Hs03724630_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136365672 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 10

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	4	2940
	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	INPP5E SNAPC4 DNLZ PMPCA GPSM1 SDCCAG3 CARD9 SEC16A
nsv6764	Chr.9:136342675 - 136387661 on Build GRCh38	Deletion	SNAPC4 DNLZ GPSM1 CARD9
nsv1046074	Chr.9:136228197 - 136393924 on Build GRCh38	Gain	ESP33 DKFZP434A062 QSOX2 SNAPC4 CCDC187 DNLZ GPSM1 CARD9 LOC101928722
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	C9orf172 TMEM141 LINC01451 LCN8 LCN12 DPP7 SDCCAG3 LCN15 CARD9 MAN1B1-AS1 C9orf163 MAN1B1 CLIC3 DNLZ UAP1L1 NOTCH1 MIR4479 MIR4292 EGFL7 SEC16A NPDC1 LCN10 SNORA17A MAMDC4 LCNL1 MIR126 PHPT1 MIR6722 LRRC26 HSPC324 MIR4674 C8G PRR31 NALT1 SNAPC4 SNORA17B C9orf142 SNHG7 MIR3621 MIR4673 AGPAT2 FUT7 LOC101930307 FBXW5 RABL6 ABCA2 CCDC183 GRIN1 SAPCD2 EDF1 PTGDS ENTPD2 CCDC183-AS1 INPP5E TMEM210 PMPCA LCN6 TRAF2 LOC100128593 FAM69B C9orf139
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	C9orf172 NALT1 TMEM141 SNAPC4 SNORA17B LINC01451 LCN8 SNHG7 MIR4673 SDCCAG3 AGPAT2 LCN15 CARD9 C9orf163 DNLZ RABL6 NOTCH1 CCDC183 MIR4479 MIR4292 EGFL7 SEC16A LCN10 EDF1 SNORA17A MAMDC4 CCDC183-AS1 MIR126 PHPT1 MIR6722 INPP5E HSPC324 MIR4674 PMPCA GPSM1 LCN6 TRAF2 LOC100128593 FAM69B
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	LOC107987142 CAMSAP1 SNAPC4 LOC105376323 SDCCAG3 LHX3 CARD9 ESP33 INPP5E DKFZP434A062 QSOX2 C9orf163 CCDC187 DNLZ NACC2 C9orf69 PMPCA GPSM1 NOTCH1 UBAC1 SEC16A LOC101928722
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	NALT1 CAMSAP1 SNAPC4 LOC105376323 MIR4673 SDCCAG3 LHX3 CARD9 ESP33 QSOX2 C9orf163 DNLZ NACC2 NOTCH1 SEC16A LOC101928722 LOC107987142 INPP5E DKFZP434A062 MIR4674 CCDC187 C9orf69 PMPCA KCNT1 GPSM1 UBAC1

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