Assay Details
Target Gene Details
Entrez Gene ID: | 204474 |
Gene Name: | protein disulfide isomerase like, testis expressed |
Gene Aliases: |
PDIA7 |
Location: |
Chr.16:20359170-20404742 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 11 - Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDILT | NM_174924.1 | NP_777584.1 | ||
XM_011545765.1 | XP_011544067.1 | |||
XM_011545766.2 | XP_011544068.1 | |||
AK097476.1 | BAC05068.1 | |||
BC042607.1 | AAH42607.1 | |||
BC044936.1 | AAH44936.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv2795n100 | Chr.16:20325210 - 20411678 on Build GRCh38 | Gain | UMOD PDILT ACSM5 GP2 |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | UMOD PDILT ACSM5 ACSM2A |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | THUMPD1 CLEC19A ERI2 LOC102723385 CRYM-AS1 ITPRIPL2 KNOP1 GP2 SNX29P1 SYT17 CCP110 IQCK ACSM2A ACSM3 ACSM1 TMEM159 GDE1 SMG1P3 PDILT COQ7 ACSM5 GPR139 DNAH3 ACSM2B DCUN1D3 ZP2 LOC100190986 LYRM1 UMOD NPIPB3 CRYM LOC81691 TMC5 C16orf62 ANKS4B TMC7 GPRC5B |
nsv1759 | Chr.16:20339264 - 20373446 on Build GRCh38 | Insertion | UMOD PDILT |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | UMOD PDILT ACSM5 ACSM2A |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |