Hs01275459_cn

• Gene Symbol: C8G
• Assay Reference Genome Location: Chr.9:136946512 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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C8G	NM_000606.2	5	577	NP_000597.2
	AW663384.1	3	312
	BC113624.1	5	552
	BC113626.1	5	552
	BX282392.1	4	315
	M17263.1	5	528	AAA51888.1
	M17999.1	5	563	AAA51863.1
	X06465.1	5	563	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	MIR6722 RABL6 FBXW5 LCN12 C8G ABCA2 CLIC3 CCDC183 PTGDS LOC100128593 TMEM141 EDF1 TRAF2 LCN15 CCDC183-AS1 LCN10 C9orf142 PHPT1 PRR31 LCN6 MIR4479 LCN8 MIR4292 LCNL1 MAMDC4 C9orf172
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	RABL6 LCN12 CCDC183 TPRN PTGDS NPDC1 TUBB4B TRAF2 GRIN1 MAN1B1 CCDC183-AS1 FAM166A C9orf139 ENTPD2 PRR31 TMEM210 SAPCD2 CYSRT1 MIR4479 NOXA1 LRRC26 EXD3 MIR4292 C9orf172 MIR7114 MAN1B1-AS1 STPG3 ANAPC2 FBXW5 TMEM203 C8G ABCA2 NRARP CLIC3 NELFB TOR4A NDOR1 NSMF EDF1 UAP1L1 MIR3621 SSNA1 LOC101930307 C9orf142 ENTPD8 DPP7 PHPT1 PNPLA7 FUT7 RNF224 RNF208 SLC34A3 C9orf173-AS1 LCNL1 MAMDC4
nsv951206	Chr.9:136944849 - 137114548 on Build GRCh38	Deletion	LOC101930307 C9orf142 ENTPD2 LCN12 DPP7 C8G ABCA2 PRR31 CLIC3 FUT7 PTGDS SAPCD2 NPDC1 LCNL1 UAP1L1 MAN1B1-AS1 MAN1B1 C9orf139
nsv615987	Chr.9:136939743 - 136947810 on Build GRCh38	Loss	FBXW5 C8G
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	MIR6722 RABL6 HSPC324 LCN12 MIR4674 CCDC183 PTGDS NPDC1 SNORA17A TMEM141 NALT1 TRAF2 CARD9 GRIN1 MAN1B1 CCDC183-AS1 C9orf139 DNLZ SNHG7 LCN10 ENTPD2 PRR31 TMEM210 SAPCD2 MIR4479 LCN8 LRRC26 PMPCA MIR4292 C9orf172 MAN1B1-AS1 SNORA17B FBXW5 LINC01451 C8G ABCA2 CLIC3 MIR4673 LOC100128593 EDF1 SEC16A UAP1L1 LCN15 SDCCAG3 MIR3621 FAM69B LOC101930307 C9orf142 NOTCH1 INPP5E DPP7 PHPT1 LCN6 FUT7 MIR126 AGPAT2 LCNL1 MAMDC4 SNAPC4 EGFL7 C9orf163
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	MIR6722 RABL6 HSPC324 LCN12 CCDC183 TPRN PTGDS NPDC1 SNORA17A TMEM141 TUBB4B TRAF2 GRIN1 MAN1B1 CCDC183-AS1 FAM166A C9orf139 SNHG7 LCN10 ENTPD2 PRR31 TMEM210 SAPCD2 CYSRT1 MIR4479 LCN8 LRRC26 EXD3 MIR4292 C9orf172 MAN1B1-AS1 SNORA17B STPG3 ANAPC2 FBXW5 LINC01451 TMEM203 C8G ABCA2 NRARP CLIC3 NELFB TOR4A NDOR1 LOC100128593 EDF1 UAP1L1 LCN15 MIR3621 SSNA1 FAM69B LOC101930307 C9orf142 DPP7 PHPT1 LCN6 FUT7 RNF224 RNF208 SLC34A3 MIR126 AGPAT2 C9orf173-AS1 LCNL1 MAMDC4 EGFL7

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