Hs00434257_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136364118 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	1961	NP_434700.2
	NM_052814.3	12	1652	NP_434701.1
	AF311287.1	13	1922	AAG28790.1
	AK024001.1	14	2015	BAB14766.1
	AK127481.1	5	4416
	AK292081.1	13	1913
	BC008877.2	12	1627	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 CARD9 GPSM1
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	DNLZ PMPCA SDCCAG3 CARD9 INPP5E GPSM1 SEC16A SNAPC4
nsv6764	Chr.9:136342675 - 136387661 on Build GRCh38	Deletion	DNLZ CARD9 GPSM1 SNAPC4
nsv1046074	Chr.9:136228197 - 136393924 on Build GRCh38	Gain	LOC101928722 DNLZ DKFZP434A062 ESP33 CARD9 QSOX2 GPSM1 SNAPC4 CCDC187
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	MAMDC4 SAPCD2 LCN10 RABL6 LCNL1 SNORA17B PTGDS CLIC3 MIR126 ABCA2 EDF1 LINC01451 MIR4479 LCN6 FUT7 MIR4673 LRRC26 NPDC1 MIR3621 LCN12 PMPCA LCN8 MAN1B1 EGFL7 SEC16A AGPAT2 FAM69B SNHG7 C8G GRIN1 PHPT1 NALT1 MIR6722 SDCCAG3 TRAF2 C9orf139 FBXW5 INPP5E SNAPC4 DNLZ SNORA17A MIR4292 CCDC183-AS1 CARD9 NOTCH1 HSPC324 CCDC183 C9orf142 PRR31 MIR4674 LCN15 ENTPD2 LOC101930307 TMEM141 DPP7 TMEM210 MAN1B1-AS1 C9orf163 C9orf172 UAP1L1 LOC100128593
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	NALT1 MAMDC4 LCN10 RABL6 MIR6722 SNORA17B SDCCAG3 TRAF2 MIR126 INPP5E SNAPC4 EDF1 LINC01451 MIR4479 DNLZ LCN6 SNORA17A MIR4292 CCDC183-AS1 CARD9 NOTCH1 HSPC324 MIR4673 CCDC183 PMPCA LCN8 MIR4674 LCN15 EGFL7 TMEM141 SEC16A AGPAT2 FAM69B SNHG7 C9orf163 GPSM1 C9orf172 PHPT1 LOC100128593
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	LOC101928722 LOC107987142 DKFZP434A062 PMPCA SDCCAG3 ESP33 UBAC1 INPP5E NACC2 C9orf69 SEC16A SNAPC4 LHX3 LOC105376323 DNLZ CAMSAP1 CARD9 NOTCH1 QSOX2 C9orf163 GPSM1 CCDC187
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	LOC101928722 NALT1 DKFZP434A062 KCNT1 SDCCAG3 UBAC1 INPP5E C9orf69 SNAPC4 LHX3 DNLZ CARD9 NOTCH1 QSOX2 MIR4673 LOC107987142 PMPCA ESP33 MIR4674 NACC2 SEC16A LOC105376323 CAMSAP1 C9orf163 GPSM1 CCDC187

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