Hs00889607_cn

• Gene Symbol: C8G
• Assay Reference Genome Location: Chr.9:136945932 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 733
• Gene Name: complement component 8, gamma polypeptide
• Gene Aliases: C8C
• Location: Chr.9:136944870-136946981 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C8G	NM_000606.2			NP_000597.2
	BC113624.1
	BC113626.1
	BM852158.1
	BX282392.1
	M17263.1			AAA51888.1
	M17999.1			AAA51863.1
	X06465.1			CAA29773.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv818738	Chr.9:136740043 - 137009585 on Build GRCh38	Gain	LCN8 PRR31 ABCA2 LCN12 EDF1 MAMDC4 LCN15 PHPT1 CLIC3 MIR4292 TRAF2 CCDC183 LCN6 CCDC183-AS1 PTGDS LCNL1 RABL6 LCN10 TMEM141 FBXW5 C9orf142 MIR4479 C8G MIR6722 C9orf172 LOC100128593
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	ENTPD2 LOC101930307 SAPCD2 RNF224 NELFB PRR31 UAP1L1 MAN1B1 FUT7 SSNA1 GRIN1 MIR4292 CCDC183-AS1 PTGDS RABL6 NSMF DPP7 TMEM210 ANAPC2 C9orf142 MIR4479 TUBB4B RNF208 ABCA2 TPRN LCN12 EDF1 MAMDC4 CYSRT1 PHPT1 SLC34A3 FAM166A CLIC3 TRAF2 CCDC183 C9orf173-AS1 PNPLA7 EXD3 LCNL1 LRRC26 MAN1B1-AS1 NOXA1 NRARP TOR4A FBXW5 TMEM203 NPDC1 MIR3621 C8G C9orf139 MIR7114 C9orf172 STPG3 NDOR1 ENTPD8
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	ENTPD2 LOC101930307 SAPCD2 DPP7 PRR31 ABCA2 UAP1L1 MAN1B1 NPDC1 C9orf142 LCN12 FUT7 C8G C9orf139 CLIC3 PTGDS LCNL1 MAN1B1-AS1
nsv615987	Chr.9:136939743 - 136947810 on Build GRCh38	Loss	C8G FBXW5
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	LCN8 ENTPD2 LOC101930307 MIR4674 SAPCD2 PRR31 CARD9 UAP1L1 MAN1B1 SNAPC4 FUT7 GRIN1 MIR4292 SNORA17B EGFL7 CCDC183-AS1 PTGDS RABL6 AGPAT2 HSPC324 DPP7 TMEM210 C9orf142 NALT1 MIR4479 MIR4673 DNLZ ABCA2 PMPCA LCN12 EDF1 MAMDC4 LCN15 PHPT1 CLIC3 C9orf163 LINC01451 TRAF2 CCDC183 LCN6 LCNL1 LRRC26 MAN1B1-AS1 LCN10 TMEM141 FBXW5 NPDC1 INPP5E MIR3621 SNHG7 SNORA17A SDCCAG3 NOTCH1 C8G MIR6722 C9orf139 C9orf172 FAM69B LOC100128593 MIR126 SEC16A
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	LCN8 ENTPD2 LOC101930307 SAPCD2 RNF224 NELFB PRR31 UAP1L1 MAN1B1 FUT7 SSNA1 GRIN1 MIR4292 SNORA17B EGFL7 CCDC183-AS1 PTGDS RABL6 AGPAT2 HSPC324 DPP7 TMEM210 ANAPC2 C9orf142 MIR4479 TUBB4B RNF208 ABCA2 TPRN LCN12 EDF1 MAMDC4 LCN15 CYSRT1 PHPT1 SLC34A3 FAM166A CLIC3 LINC01451 TRAF2 CCDC183 C9orf173-AS1 LCN6 EXD3 LCNL1 LRRC26 MAN1B1-AS1 LCN10 NRARP TMEM141 TOR4A FBXW5 TMEM203 NPDC1 MIR3621 SNHG7 SNORA17A C8G MIR6722 C9orf139 C9orf172 FAM69B STPG3 LOC100128593 MIR126 NDOR1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

complement activation, alternative pathway
complement activation, classical pathway
cytolysis
regulation of complement activation

Function(s)

complement binding
retinol binding
protein complex binding