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: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDILT | NM_174924.1 | 7 | 1064 | NP_777584.1 |
XM_011545764.1 | 7 | 1095 | XP_011544066.1 | |
XM_011545765.1 | 7 | 1095 | XP_011544067.1 | |
XM_011545766.2 | 3 | 249 | XP_011544068.1 | |
AK097476.1 | 7 | 1090 | BAC05068.1 | |
BC042607.1 | 7 | 1064 | AAH42607.1 | |
BC044936.1 | 7 | 1064 | 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 ACSM5 GP2 PDILT |
dgv4942n54 | Chr.16:20340615 - 20466152 on Build GRCh38 | Gain | UMOD ACSM5 PDILT ACSM2A |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | PDILT ACSM1 CRYM-AS1 CRYM GPRC5B ERI2 CLEC19A TMEM159 IQCK ACSM2B NPIPB3 DNAH3 COQ7 GDE1 ACSM3 SNX29P1 ITPRIPL2 KNOP1 ACSM5 GP2 DCUN1D3 LOC102723385 GPR139 ANKS4B LOC100190986 LOC81691 SMG1P3 TMC5 ZP2 C16orf62 UMOD TMC7 LYRM1 SYT17 CCP110 THUMPD1 ACSM2A |
nsv1759 | Chr.16:20339264 - 20373446 on Build GRCh38 | Insertion | UMOD PDILT |
esv3638138 | Chr.16:20348867 - 20489664 on Build GRCh38 | Gain | UMOD ACSM5 PDILT ACSM2A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |