Hs00765962_cn

• Gene Symbol: CARD14
• Assay Reference Genome Location: Chr.17:80208771 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 79092
• Gene Name: caspase recruitment domain family member 14
• Gene Aliases: BIMP2, CARMA2, PRP, PSORS2, PSS1
• Location: Chr.17:80169992-80209331 on Build GRCh38
• Assay Gene Location: Within Exon 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CARD14	NM_024110.4	21	3609	NP_077015.2
	NR_047566.1	22	3616
	XM_011525212.1	23	4130	XP_011523514.1
	XM_011525213.1	23	3872	XP_011523515.1
	XM_011525215.1	22	3932	XP_011523517.1
	XM_011525216.1	22	3632	XP_011523518.1
	XM_011525217.1	22	3688	XP_011523519.1
	XM_011525218.2	22	3671	XP_011523520.1
	XM_017025057.1	23	4127	XP_016880546.1
	AF322642.1	21	3647	AAG53403.1
	AK002138.1	5	1174
	AK091123.1	22	3574
	AK095416.1	1	1826
	AX746790.1	22	3574
	AY032927.1	20	3444	AAK54453.1
	BU617627.1
	DB314596.1	1	193

Target Gene Details

• Entrez Gene ID: 6448
• Gene Name: N-sulfoglucosamine sulfohydrolase
• Gene Aliases: HSS, MPS3A, SFMD
• Location: Chr.17:80200668-80220400 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SGSH	XM_005257583.4			XP_005257640.1
	XM_017024951.1			XP_016880440.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1066606	Chr.17:79955666 - 80224006 on Build GRCh38	Gain	MIR1268B LOC105371920 SGSH TBC1D16 EIF4A3 GAA CARD14 CCDC40 SLC26A11
nsv469591	Chr.17:80085322 - 80293486 on Build GRCh38	Loss	MIR1268B LOC105371920 SGSH EIF4A3 GAA CARD14 CCDC40 SLC26A11 RNF213
nsv457968	Chr.17:80205094 - 80292960 on Build GRCh38	Loss	SGSH CARD14 SLC26A11 RNF213
nsv576130	Chr.17:80184196 - 80220032 on Build GRCh38	Loss	LOC105371920 SGSH CARD14
nsv833562	Chr.17:80114523 - 80301339 on Build GRCh38	Loss	LOC105371920 SGSH EIF4A3 GAA CARD14 SLC26A11 RNF213

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

hydrolase

Gene Ontology Categories:

Process(es)

positive regulation of protein phosphorylation
apoptotic process
activation of NF-kappaB-inducing kinase activity
tumor necrosis factor-mediated signaling pathway
negative regulation of apoptotic process
positive regulation of NF-kappaB transcription factor activity
glycosaminoglycan catabolic process
heparan sulfate proteoglycan catabolic process

Function(s)

CARD domain binding
sulfuric ester hydrolase activity
N-sulfoglucosamine sulfohydrolase activity
metal ion binding