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

Chr.11:824364 on build GRCh38
Cytoband
11p15.5
Assay ID Hs00915360_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 8
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PNPLA2 NM_020376.3 9 1306 NP_065109.1
XM_006718265.3 8 1454 XP_006718328.1
XM_006718266.3 7 1394 XP_006718329.1
XM_017018028.1 8 1252 XP_016873517.1
AF055000.1 7 824 AAC09354.1
AJ278475.1 9 1175 CAC01131.1
AJ278476.1 8 1195 CAC01132.1
AL833707.1 3 533
AY203925.1 5 1956 AAP34448.1
AY894804.1 8 1103 AAW81962.1
BC011958.1 6 694 AAH11958.1
BC017280.2 9 1305 AAH17280.1
HQ651812.1 9 1306
JF279441.1 9 1306
JF279442.1 9 1306
KF601369.1 9 1306
KF833264.1 8 1103
KF833265.1 8 1103

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv1013n100 Chr.11:772982 - 933569 on Build GRCh38 Gain PIDD1 SNORA52 PNPLA2 CHID1 POLR2L LOC171391 CEND1 PANO1 RPLP2 CRACR2B PDDC1 SLC25A22 AP2A2 TSPAN4 CD151
esv2759794 Chr.11:409846 - 1336162 on Build GRCh38 Loss SIGIRR SCT MUC6 MIR210HG CHID1 TOLLIP LOC171391 MUC5B CDHR5 LOC101927503 RASSF7 CEND1 PANO1 MUC2 RPLP2 CRACR2B AP2A2 TALDO1 MIR210 CD151 RNH1 ANO9 PHRF1 PIDD1 SNORA52 PNPLA2 DRD4 POLR2L MIR6744 LMNTD2 LOC143666 EPS8L2 DEAF1 TMEM80 PDDC1 IRF7 PTDSS2 SLC25A22 TSPAN4 HRAS LRRC56 LOC101059906 TOLLIP-AS1 MUC5AC
dgv182e199 Chr.11:349830 - 943372 on Build GRCh38 Deletion SIGIRR SCT MIR210HG CHID1 LOC171391 CDHR5 RASSF7 CEND1 PANO1 RPLP2 PKP3 CRACR2B AP2A2 TALDO1 MIR210 CD151 RNH1 ANO9 PHRF1 PIDD1 SNORA52 PNPLA2 DRD4 POLR2L LMNTD2 LOC143666 EPS8L2 DEAF1 TMEM80 B4GALNT4 PDDC1 IRF7 PTDSS2 SLC25A22 TSPAN4 HRAS LRRC56 LOC101059906
nsv8759 Chr.11:775539 - 835248 on Build GRCh38 Gain CEND1 PANO1 PIDD1 SNORA52 PNPLA2 RPLP2 CRACR2B PDDC1 SLC25A22 LOC171391 CD151
nsv1159791 Chr.11:461793 - 909492 on Build GRCh38 Deletion SCT MIR210HG CHID1 LOC171391 CDHR5 RASSF7 CEND1 PANO1 RPLP2 CRACR2B TALDO1 MIR210 CD151 RNH1 PHRF1 PIDD1 SNORA52 PNPLA2 DRD4 POLR2L LMNTD2 LOC143666 EPS8L2 DEAF1 TMEM80 PDDC1 IRF7 PTDSS2 SLC25A22 TSPAN4 HRAS LRRC56 LOC101059906
nsv552871 Chr.11:766479 - 870446 on Build GRCh38 Loss PIDD1 SNORA52 PNPLA2 CHID1 POLR2L LOC171391 CEND1 PANO1 RPLP2 CRACR2B PDDC1 SLC25A22 TSPAN4 CD151
nsv469923 Chr.11:378188 - 1302334 on Build GRCh38 Loss SIGIRR SCT MUC6 MIR210HG CHID1 TOLLIP LOC171391 MUC5B CDHR5 LOC101927503 RASSF7 CEND1 PANO1 MUC2 RPLP2 PKP3 CRACR2B AP2A2 TALDO1 MIR210 CD151 RNH1 ANO9 PHRF1 PIDD1 SNORA52 PNPLA2 DRD4 POLR2L MIR6744 LMNTD2 LOC143666 EPS8L2 DEAF1 TMEM80 B4GALNT4 PDDC1 IRF7 PTDSS2 SLC25A22 TSPAN4 HRAS LRRC56 LOC101059906 MUC5AC
dgv1526n54 Chr.11:812533 - 843713 on Build GRCh38 Gain PNPLA2 RPLP2 CRACR2B POLR2L TSPAN4 CD151
nsv552874 Chr.11:823590 - 843713 on Build GRCh38 Gain PNPLA2 CRACR2B POLR2L TSPAN4 CD151
nsv832044 Chr.11:809019 - 938308 on Build GRCh38 Loss PIDD1 SNORA52 PNPLA2 RPLP2 CHID1 CRACR2B POLR2L AP2A2 TSPAN4 CD151
nsv1040044 Chr.11:776335 - 900929 on Build GRCh38 Gain+Loss PIDD1 SNORA52 PNPLA2 CHID1 POLR2L LOC171391 CEND1 PANO1 RPLP2 CRACR2B PDDC1 SLC25A22 TSPAN4 CD151
nsv1048774 Chr.11:816471 - 900929 on Build GRCh38 Gain PNPLA2 CHID1 CRACR2B POLR2L TSPAN4 CD151
nsv951272 Chr.11:751201 - 911500 on Build GRCh38 Deletion PIDD1 SNORA52 PNPLA2 CHID1 POLR2L LOC171391 CEND1 PANO1 RPLP2 CRACR2B PDDC1 SLC25A22 TSPAN4 TALDO1 CD151

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