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 Intron 9 - Exon 10 |
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 | LOC107985283 CAMSAP3 INSR MCOLN1 TRAPPC5 CLEC4GP1 ARHGEF18 ZNF358 RETN PCP2 LOC100128573 XAB2 CLEC4M STXBP2 MIR6792 MCEMP1 CLEC4G FCER2 CD209 EVI5L PET100 PNPLA6 PEX11G C19orf45 |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | CAMSAP3 XAB2 MCOLN1 MIR6792 PET100 ZNF358 PCP2 PNPLA6 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | MCOLN1 TRAPPC5 CLEC4GP1 ARHGEF18 MBD3L2 FLJ25758 XAB2 MBD3L4 ZNF557 STXBP2 MIR6792 MCEMP1 MBD3L3 PET100 PNPLA6 PEX11G LOC107985283 CAMSAP3 INSR ZNF358 RETN ADGRE1 PCP2 MBD3L5 LOC100128573 CLEC4M LOC729458 CLEC4G ADGRE4P FCER2 CD209 C19orf45 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |