Hs01255621_cn

• Gene Symbol: C8G
• Assay Reference Genome Location: Chr.9:136945287 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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C8G	NM_000606.2	1	42	NP_000597.2
	BC113624.1
	BC113626.1
	BM852158.1	1	42
	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	LCNL1 MIR4292 RABL6 C9orf142 MIR6722 MAMDC4 CCDC183 LCN15 PTGDS C8G LCN10 C9orf172 PRR31 FBXW5 PHPT1 TMEM141 MIR4479 LCN6 LCN8 CLIC3 TRAF2 ABCA2 EDF1 CCDC183-AS1 LCN12 LOC100128593
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	TUBB4B RABL6 C9orf142 MAMDC4 CCDC183 TMEM203 EXD3 MAN1B1-AS1 PTGDS C8G NSMF C9orf172 FBXW5 LOC101930307 CLIC3 ABCA2 EDF1 ENTPD8 NOXA1 NPDC1 CCDC183-AS1 SSNA1 RNF224 NELFB NRARP LCNL1 NDOR1 MIR4292 DPP7 CYSRT1 MAN1B1 ANAPC2 TPRN LRRC26 TOR4A UAP1L1 RNF208 TMEM210 SLC34A3 PNPLA7 FUT7 PRR31 PHPT1 MIR4479 STPG3 MIR3621 SAPCD2 FAM166A MIR7114 C9orf173-AS1 TRAF2 LCN12 GRIN1 ENTPD2 C9orf139
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	PRR31 LCNL1 DPP7 MAN1B1 C9orf142 LOC101930307 SAPCD2 CLIC3 MAN1B1-AS1 UAP1L1 ABCA2 PTGDS NPDC1 C8G LCN12 FUT7 ENTPD2 C9orf139
nsv615987	Chr.9:136939743 - 136947810 on Build GRCh38	Loss	FBXW5 C8G
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	NOTCH1 RABL6 C9orf142 MIR6722 MAMDC4 CCDC183 HSPC324 MAN1B1-AS1 PTGDS C8G LCN10 AGPAT2 SNORA17A C9orf172 FBXW5 MIR4674 LOC101930307 LCN6 LCN8 CLIC3 ABCA2 EDF1 SNORA17B NPDC1 CCDC183-AS1 C9orf163 DNLZ LINC01451 LCNL1 MIR4673 MIR4292 DPP7 MAN1B1 FAM69B EGFL7 LRRC26 INPP5E SEC16A UAP1L1 CARD9 LCN15 NALT1 TMEM210 FUT7 PMPCA PRR31 PHPT1 TMEM141 MIR4479 SNHG7 SNAPC4 MIR3621 SAPCD2 SDCCAG3 TRAF2 LCN12 GRIN1 ENTPD2 MIR126 C9orf139 LOC100128593
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	TUBB4B RABL6 C9orf142 MIR6722 MAMDC4 CCDC183 TMEM203 HSPC324 EXD3 MAN1B1-AS1 PTGDS C8G LCN10 AGPAT2 SNORA17A C9orf172 FBXW5 LOC101930307 LCN6 LCN8 CLIC3 ABCA2 EDF1 SNORA17B NPDC1 CCDC183-AS1 SSNA1 RNF224 LINC01451 NELFB NRARP LCNL1 NDOR1 MIR4292 DPP7 CYSRT1 MAN1B1 FAM69B EGFL7 ANAPC2 TPRN LRRC26 TOR4A UAP1L1 LCN15 RNF208 TMEM210 SLC34A3 FUT7 PRR31 PHPT1 TMEM141 MIR4479 STPG3 SNHG7 MIR3621 SAPCD2 FAM166A C9orf173-AS1 TRAF2 LCN12 GRIN1 ENTPD2 MIR126 C9orf139 LOC100128593

More Information

• Set Membership: Intragenic, 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