Hs00169593_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136363969 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 - Exon 13

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
	BC008877.2			AAH08877.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv615962	Chr.9:136340055 - 136366634 on Build GRCh38	Loss	DNLZ GPSM1 CARD9
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	SNAPC4 PMPCA SDCCAG3 DNLZ GPSM1 CARD9 SEC16A INPP5E
nsv6764	Chr.9:136342675 - 136387661 on Build GRCh38	Deletion	SNAPC4 DNLZ GPSM1 CARD9
nsv1046074	Chr.9:136228197 - 136393924 on Build GRCh38	Gain	SNAPC4 LOC101928722 CCDC187 DNLZ GPSM1 CARD9 QSOX2 DKFZP434A062 ESP33
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	SNAPC4 CCDC183-AS1 MIR4674 SNORA17A CLIC3 MIR3621 PTGDS MIR6722 UAP1L1 LCNL1 PHPT1 MAN1B1 PMPCA DNLZ LCN8 AGPAT2 C9orf163 SNHG7 CARD9 NPDC1 C9orf142 MIR4479 MIR126 TMEM141 LRRC26 HSPC324 MAN1B1-AS1 ENTPD2 LCN10 MIR4292 C9orf172 MIR4673 C8G SAPCD2 RABL6 NOTCH1 C9orf139 EDF1 DPP7 PRR31 LCN6 FBXW5 SEC16A ABCA2 FUT7 GRIN1 NALT1 INPP5E CCDC183 EGFL7 LCN15 TMEM210 TRAF2 LOC101930307 SDCCAG3 LCN12 FAM69B LINC01451 LOC100128593 SNORA17B MAMDC4
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	SNAPC4 CCDC183-AS1 MIR4674 SNORA17A C9orf172 MIR6722 GPSM1 MIR4673 RABL6 NOTCH1 PHPT1 PMPCA DNLZ LCN8 EDF1 LCN6 SEC16A AGPAT2 C9orf163 SNHG7 NALT1 CARD9 INPP5E CCDC183 EGFL7 MIR4479 MIR126 TMEM141 LCN15 TRAF2 SDCCAG3 HSPC324 FAM69B LCN10 LINC01451 LOC100128593 SNORA17B MAMDC4 MIR4292
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	LOC105376323 SNAPC4 C9orf163 C9orf69 GPSM1 CARD9 QSOX2 LOC107987142 NOTCH1 INPP5E UBAC1 LHX3 LOC101928722 CCDC187 PMPCA SDCCAG3 DNLZ NACC2 DKFZP434A062 SEC16A ESP33 CAMSAP1
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	LOC105376323 SNAPC4 MIR4674 C9orf69 GPSM1 MIR4673 LOC107987142 NOTCH1 LOC101928722 CCDC187 PMPCA DNLZ SEC16A CAMSAP1 C9orf163 NALT1 CARD9 QSOX2 INPP5E UBAC1 LHX3 SDCCAG3 KCNT1 NACC2 DKFZP434A062 ESP33

More Information

• Set Membership: Intragenic, 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