Hs02056724_cn

• Gene Symbol: PPP1R3F
• Assay Reference Genome Location: Chr.X:49270893 on build GRCh38
• Cytoband: Xp11.23

Target Gene Details

• Entrez Gene ID: 89801
• Gene Name: protein phosphatase 1 regulatory subunit 3F
• Gene Aliases: HB2E, LL0XNC01-7P3.1, R3F
• Location: Chr.X:49269822-49301465 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPP1R3F	NM_001184745.1			NP_001171674.1
	NM_033215.4			NP_149992.3
	XM_005272687.3			XP_005272744.1
	XM_017029934.1			XP_016885423.1
	XM_017029935.1			XP_016885424.1
	AK056909.1
	AK303738.1
	BC131588.1
	DC412626.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv471602	Chr.X:49205142 - 49320261 on Build GRCh38	Gain	PPP1R3F FOXP3 CACNA1F GAGE10 CCDC22
nsv528292	Chr.X:48433286 - 49274368 on Build GRCh38	Gain	PORCN PPP1R3F SUV39H1 CCDC120 SLC35A2 PRAF2 FOXP3 RBM3 FTSJ1 SLC38A5 HDAC6 KCND1 PRICKLE3 ERAS GRIPAP1 TFE3 TBC1D25 PQBP1 LOC101927635 SYP-AS1 PIM2 GPKOW WDR13 PCSK1N CACNA1F GLOD5 WDR45 PLP2 MAGIX TIMM17B EBP SYP GATA1 WAS CCDC22 OTUD5
esv32909	Chr.X:48003374 - 49285646 on Build GRCh38	Gain+Loss	PORCN PPP1R3F SUV39H1 CCDC120 SLC35A2 PRAF2 FOXP3 RBM3 FTSJ1 SLC38A5 SPACA5B HDAC6 KCND1 ZNF630-AS1 PRICKLE3 ERAS GRIPAP1 TFE3 TBC1D25 PQBP1 SSX4 LOC101927635 SYP-AS1 PIM2 GPKOW WDR13 SSX4B SSX3 PCSK1N CACNA1F GLOD5 WDR45 PLP2 MAGIX SPACA5 SSX5 ZNF182 TIMM17B EBP SSX1 SYP SSX6 GATA1 SSX9 WAS CCDC22 ZNF630 OTUD5
nsv469734	Chr.X:49205141 - 49320261 on Build GRCh38	Gain+Loss	PPP1R3F FOXP3 CACNA1F GAGE10 CCDC22

More Information

Additional Information:

For this assay, SNP(s) [rs73498100] 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

Panther Classification:

Molecular Function -

phosphatase modulator

Gene Ontology Categories:

Process(es)

regulation of glycogen biosynthetic process
regulation of glycogen (starch) synthase activity

Function(s)

protein phosphatase binding
glycogen binding