Assay Details
Target Gene Details
Entrez Gene ID: | 10908 |
Gene Name: | patatin like phospholipase domain containing 6 |
Gene Aliases: |
BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws |
Location: |
Chr.19:7534152-7561767 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNPLA6 | NM_001166111.1 | 11 | 1359 | NP_001159583.1 |
NM_001166112.1 | 12 | 1375 | NP_001159584.1 | |
NM_001166113.1 | 12 | 1246 | NP_001159585.1 | |
NM_001166114.1 | 9 | 1178 | NP_001159586.1 | |
NM_006702.4 | 12 | 1258 | NP_006693.3 | |
AJ004832.1 | 12 | 1132 | CAA06164.1 | |
AK293807.1 | 9 | 895 | ||
AK294021.1 | 11 | 1316 | ||
AK302462.1 | 12 | 1375 | ||
BC038229.1 | 9 | 995 | AAH38229.1 | |
BC050553.1 | 12 | 1221 | AAH50553.1 | |
BC051768.1 | 11 | 1164 | AAH51768.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1060887 | Chr.19:7089546 - 7861087 on Build GRCh38 | Gain | ZNF358 CLEC4M MIR6792 MCEMP1 RETN LOC100128573 PCP2 C19orf45 STXBP2 TRAPPC5 ARHGEF18 CLEC4G INSR PNPLA6 FCER2 CLEC4GP1 XAB2 LOC107985283 CAMSAP3 MCOLN1 PEX11G CD209 PET100 EVI5L |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | ZNF358 PNPLA6 MIR6792 XAB2 CAMSAP3 MCOLN1 PCP2 PET100 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | MBD3L4 MBD3L2 ADGRE4P CLEC4M ADGRE1 MCEMP1 PCP2 C19orf45 STXBP2 TRAPPC5 CLEC4G INSR PNPLA6 FCER2 CLEC4GP1 MBD3L5 XAB2 CAMSAP3 MCOLN1 PEX11G CD209 PET100 ZNF358 LOC729458 MIR6792 MBD3L3 RETN LOC100128573 FLJ25758 ARHGEF18 ZNF557 LOC107985283 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |