Hs00231254_cn

• Gene Symbol: C8G
• Assay Reference Genome Location: Chr.9:136946669 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 5 - Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C8G	NM_000606.2			NP_000597.2
	AW663384.1
	BC113624.1
	BC113626.1
	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	TMEM141 PHPT1 EDF1 MAMDC4 PTGDS FBXW5 LCN15 ABCA2 C9orf142 C9orf172 TRAF2 MIR6722 MIR4292 LOC100128593 CCDC183-AS1 RABL6 LCN6 LCN10 LCN8 CLIC3 MIR4479 PRR31 LCN12 C8G CCDC183 LCNL1
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	ENTPD2 FAM166A EDF1 LRRC26 ABCA2 C9orf142 MAN1B1 MIR4292 EXD3 CCDC183-AS1 RABL6 DPP7 MIR7114 MIR4479 NPDC1 TMEM203 NELFB PRR31 ENTPD8 TPRN RNF208 SSNA1 CCDC183 LOC101930307 TOR4A PHPT1 TMEM210 FUT7 PNPLA7 MAMDC4 NRARP MIR3621 STPG3 PTGDS FBXW5 NOXA1 NSMF UAP1L1 RNF224 C9orf172 TRAF2 C9orf173-AS1 NDOR1 MAN1B1-AS1 CLIC3 GRIN1 LCN12 ANAPC2 TUBB4B C8G SLC34A3 C9orf139 CYSRT1 SAPCD2 LCNL1
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	LOC101930307 DPP7 ENTPD2 MAN1B1-AS1 FUT7 CLIC3 NPDC1 PTGDS PRR31 LCN12 ABCA2 C9orf142 UAP1L1 MAN1B1 C8G C9orf139 SAPCD2 LCNL1
nsv615987	Chr.9:136939743 - 136947810 on Build GRCh38	Loss	C8G FBXW5
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	AGPAT2 ENTPD2 EDF1 NALT1 LRRC26 ABCA2 C9orf142 MAN1B1 FAM69B LINC01451 MIR4292 LOC100128593 CCDC183-AS1 RABL6 HSPC324 DPP7 CARD9 LCN6 LCN8 C9orf163 MIR4479 NPDC1 PRR31 CCDC183 LOC101930307 TMEM141 SNHG7 SNAPC4 PHPT1 TMEM210 FUT7 MAMDC4 EGFL7 MIR3621 PTGDS FBXW5 INPP5E LCN15 MIR4674 UAP1L1 C9orf172 TRAF2 MIR6722 MIR4673 DNLZ SEC16A MIR126 PMPCA LCN10 MAN1B1-AS1 CLIC3 GRIN1 SNORA17A SDCCAG3 LCN12 NOTCH1 SNORA17B C8G C9orf139 SAPCD2 LCNL1
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	AGPAT2 ENTPD2 FAM166A EDF1 LRRC26 ABCA2 C9orf142 MAN1B1 FAM69B LINC01451 MIR4292 LOC100128593 EXD3 CCDC183-AS1 RABL6 HSPC324 DPP7 LCN6 LCN8 MIR4479 NPDC1 TMEM203 NELFB PRR31 TPRN RNF208 SSNA1 CCDC183 LOC101930307 TMEM141 SNHG7 TOR4A PHPT1 TMEM210 FUT7 MAMDC4 NRARP EGFL7 MIR3621 STPG3 PTGDS FBXW5 LCN15 UAP1L1 RNF224 C9orf172 TRAF2 MIR6722 C9orf173-AS1 MIR126 NDOR1 LCN10 MAN1B1-AS1 CLIC3 GRIN1 SNORA17A LCN12 ANAPC2 SNORA17B TUBB4B C8G SLC34A3 C9orf139 CYSRT1 SAPCD2 LCNL1

More Information

• Set Membership: Intragenic, Intronic, 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