Hs01652415_cn

• Gene Symbol: ARHGAP45
• Assay Reference Genome Location: Chr.19:1078053 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: Overlaps Exon 15 - Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARHGAP45	NM_001258328.2			NP_001245257.1
	NM_001282334.1			NP_001269263.1
	NM_001282335.1			NP_001269264.1
	NM_001321232.1			NP_001308161.1
	NM_012292.4			NP_036424.2
	XM_006722713.1			XP_006722776.1
	XM_011527858.1			XP_011526160.1
	XM_011527860.2			XP_011526162.1
	AK122776.1
	AK128097.1
	AK300341.1
	AK304271.1
	AK304765.1
	BC035564.1			AAH35564.1
	BC065223.1			AAH65223.1
	BU838153.1
	D86976.1
	DB157802.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs72975505] 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, 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