Hs03678942_cn

• Gene Symbol: PPP1R16A
• Assay Reference Genome Location: Chr.8:144493496 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 84988
• Gene Name: protein phosphatase 1 regulatory subunit 16A
• Gene Aliases: MYPT3
• Location: Chr.8:144477987-144502121 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPP1R16A	XM_005272350.2			XP_005272407.1
	XM_017013912.1			XP_016869401.1
	XM_017013913.1			XP_016869402.1
	XM_017013914.1			XP_016869403.1
	XM_017013915.1			XP_016869404.1
	AK090471.1			BAC03452.1
	BM761618.1
	BM762557.1
	CN301973.1
	DB457525.1
	HY013777.1
	HY050499.1
	HY168641.1
	HY176205.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	MAF1 ADCK5 DGAT1 MIR6849 SCRT1 CYHR1 CYC1 PLEC TMEM249 GPT SHARPIN PPP1R16A OPLAH GRINA FBXL6 MFSD3 MIR7112 RECQL4 SLC52A2 MIR6848 WDR97 MIR661 LOC101928902 MIR939 CPSF1 VPS28 LOC101928953 MIR6893 KIFC2 SMPD5 FOXH1 BOP1 EXOSC4 SPATC1 LRRC14 HGH1 MIR6846 PARP10 MIR6847 TONSL GPAA1 MIR1234 SLC39A4 HSF1 SCX MROH1 TONSL-AS1
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	RECQL4 GPT ARHGAP39 PPP1R16A LRRC24 LOC101928953 C8orf82 MFSD3 LRRC14
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	ADCK5 MIR6849 CYHR1 TMEM249 GPT PPP1R16A LRRC24 C8orf82 FBXL6 MFSD3 RECQL4 SLC52A2 LOC101928902 MIR939 CPSF1 VPS28 LOC101928953 MIR6893 KIFC2 FOXH1 LRRC14 ARHGAP39 TONSL MIR1234 SLC39A4 TONSL-AS1
esv3619128	Chr.8:144492556 - 144495696 on Build GRCh38	Loss	PPP1R16A
esv3544401	Chr.8:144492578 - 144495855 on Build GRCh38	Deletion	PPP1R16A
esv21785	Chr.8:144492309 - 144495404 on Build GRCh38	Loss	PPP1R16A
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	RECQL4 GPT PPP1R16A LRRC24 LOC101928953 TONSL CYHR1 KIFC2 FOXH1 MFSD3 LRRC14 TONSL-AS1
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	RECQL4 VPS28 LOC101928953 MIR6893 CYHR1 KIFC2 FOXH1 LRRC14 GPT PPP1R16A LRRC24 TONSL SLC39A4 MFSD3 TONSL-AS1
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	ADCK5 DGAT1 MIR6849 SCRT1 CYHR1 TMEM249 GPT PPP1R16A FBXL6 MFSD3 RECQL4 SLC52A2 MIR6848 LOC101928902 MIR939 CPSF1 VPS28 LOC101928953 MIR6893 KIFC2 FOXH1 BOP1 TONSL MIR1234 SLC39A4 HSF1 TONSL-AS1
esv2671709	Chr.8:144492586 - 144495687 on Build GRCh38	Deletion	PPP1R16A
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	RECQL4 GPT PPP1R16A LOC101928953 MFSD3
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MAF1 ADCK5 DGAT1 MIR6849 SCRT1 CYHR1 CYC1 PLEC TMEM249 GPT SHARPIN PPP1R16A OPLAH GRINA FBXL6 MFSD3 MIR7112 RECQL4 SLC52A2 MIR6848 WDR97 MIR661 LOC101928902 MIR939 CPSF1 VPS28 LOC101928953 MIR6893 KIFC2 SMPD5 FOXH1 BOP1 EXOSC4 SPATC1 LRRC14 HGH1 MIR6846 PARP10 MIR6847 TONSL GPAA1 MIR1234 SLC39A4 HSF1 SCX MROH1 TONSL-AS1
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	RECQL4 LOC101928953 CYHR1 KIFC2 FOXH1 LRRC14 GPT ARHGAP39 PPP1R16A LRRC24 TONSL C8orf82 MFSD3 TONSL-AS1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MAF1 ADCK5 DGAT1 MIR6849 SCRT1 CYHR1 CYC1 TMEM249 GPT SHARPIN PPP1R16A LRRC24 OPLAH C8orf82 FBXL6 MFSD3 MIR7112 RECQL4 SLC52A2 MIR6848 WDR97 LOC101928902 MIR939 CPSF1 VPS28 LOC101928953 MIR6893 KIFC2 SMPD5 FOXH1 BOP1 EXOSC4 SPATC1 LRRC14 HGH1 ARHGAP39 ZNF251 MIR6846 MIR6847 TONSL GPAA1 MIR1234 SLC39A4 HSF1 SCX MROH1 TONSL-AS1
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	RECQL4 GPT PPP1R16A LRRC24 LOC101928953 CYHR1 KIFC2 FOXH1 MFSD3 LRRC14

More Information

Additional Information:

For this assay, SNP(s) [rs73716220] 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

Panther Classification:

Molecular Function -

phosphatase modulator

Gene Ontology Categories:

Process(es)

regulation of catalytic activity

Function(s)

protein binding
protein phosphatase type 1 regulator activity