Hs01470641_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136367238 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 64170
• Gene Name: caspase recruitment domain family member 9
• Gene Aliases: CANDF2, hCARD9
• Location: Chr.9:136363956-136373681 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CARD9	NM_052813.4			NP_434700.2
	NM_052814.3			NP_434701.1
	AF311287.1			AAG28790.1
	AK024001.1			BAB14766.1
	AK127481.1
	AK292081.1
	AK295647.1
	BC008877.2			AAH08877.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831760	Chr.9:136366430 - 136480358 on Build GRCh38	Loss	PMPCA SNAPC4 SDCCAG3 SEC16A CARD9 INPP5E
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	DNLZ GPSM1 PMPCA SNAPC4 SDCCAG3 SEC16A CARD9 INPP5E
nsv6764	Chr.9:136342675 - 136387661 on Build GRCh38	Deletion	DNLZ GPSM1 SNAPC4 CARD9
nsv1046074	Chr.9:136228197 - 136393924 on Build GRCh38	Gain	DNLZ GPSM1 QSOX2 CCDC187 SNAPC4 DKFZP434A062 ESP33 LOC101928722 CARD9
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	ABCA2 CCDC183 RABL6 EDF1 NALT1 LRRC26 C9orf172 SNORA17A LCN10 C9orf142 ENTPD2 HSPC324 C9orf163 EGFL7 PMPCA TRAF2 LCN12 PTGDS SAPCD2 MIR6722 SDCCAG3 MAN1B1 SNHG7 MIR4479 MIR3621 GRIN1 CARD9 LOC101930307 LINC01451 LCNL1 CLIC3 FAM69B TMEM141 MIR4673 NOTCH1 NPDC1 CCDC183-AS1 LOC100128593 DNLZ LCN6 UAP1L1 SNORA17B MIR126 LCN15 AGPAT2 FUT7 MIR4674 MAN1B1-AS1 MIR4292 DPP7 PRR31 LCN8 C8G FBXW5 SNAPC4 TMEM210 C9orf139 MAMDC4 PHPT1 SEC16A INPP5E
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	SNHG7 MIR4479 CCDC183 CARD9 LINC01451 RABL6 GPSM1 EDF1 FAM69B NALT1 C9orf172 TMEM141 MIR4673 NOTCH1 SNORA17A CCDC183-AS1 LOC100128593 LCN10 DNLZ LCN6 HSPC324 C9orf163 EGFL7 PMPCA SNORA17B MIR126 LCN15 AGPAT2 MIR4674 TRAF2 MIR4292 MIR6722 LCN8 SNAPC4 SDCCAG3 MAMDC4 PHPT1 SEC16A INPP5E
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	DNLZ QSOX2 NACC2 C9orf163 PMPCA UBAC1 LOC105376323 ESP33 LHX3 CARD9 GPSM1 CAMSAP1 CCDC187 SNAPC4 SDCCAG3 DKFZP434A062 C9orf69 NOTCH1 SEC16A LOC101928722 INPP5E LOC107987142
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	QSOX2 NACC2 UBAC1 KCNT1 LHX3 CARD9 GPSM1 NALT1 DKFZP434A062 MIR4673 C9orf69 NOTCH1 DNLZ C9orf163 PMPCA MIR4674 LOC105376323 ESP33 CAMSAP1 CCDC187 SNAPC4 SDCCAG3 SEC16A LOC101928722 INPP5E LOC107987142

More Information

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

Gene Ontology Categories:

Process(es)

stimulatory C-type lectin receptor signaling pathway
I-kappaB kinase/NF-kappaB signaling
response to fungus
response to peptidoglycan
response to muramyl dipeptide
positive regulation of interleukin-6 production
positive regulation of tumor necrosis factor production
positive regulation of stress-activated MAPK cascade
response to drug
regulation of tumor necrosis factor biosynthetic process
regulation of apoptotic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
response to exogenous dsRNA
regulation of interleukin-2 biosynthetic process
innate immune response
regulation of interleukin-6 biosynthetic process
positive regulation of JNK cascade
defense response to Gram-positive bacterium
defense response to virus

Function(s)

protein binding
protein homodimerization activity
CARD domain binding