Assay Details
Target Gene Details
Entrez Gene ID: | 65263 |
Gene Name: | pyrroline-5-carboxylate reductase-like |
Gene Aliases: |
PYCR3 |
Location: |
Chr.8:143603913-143609614 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PYCRL | NM_023078.3 | NP_075566.2 | ||
AK001500.2 | ||||
AK023914.1 | BAB14721.1 | |||
AK225404.1 | ||||
AK294615.1 | ||||
AK295444.1 | ||||
AK301225.1 | ||||
BC007993.1 | AAH07993.1 | |||
DA403767.1 | ||||
DA629534.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470247 | Chr.8:143283403 - 143615483 on Build GRCh38 | Loss | EEF1D RHPN1 PYCRL TIGD5 NAPRT MAFA MAFA-AS1 TSTA3 TOP1MT MROH6 RHPN1-AS1 ZC3H3 GSDMD ZNF696 |
dgv12418n54 | Chr.8:143574584 - 143611897 on Build GRCh38 | Loss | NAPRT EEF1D PYCRL TIGD5 |
nsv1161810 | Chr.8:143542268 - 143622987 on Build GRCh38 | Deletion | NAPRT TSTA3 EEF1D MROH6 ZC3H3 GSDMD PYCRL TIGD5 |
nsv612793 | Chr.8:143552167 - 143630578 on Build GRCh38 | Loss | NAPRT TSTA3 EEF1D MROH6 GSDMD PYCRL TIGD5 |
dgv12410n54 | Chr.8:143533025 - 143611897 on Build GRCh38 | Loss | NAPRT EEF1D MROH6 ZC3H3 GSDMD PYCRL TIGD5 |
nsv1161809 | Chr.8:143467990 - 143610108 on Build GRCh38 | Deletion | NAPRT EEF1D MROH6 ZC3H3 GSDMD PYCRL TIGD5 |
nsv950013 | Chr.8:143465031 - 143616230 on Build GRCh38 | Deletion | NAPRT TSTA3 EEF1D MROH6 ZC3H3 GSDMD PYCRL TIGD5 |
nsv612777 | Chr.8:143538914 - 143632493 on Build GRCh38 | Gain | NAPRT TSTA3 EEF1D MROH6 ZC3H3 GSDMD PYCRL TIGD5 |
nsv6439 | Chr.8:143606519 - 143651282 on Build GRCh38 | Deletion | TSTA3 ZNF623 PYCRL |
dgv7336n100 | Chr.8:143510004 - 143616975 on Build GRCh38 | Gain | NAPRT TSTA3 EEF1D MROH6 ZC3H3 GSDMD PYCRL TIGD5 |
dgv271n111 | Chr.8:143601764 - 143642893 on Build GRCh38 | Deletion | TSTA3 ZNF623 PYCRL |
nsv612813 | Chr.8:143566472 - 143611669 on Build GRCh38 | Loss | NAPRT EEF1D MROH6 PYCRL TIGD5 |
nsv831488 | Chr.8:143590454 - 143684444 on Build GRCh38 | Loss | TSTA3 EEF1D ZNF623 PYCRL TIGD5 |
nsv466004 | Chr.8:143581491 - 143640022 on Build GRCh38 | Loss | TSTA3 EEF1D ZNF623 PYCRL TIGD5 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |