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 16 - Exon 17 |
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 RETN PCP2 EVI5L CLEC4M LOC100128573 MCOLN1 MCEMP1 FCER2 PNPLA6 XAB2 CLEC4G PET100 CLEC4GP1 INSR STXBP2 MIR6792 CAMSAP3 CD209 PEX11G C19orf45 ARHGEF18 ZNF358 TRAPPC5 |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | PNPLA6 XAB2 PET100 PCP2 MIR6792 CAMSAP3 MCOLN1 ZNF358 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | ADGRE1 LOC729458 LOC107985283 RETN MBD3L5 CLEC4M LOC100128573 MCOLN1 MCEMP1 FCER2 CLEC4GP1 INSR STXBP2 MIR6792 CAMSAP3 CD209 PEX11G C19orf45 ZNF358 ZNF557 PCP2 MBD3L2 ADGRE4P FLJ25758 PNPLA6 XAB2 CLEC4G PET100 MBD3L4 MBD3L3 ARHGEF18 TRAPPC5 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |