Hs04018853_cn

• Gene Symbol: ARHGAP45
• Assay Reference Genome Location: Chr.19:1068079 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 23526
• Gene Name: Rho GTPase activating protein 45
• Gene Aliases: HA-1, HLA-HA1, HMHA1
• Location: Chr.19:1065923-1087831 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARHGAP45	NM_001258328.2			NP_001245257.1
	NM_001321232.1			NP_001308161.1
	NM_012292.4			NP_036424.2
	XM_006722713.1			XP_006722776.1
	XM_011527858.1			XP_011526160.1
	AK300341.1
	AK304271.1
	AK304765.1
	BC035564.1			AAH35564.1
	BC065223.1			AAH65223.1
	D86976.1
	DB135747.1
	DB148385.1
	DB162560.1
	DC382305.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1058677	Chr.19:1054061 - 1283189 on Build GRCh38	Loss	EFNA2 MIDN ABCA7 C19orf24 CIRBP-AS1 LOC102725180 CIRBP ARHGAP45 ATP5D STK11 POLR2E GPX4 CBARP SBNO2
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	EFNA2 GRIN3B MIDN ABCA7 C19orf24 CIRBP-AS1 LOC102725180 CIRBP ARHGAP45 ARID3A KISS1R R3HDM4 ATP5D STK11 LOC105372235 RNU6-2 POLR2E WDR18 GPX4 CBARP TMEM259 SBNO2 RNU6-9 CNN2
dgv136n111	Chr.19:1038223 - 1329640 on Build GRCh38	Deletion	EFNA2 MIDN ABCA7 C19orf24 CIRBP-AS1 LOC102725180 CIRBP ARHGAP45 ATP5D STK11 POLR2E GPX4 CBARP SBNO2 CNN2
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	GRIN3B MIDN LOC102725180 KISS1R STK11 RNU6-2 WDR18 TMEM259 SBNO2 CNN2 EFNA2 ABCA7 C19orf24 CIRBP-AS1 MED16 CIRBP ARHGAP45 ARID3A R3HDM4 ATP5D LOC105372235 POLR2E GPX4 CBARP RNU6-9
esv3643383	Chr.19:1012555 - 1069137 on Build GRCh38	Gain	ABCA7 RNU6-2 TMEM259 ARHGAP45 CNN2
nsv470102	Chr.19:1046521 - 1152656 on Build GRCh38	Loss	ABCA7 POLR2E GPX4 SBNO2 ARHGAP45
nsv469845	Chr.19:951640 - 1144486 on Build GRCh38	Loss	GRIN3B LOC105372235 ABCA7 RNU6-2 POLR2E WDR18 GPX4 TMEM259 SBNO2 ARHGAP45 ARID3A CNN2
nsv833704	Chr.19:951641 - 1144486 on Build GRCh38	Gain	GRIN3B LOC105372235 ABCA7 RNU6-2 POLR2E WDR18 GPX4 TMEM259 SBNO2 ARHGAP45 ARID3A CNN2
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	ODF3L2 MIR4745 GRIN3B BSG CDC34 POLRMT KISS1R PLPPR3 AZU1 MADCAM1 TPGS1 RNU6-2 PRTN3 WDR18 ELANE TMEM259 PALM FSTL3 CNN2 CFD GZMM ABCA7 THEG SHC2 MED16 FGF22 RNF126 ARHGAP45 ARID3A R3HDM4 MISP HCN2 PTBP1 LOC105372235 POLR2E LOC101928450 GPX4 PRSS57 C2CD4C RNU6-9 MIR3187
dgv135n111	Chr.19:1014378 - 1156398 on Build GRCh38	Deletion	ABCA7 RNU6-2 POLR2E GPX4 TMEM259 SBNO2 ARHGAP45 CNN2

More Information

Additional Information:

For this assay, SNP(s) [rs113294002] 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)

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

Function(s)

GTPase activator activity
protein binding
metal ion binding