Hs02685413_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136364350 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 Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CARD9	NM_052813.4	13	1729	NP_434700.2
	NM_052814.3			NP_434701.1
	AF311287.1	13	1690	AAG28790.1
	AK024001.1	13	1857	BAB14766.1
	AK127481.1	5	4184
	AK292081.1	13	1681
	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	DNLZ PMPCA SEC16A GPSM1 SDCCAG3 CARD9 SNAPC4 INPP5E
nsv6764	Chr.9:136342675 - 136387661 on Build GRCh38	Deletion	DNLZ GPSM1 CARD9 SNAPC4
nsv1046074	Chr.9:136228197 - 136393924 on Build GRCh38	Gain	ESP33 DNLZ LOC101928722 QSOX2 GPSM1 CCDC187 CARD9 DKFZP434A062 SNAPC4
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	MIR4673 LCN8 LOC100128593 FBXW5 PHPT1 C9orf163 RABL6 NPDC1 TMEM141 FUT7 MIR4674 DNLZ FAM69B EGFL7 SNHG7 NOTCH1 PTGDS MIR4479 UAP1L1 MIR3621 AGPAT2 TRAF2 ABCA2 PMPCA DPP7 LCN12 INPP5E LRRC26 GRIN1 C9orf142 HSPC324 SDCCAG3 MIR126 MAMDC4 EDF1 MAN1B1-AS1 LCN6 LCNL1 MAN1B1 SNAPC4 CCDC183 NALT1 CARD9 SAPCD2 TMEM210 C9orf139 MIR6722 MIR4292 ENTPD2 C9orf172 LOC101930307 PRR31 SNORA17A LINC01451 SEC16A C8G CCDC183-AS1 LCN10 CLIC3 SNORA17B LCN15
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	MIR4673 MAMDC4 LCN8 LOC100128593 EDF1 PHPT1 C9orf163 RABL6 LCN6 SNAPC4 TMEM141 MIR4674 DNLZ FAM69B CCDC183 EGFL7 NALT1 SNHG7 NOTCH1 MIR4479 AGPAT2 CARD9 TRAF2 PMPCA GPSM1 MIR6722 MIR4292 C9orf172 INPP5E SNORA17A LINC01451 SEC16A CCDC183-AS1 LCN10 HSPC324 SDCCAG3 MIR126 SNORA17B LCN15
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	ESP33 PMPCA UBAC1 LOC101928722 GPSM1 C9orf163 LOC107987142 SNAPC4 INPP5E DNLZ SEC16A NOTCH1 QSOX2 CCDC187 LOC105376323 C9orf69 SDCCAG3 CARD9 DKFZP434A062 LHX3 CAMSAP1 NACC2
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	MIR4673 KCNT1 UBAC1 LOC101928722 C9orf163 LOC107987142 SNAPC4 MIR4674 DNLZ NALT1 NOTCH1 QSOX2 CCDC187 LOC105376323 CARD9 DKFZP434A062 LHX3 ESP33 PMPCA GPSM1 INPP5E SEC16A C9orf69 SDCCAG3 CAMSAP1 NACC2

More Information

• Set Membership: Intragenic, 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