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 Intron 18 |
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 | CLEC4M LOC100128573 ZNF358 PET100 EVI5L ARHGEF18 PNPLA6 MIR6792 STXBP2 TRAPPC5 CAMSAP3 C19orf45 RETN LOC107985283 CLEC4G MCEMP1 CD209 XAB2 PCP2 PEX11G MCOLN1 INSR CLEC4GP1 FCER2 |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | ZNF358 PET100 XAB2 PNPLA6 PCP2 MIR6792 MCOLN1 CAMSAP3 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | CLEC4M LOC100128573 ZNF358 PET100 LOC729458 ARHGEF18 ZNF557 STXBP2 MBD3L4 CAMSAP3 C19orf45 CD209 FLJ25758 XAB2 PCP2 PEX11G ADGRE1 INSR ADGRE4P PNPLA6 MIR6792 MBD3L3 TRAPPC5 MBD3L2 RETN LOC107985283 CLEC4G MCEMP1 MCOLN1 MBD3L5 CLEC4GP1 FCER2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |