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See other PNPLA2 CNV Assays ›
Gene Symbol
PNPLA2
Assay Reference Genome
Location

Chr.11:822417 on build GRCh38
Cytoband
11p15.5
Assay ID Hs01631707_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 57104

Gene Name:

 patatin like phospholipase domain containing 2

Gene Aliases:

 1110001C14Rik, ATGL, FP17548, PEDF-R, TTS-2.2, TTS2, iPLA2zeta

Location:

 Chr.11:818895-825573 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 4 - Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PNPLA2 NM_020376.3 NP_065109.1
XM_006718265.3 XP_006718328.1
XM_006718266.3 XP_006718329.1
XM_017018028.1 XP_016873517.1
AF055000.1 AAC09354.1
AJ278475.1 CAC01131.1
AJ278476.1 CAC01132.1
AK308435.1
AY203925.1 AAP34448.1
AY894804.1 AAW81962.1
BC011958.1 AAH11958.1
BC017280.2 AAH17280.1
HQ651812.1
JF279441.1
JF279442.1
KF601369.1
KF833264.1
KF833265.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv552871 Chr.11:766479 - 870446 on Build GRCh38 Loss POLR2L CEND1 PNPLA2 CD151 PANO1 PIDD1 LOC171391 SLC25A22 SNORA52 CRACR2B TSPAN4 RPLP2 PDDC1 CHID1
nsv469923 Chr.11:378188 - 1302334 on Build GRCh38 Loss MIR6744 POLR2L ANO9 PNPLA2 CD151 MUC6 PTDSS2 RASSF7 SCT LOC171391 SLC25A22 LOC101059906 SIGIRR HRAS LOC101927503 TSPAN4 EPS8L2 PKP3 PHRF1 LRRC56 CEND1 DEAF1 MUC5B MIR210HG RNH1 B4GALNT4 TALDO1 PANO1 MUC2 PIDD1 TMEM80 SNORA52 CDHR5 AP2A2 TOLLIP LMNTD2 CRACR2B MUC5AC DRD4 LOC143666 RPLP2 MIR210 PDDC1 CHID1 IRF7
dgv1526n54 Chr.11:812533 - 843713 on Build GRCh38 Gain POLR2L PNPLA2 CD151 CRACR2B TSPAN4 RPLP2
dgv1013n100 Chr.11:772982 - 933569 on Build GRCh38 Gain POLR2L CEND1 PNPLA2 CD151 PANO1 PIDD1 LOC171391 SLC25A22 SNORA52 AP2A2 CRACR2B TSPAN4 RPLP2 PDDC1 CHID1
esv2759794 Chr.11:409846 - 1336162 on Build GRCh38 Loss MIR6744 POLR2L ANO9 PNPLA2 CD151 TOLLIP-AS1 MUC6 PTDSS2 RASSF7 SCT LOC171391 SLC25A22 LOC101059906 SIGIRR HRAS LOC101927503 TSPAN4 EPS8L2 PHRF1 LRRC56 CEND1 DEAF1 MUC5B MIR210HG RNH1 TALDO1 PANO1 MUC2 PIDD1 TMEM80 SNORA52 CDHR5 AP2A2 TOLLIP LMNTD2 CRACR2B MUC5AC DRD4 LOC143666 RPLP2 MIR210 PDDC1 CHID1 IRF7
nsv832044 Chr.11:809019 - 938308 on Build GRCh38 Loss PIDD1 POLR2L SNORA52 PNPLA2 AP2A2 CD151 CRACR2B TSPAN4 RPLP2 CHID1
dgv182e199 Chr.11:349830 - 943372 on Build GRCh38 Deletion POLR2L ANO9 PNPLA2 CD151 PTDSS2 RASSF7 SCT LOC171391 SLC25A22 LOC101059906 SIGIRR HRAS TSPAN4 EPS8L2 PKP3 PHRF1 LRRC56 CEND1 DEAF1 MIR210HG RNH1 B4GALNT4 TALDO1 PANO1 PIDD1 TMEM80 SNORA52 CDHR5 AP2A2 LMNTD2 CRACR2B DRD4 LOC143666 RPLP2 MIR210 PDDC1 CHID1 IRF7
nsv1040044 Chr.11:776335 - 900929 on Build GRCh38 Gain+Loss POLR2L CEND1 PNPLA2 CD151 PANO1 PIDD1 LOC171391 SLC25A22 SNORA52 CRACR2B TSPAN4 RPLP2 PDDC1 CHID1
nsv8759 Chr.11:775539 - 835248 on Build GRCh38 Gain PIDD1 LOC171391 SLC25A22 SNORA52 CEND1 PNPLA2 CD151 CRACR2B RPLP2 PANO1 PDDC1
nsv1159791 Chr.11:461793 - 909492 on Build GRCh38 Deletion POLR2L PNPLA2 CD151 PTDSS2 RASSF7 SCT LOC171391 SLC25A22 LOC101059906 HRAS TSPAN4 EPS8L2 PHRF1 LRRC56 CEND1 DEAF1 MIR210HG RNH1 TALDO1 PANO1 PIDD1 TMEM80 SNORA52 CDHR5 LMNTD2 CRACR2B DRD4 LOC143666 RPLP2 MIR210 PDDC1 CHID1 IRF7
nsv1048774 Chr.11:816471 - 900929 on Build GRCh38 Gain POLR2L PNPLA2 CD151 CRACR2B TSPAN4 CHID1
nsv951272 Chr.11:751201 - 911500 on Build GRCh38 Deletion POLR2L CEND1 PNPLA2 CD151 TALDO1 PANO1 PIDD1 LOC171391 SLC25A22 SNORA52 CRACR2B TSPAN4 RPLP2 PDDC1 CHID1

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