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

Chr.11:823791 on build GRCh38
Cytoband
11p15.5
Assay ID Hs01173335_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 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PNPLA2 NM_020376.3 7 1058 NP_065109.1
XM_006718265.3 7 1064 XP_006718328.1
XM_006718266.3 6 1004 XP_006718329.1
XM_017018028.1 6 1004 XP_016873517.1
AF055000.1 5 576 AAC09354.1
AJ278475.1 7 927 CAC01131.1
AJ278476.1 6 947 CAC01132.1
AL833707.1 2 143
AY203925.1 4 1568 AAP34448.1
AY894804.1 6 855 AAW81962.1
BC011958.1 4 446 AAH11958.1
BC017280.2 7 1057 AAH17280.1
HQ651812.1 7 1058
JF279441.1 7 1058
JF279442.1 7 1058
KF601369.1 7 1058
KF833264.1 6 855
KF833265.1 6 855

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

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