Hs07533088_cn

• Gene Symbol: ARHGAP39
• Assay Reference Genome Location: Chr.8:144531105 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 80728
• Gene Name: Rho GTPase activating protein 39
• Gene Aliases: CrGAP, Vilse
• Location: Chr.8:144529179-144700520 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARHGAP39	NM_001308207.1			NP_001295136.1
	NM_001308208.1			NP_001295137.1
	NM_025251.2			NP_079527.1
	XM_011517308.1			XP_011515610.1
	XM_011517309.1			XP_011515611.1
	XM_011517312.2			XP_011515614.1
	XM_017013870.1			XP_016869359.1
	XM_017013871.1			XP_016869360.1
	AB051475.1
	AK092501.1
	AK296353.1
	AK303851.1
	BC013071.2			AAH13071.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv23868	Chr.8:144531056 - 144532191 on Build GRCh38	Gain+Loss	ARHGAP39
nsv522459	Chr.8:144519234 - 144845293 on Build GRCh38	Loss	ARHGAP39 LRRC14 COMMD5 LRRC24 C8orf82 MIR6850 ZNF7 RPL8 ZNF34 ZNF251 ZNF517
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	ARHGAP39 LRRC14 MFSD3 LRRC24 C8orf82 LOC101928953 RECQL4 PPP1R16A GPT
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	TMEM249 LRRC14 MIR6893 LRRC24 RECQL4 ADCK5 GPT FBXL6 ARHGAP39 FOXH1 LOC101928953 TONSL-AS1 PPP1R16A VPS28 CYHR1 SLC39A4 MIR939 MIR1234 KIFC2 SLC52A2 LOC101928902 MFSD3 C8orf82 TONSL CPSF1 MIR6849
dgv1242e201	Chr.8:144531049 - 144532001 on Build GRCh38	Deletion	ARHGAP39
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	ARHGAP39 LRRC14 MFSD3 LRRC24 C8orf82 LOC101928953 RECQL4 PPP1R16A GPT
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	LRRC14 LRRC24 RECQL4 KIFC2 GPT ARHGAP39 MFSD3 C8orf82 FOXH1 LOC101928953 TONSL-AS1 PPP1R16A CYHR1 TONSL
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	TMEM249 LRRC14 MIR6893 LRRC24 RECQL4 GPAA1 ADCK5 GPT BOP1 ZNF251 FBXL6 ARHGAP39 FOXH1 LOC101928953 TONSL-AS1 PPP1R16A VPS28 CYHR1 SLC39A4 SCRT1 HSF1 WDR97 MIR939 SPATC1 MIR1234 MIR6847 CYC1 MIR6846 KIFC2 EXOSC4 MAF1 SLC52A2 LOC101928902 SHARPIN SMPD5 DGAT1 MROH1 SCX MFSD3 C8orf82 MIR7112 MIR6848 HGH1 TONSL CPSF1 MIR6849 OPLAH

More Information

Additional Information:

For this assay, SNP(s) [rs113457747] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

signal transduction
positive regulation of GTPase activity
regulation of small GTPase mediated signal transduction

Function(s)

GTPase activator activity