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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
P4HB | NM_000918.3 | 7 | 1180 | NP_000909.2 |
AK095938.1 | 7 | 1058 | ||
AK128783.1 | 4 | 428 | ||
AK297081.1 | 7 | 906 | ||
AK297967.1 | 6 | 1000 | ||
AK298005.1 | 6 | 936 | ||
AK300561.1 | 6 | 910 | ||
AK308600.1 | 5 | 835 | ||
AK315631.1 | 7 | 1011 | ||
BC010859.1 | 7 | 1027 | AAH10859.1 | |
BC014504.1 | 3 | 279 | ||
BC029617.1 | 7 | 1027 | AAH29617.1 | |
BC071892.1 | 7 | 986 | AAH71892.1 | |
CA412209.1 | ||||
J02783.1 | 7 | 1046 | AAA61169.1 | |
X05130.1 | 7 | 1012 | CAA28775.1 | |
X07077.1 | 1 | 107 | 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 | GPS1 MIR4525 ARL16 OXLD1 LRRC45 ASPSCR1 DUS1L FOXK2 MCRIP1 CD7 CSNK1D WDR45B TSPAN10 RAB40B TBCD NOTUM DCXR PDE6G ARHGDIA C17orf62 ALYREF MAFG SLC38A10 HGS SIRT7 ANAPC11 MIR3186 TEPSIN CCDC137 CCDC57 NPB LOC100130370 FN3K NARF MIR6786 MYADML2 HEXDC LOC105376790 LINC00482 TEX19 GCGR NPLOC4 LOC105371944 MIR6787 CEP131 RFNG TMEM105 SLC25A10 P4HB STRA13 FSCN2 UTS2R MAFG-AS1 FASN LOC101929552 FN3KRP PYCR1 BAHCC1 LOC105376791 B3GNTL1 SECTM1 SNORD134 PCYT2 LOC105371925 PPP1R27 MIR4740 ZNF750 OGFOD3 AATK C17orf89 SLC16A3 RAC3 ACTG1 FAAP100 LOC101929511 MRPL12 AATK-AS1 |
nsv470620 | Chr.17:81516973 - 82064485 on Build GRCh38 | Loss | GPS1 ARL16 OXLD1 GCGR NPLOC4 LRRC45 ASPSCR1 DUS1L RFNG MCRIP1 SLC25A10 P4HB STRA13 TSPAN10 NOTUM DCXR PDE6G FSCN2 ARHGDIA ALYREF MAFG HGS MAFG-AS1 SIRT7 ANAPC11 CCDC137 NPB PYCR1 PCYT2 MIR6786 PPP1R27 MYADML2 RAC3 FAAP100 MRPL12 |
nsv952390 | Chr.17:81637175 - 81860124 on Build GRCh38 | Deletion | HGS ARL16 OXLD1 GCGR CCDC137 MCRIP1 SLC25A10 MIR6786 PPP1R27 P4HB TSPAN10 PDE6G MRPL12 |
nsv833569 | Chr.17:81838937 - 82011412 on Build GRCh38 | Loss | MAFG-AS1 SIRT7 ANAPC11 ASPSCR1 NPB PYCR1 PCYT2 MYADML2 P4HB NOTUM ARHGDIA ALYREF MAFG |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | GPS1 MIR4525 LRRC45 ASPSCR1 DUS1L FOXK2 MCRIP1 CD7 CSNK1D WDR45B RAB40B TBCD NOTUM DCXR ARHGDIA C17orf62 ALYREF MAFG SIRT7 ANAPC11 METRNL CCDC57 NPB FN3K NARF MYADML2 HEXDC LOC105376790 TEX19 LOC105371944 MIR6787 RFNG P4HB STRA13 UTS2R MAFG-AS1 FASN LOC101929552 FN3KRP PYCR1 LOC105376791 B3GNTL1 SECTM1 SNORD134 PCYT2 PPP1R27 ZNF750 OGFOD3 SLC16A3 RAC3 LOC101929511 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |