Assay Details
Target Gene Details
Entrez Gene ID: | 5034 |
Gene Name: | prolyl 4-hydroxylase subunit beta |
Gene Aliases: |
CLCRP1, DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB |
Location: |
Chr.17:81843158-81860668 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P4HB | NM_000918.3 | 11 | 1907 | NP_000909.2 |
AB062434.1 | 2 | 355 | BAB93497.1 | |
AK095938.1 | 11 | 1785 | ||
AK128783.1 | 8 | 1155 | ||
AK297081.1 | ||||
AK297967.1 | 10 | 1727 | ||
BC010859.1 | 11 | 1754 | AAH10859.1 | |
BC014504.1 | 7 | 1006 | ||
BC029617.1 | 11 | 1754 | AAH29617.1 | |
BC071892.1 | 11 | 1713 | AAH71892.1 | |
CA412209.1 | ||||
J02783.1 | 11 | 1773 | AAA61169.1 | |
X05130.1 | 11 | 1739 | CAA28775.1 | |
X07077.1 | 5 | 834 | CAA30112.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain | PDE6G STRA13 C17orf89 TEX19 SIRT7 LOC105376791 ANAPC11 RAB40B FAAP100 LOC105371925 MIR3186 OGFOD3 CCDC57 UTS2R MIR6787 SLC38A10 WDR45B PYCR1 NARF ALYREF RFNG GPS1 TSPAN10 TBCD ARHGDIA FASN CEP131 SLC25A10 PPP1R27 ARL16 NPB NOTUM DCXR MAFG MRPL12 MAFG-AS1 MIR6786 FOXK2 MYADML2 ACTG1 LOC105371944 AATK-AS1 LRRC45 MCRIP1 HGS FN3KRP PCYT2 BAHCC1 LOC101929552 DUS1L CCDC137 B3GNTL1 CSNK1D TMEM105 LINC00482 CD7 MIR4525 LOC101929511 ASPSCR1 RAC3 GCGR P4HB LOC100130370 FN3K NPLOC4 LOC105376790 HEXDC C17orf62 SNORD134 MIR4740 TEPSIN AATK OXLD1 FSCN2 ZNF750 SECTM1 SLC16A3 |
nsv470620 | Chr.17:81516973 - 82064485 on Build GRCh38 | Loss | MAFG-AS1 MIR6786 MYADML2 PDE6G STRA13 LRRC45 SIRT7 ANAPC11 MCRIP1 HGS PCYT2 FAAP100 DUS1L CCDC137 ASPSCR1 PYCR1 RAC3 GCGR P4HB ALYREF RFNG GPS1 NPLOC4 TSPAN10 ARHGDIA SLC25A10 PPP1R27 ARL16 NPB NOTUM DCXR OXLD1 FSCN2 MAFG MRPL12 |
nsv952390 | Chr.17:81637175 - 81860124 on Build GRCh38 | Deletion | MIR6786 PDE6G GCGR P4HB MCRIP1 TSPAN10 HGS SLC25A10 PPP1R27 ARL16 OXLD1 CCDC137 MRPL12 |
nsv833569 | Chr.17:81838937 - 82011412 on Build GRCh38 | Loss | MAFG-AS1 ASPSCR1 MYADML2 PYCR1 P4HB SIRT7 ALYREF ANAPC11 ARHGDIA PCYT2 NPB NOTUM MAFG |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | STRA13 TEX19 SIRT7 LOC105376791 ANAPC11 RAB40B METRNL OGFOD3 CCDC57 UTS2R MIR6787 WDR45B PYCR1 NARF ALYREF RFNG GPS1 TBCD ARHGDIA FASN PPP1R27 NPB NOTUM DCXR MAFG MAFG-AS1 FOXK2 MYADML2 LOC105371944 LRRC45 MCRIP1 FN3KRP PCYT2 LOC101929552 DUS1L B3GNTL1 CSNK1D CD7 MIR4525 LOC101929511 ASPSCR1 RAC3 P4HB FN3K LOC105376790 HEXDC C17orf62 SNORD134 ZNF750 SECTM1 SLC16A3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |