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: | Overlaps Exon 22 - Intron 22 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNPLA6 | NM_001166111.1 | NP_001159583.1 | ||
NM_001166112.1 | NP_001159584.1 | |||
NM_001166113.1 | NP_001159585.1 | |||
NM_001166114.1 | NP_001159586.1 | |||
NM_006702.4 | NP_006693.3 | |||
AJ004832.1 | CAA06164.1 | |||
AK293807.1 | ||||
AK294021.1 | ||||
AK302462.1 | ||||
BC038229.1 | AAH38229.1 | |||
BC050553.1 | AAH50553.1 | |||
BC051768.1 | 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 | MCOLN1 ZNF358 MIR6792 PCP2 STXBP2 PNPLA6 MCEMP1 RETN CLEC4G C19orf45 CAMSAP3 FCER2 LOC100128573 TRAPPC5 PEX11G XAB2 LOC107985283 CD209 CLEC4M INSR EVI5L PET100 CLEC4GP1 ARHGEF18 |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | MCOLN1 ZNF358 CAMSAP3 MIR6792 PCP2 XAB2 PNPLA6 PET100 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | ZNF557 ADGRE1 PNPLA6 MCEMP1 MBD3L4 MBD3L5 LOC729458 CD209 CLEC4GP1 MBD3L2 MCOLN1 ZNF358 ADGRE4P MIR6792 PCP2 STXBP2 FLJ25758 RETN CLEC4G MBD3L3 C19orf45 CAMSAP3 FCER2 LOC100128573 TRAPPC5 PEX11G XAB2 LOC107985283 CLEC4M INSR PET100 ARHGEF18 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |