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

Chr.11:821752 on build GRCh38
Cytoband
11p15.5
Assay ID Hs02372989_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:

 Within Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PNPLA2 NM_020376.3 3 515 NP_065109.1
XM_006718265.3 3 521 XP_006718328.1
XM_006718266.3 2 461 XP_006718329.1
XM_017018028.1 2 461 XP_016873517.1
AF055000.1 AAC09354.1
AJ278475.1 3 384 CAC01131.1
AJ278476.1 2 404 CAC01132.1
AK308435.1 2 481
AY203925.1 1 918 AAP34448.1
AY894804.1 2 312 AAW81962.1
BC017280.2 3 514 AAH17280.1
HQ651812.1 3 515
JF279441.1 3 515
JF279442.1 3 515
KF601369.1 3 515
KF833264.1 2 312
KF833265.1 2 312

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

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