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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNPLA6 | NM_001166111.1 | 1 | 68 | NP_001159583.1 |
NM_001166112.1 | NP_001159584.1 | |||
NM_001166113.1 | NP_001159585.1 | |||
NM_006702.4 | NP_006693.3 | |||
AK293807.1 | ||||
AK294021.1 | ||||
AK302462.1 | ||||
BC050553.1 | AAH50553.1 | |||
BC051768.1 | AAH51768.1 | |||
DA104284.1 | ||||
DA247219.1 | ||||
DB068563.1 | 1 | 68 |
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 | EVI5L MCOLN1 MIR6792 LOC107985283 FCER2 C19orf45 PET100 PCP2 INSR MCEMP1 TRAPPC5 CAMSAP3 CLEC4G PEX11G STXBP2 ZNF358 LOC100128573 CLEC4GP1 CLEC4M XAB2 CD209 RETN ARHGEF18 PNPLA6 |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | MCOLN1 MIR6792 XAB2 PET100 PCP2 CAMSAP3 ZNF358 PNPLA6 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | MCOLN1 MIR6792 C19orf45 PCP2 INSR CLEC4G PEX11G LOC729458 ZNF358 LOC100128573 CLEC4GP1 MBD3L4 ADGRE4P MBD3L5 XAB2 RETN FLJ25758 ARHGEF18 LOC107985283 FCER2 PET100 MCEMP1 TRAPPC5 CAMSAP3 MBD3L2 STXBP2 MBD3L3 ADGRE1 ZNF557 CLEC4M CD209 PNPLA6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |