Hs01936582_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136369802 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 7 - Exon 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	INPP5E SNAPC4 PMPCA SDCCAG3 SEC16A CARD9
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	INPP5E GPSM1 SNAPC4 DNLZ PMPCA SDCCAG3 SEC16A CARD9
nsv6764	Chr.9:136342675 - 136387661 on Build GRCh38	Deletion	GPSM1 SNAPC4 DNLZ CARD9
nsv1046074	Chr.9:136228197 - 136393924 on Build GRCh38	Gain	DKFZP434A062 GPSM1 SNAPC4 CCDC187 QSOX2 DNLZ ESP33 CARD9 LOC101928722
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	LRRC26 NPDC1 DPP7 AGPAT2 HSPC324 NALT1 CCDC183-AS1 LCN6 SAPCD2 CCDC183 C9orf172 PTGDS LCNL1 TMEM210 RABL6 MAN1B1 LCN15 FBXW5 SNAPC4 NOTCH1 LCN10 SEC16A MIR4673 UAP1L1 EGFL7 FAM69B C8G C9orf142 MIR126 C9orf163 DNLZ SDCCAG3 LOC101930307 LCN8 MAMDC4 MAN1B1-AS1 MIR3621 PMPCA MIR4292 SNHG7 LOC100128593 MIR6722 TRAF2 PHPT1 ABCA2 LINC01451 LCN12 CLIC3 FUT7 ENTPD2 SNORA17B CARD9 SNORA17A INPP5E TMEM141 MIR4674 EDF1 MIR4479 GRIN1 C9orf139 PRR31
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	LCN8 AGPAT2 MAMDC4 HSPC324 PMPCA NALT1 CCDC183-AS1 LCN6 MIR4292 SNHG7 LOC100128593 CCDC183 C9orf172 MIR6722 RABL6 TRAF2 LCN15 PHPT1 GPSM1 SNAPC4 NOTCH1 LINC01451 LCN10 SEC16A MIR4673 SNORA17B CARD9 EGFL7 SNORA17A FAM69B INPP5E TMEM141 MIR4674 EDF1 MIR126 C9orf163 DNLZ SDCCAG3 MIR4479
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	DKFZP434A062 GPSM1 SNAPC4 NOTCH1 CCDC187 PMPCA SEC16A C9orf69 CARD9 UBAC1 LOC105376323 INPP5E QSOX2 C9orf163 DNLZ CAMSAP1 SDCCAG3 LHX3 LOC107987142 ESP33 NACC2 LOC101928722
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	CCDC187 PMPCA NALT1 QSOX2 CAMSAP1 LHX3 LOC107987142 KCNT1 ESP33 DKFZP434A062 GPSM1 SNAPC4 NOTCH1 SEC16A C9orf69 MIR4673 CARD9 UBAC1 LOC105376323 INPP5E MIR4674 C9orf163 DNLZ SDCCAG3 NACC2 LOC101928722

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