Hs00427145_cn

• Gene Symbol: C8G
• Assay Reference Genome Location: Chr.9:136945652 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 1 - Exon 2

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

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