA1 UAP1L1 MAMDC4 FAM166A RABL6 C9orf172 LCNL1 NELFB SAPCD2 ANAPC2
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	ABCA2 NPDC1 UAP1L1 DPP7 MAN1B1-AS1 C8G LOC101930307 C9orf139 MAN1B1 LCN12 CLIC3 ENTPD2 FUT7 LCNL1 C9orf142 PRR31 SAPCD2 PTGDS
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	C9orf163 ABCA2 TMEM141 EDF1 LINC01451 PHPT1 TRAF2 DNLZ LOC101930307 SNHG7 FBXW5 MAN1B1 ENTPD2 MIR4673 LCN8 CCDC183 PMPCA MIR4674 LRRC26 LOC100128593 CCDC183-AS1 SNORA17A EGFL7 DPP7 LCN6 MAN1B1-AS1 C8G TMEM210 MIR4479 INPP5E LCN12 FUT7 MIR4292 SDCCAG3 MIR6722 NPDC1 SNAPC4 SNORA17B GRIN1 NALT1 LCN15 CARD9 C9orf139 LCN10 AGPAT2 CLIC3 MIR3621 C9orf142 PRR31 PTGDS SEC16A HSPC324 UAP1L1 MAMDC4 FAM69B RABL6 NOTCH1 MIR126 C9orf172 LCNL1 SAPCD2
esv2761561	Chr.9:137030185 - 137191593 on Build GRCh38	Gain	SSNA1 NPDC1 UAP1L1 DPP7 GRIN1 MAN1B1-AS1 LOC101930307 TMEM210 C9orf139 MAN1B1 ENTPD2 MIR3621 FUT7 SAPCD2 LRRC26 ANAPC2
nsv616004	Chr.9:137014976 - 137053021 on Build GRCh38	Loss	C9orf139 ABCA2 NPDC1 ENTPD2 FUT7
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	ABCA2 TMEM141 EXD3 EDF1 LINC01451 PHPT1 NRARP TRAF2 LOC101930307 SNHG7 FBXW5 MAN1B1 ENTPD2 LCN8 CCDC183 RNF224 LRRC26 LOC100128593 SSNA1 CYSRT1 CCDC183-AS1 SNORA17A EGFL7 DPP7 LCN6 MAN1B1-AS1 C8G TMEM210 MIR4479 TOR4A LCN12 SLC34A3 FUT7 TUBB4B C9orf173-AS1 MIR4292 MIR6722 NPDC1 SNORA17B GRIN1 LCN15 TMEM203 C9orf139 LCN10 TPRN AGPAT2 CLIC3 MIR3621 RNF208 NDOR1 C9orf142 PRR31 PTGDS STPG3 HSPC324 UAP1L1 MAMDC4 FAM69B FAM166A RABL6 MIR126 C9orf172 LCNL1 NELFB SAPCD2 ANAPC2

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