Hs03705407_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136368150 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: Within Intron 7

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

More Information

Additional Information:

For this assay, SNP(s) [rs72775750] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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