Hs07501616_cn

• Gene Symbol: P4HB
• Assay Reference Genome Location: Chr.17:81844668 on build GRCh38
• Cytoband: 17q25.3

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 Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P4HB	NM_000918.3			NP_000909.2
	AB062434.1			BAB93497.1
	AK095938.1
	AK128783.1
	AK297081.1
	AK297967.1
	AK300561.1
	AK315631.1
	BC010859.1			AAH10859.1
	BC014504.1
	BC029617.1			AAH29617.1
	BC071892.1			AAH71892.1
	CA412209.1
	J02783.1			AAA61169.1
	X05130.1			CAA28775.1
	X07077.1			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	SNORD134 RAB40B ARL16 CCDC137 LOC100130370 FN3KRP RFNG MIR6786 HGS NPLOC4 MIR4740 TEX19 LINC00482 C17orf89 LOC105376791 PDE6G ALYREF LRRC45 MCRIP1 PCYT2 MAFG NARF OGFOD3 CEP131 LOC105376790 HEXDC SIRT7 GCGR ACTG1 UTS2R SLC38A10 ASPSCR1 MIR3186 ZNF750 MIR6787 FOXK2 WDR45B LOC101929552 TEPSIN NOTUM TMEM105 FSCN2 BAHCC1 PPP1R27 MIR4525 DCXR FAAP100 AATK GPS1 LOC105371944 LOC105371925 CD7 NPB CSNK1D CCDC57 RAC3 PYCR1 ARHGDIA TSPAN10 C17orf62 DUS1L FASN OXLD1 SLC16A3 SECTM1 ANAPC11 LOC101929511 FN3K MRPL12 STRA13 B3GNTL1 MYADML2 P4HB MAFG-AS1 AATK-AS1 TBCD SLC25A10
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	PPP1R27 ARL16 DCXR FAAP100 GPS1 CCDC137 NPB RFNG MIR6786 HGS NPLOC4 RAC3 PYCR1 ARHGDIA TSPAN10 DUS1L PDE6G ALYREF LRRC45 MCRIP1 PCYT2 OXLD1 MAFG ANAPC11 SIRT7 GCGR MRPL12 STRA13 MYADML2 P4HB ASPSCR1 MAFG-AS1 NOTUM FSCN2 SLC25A10
nsv952390	Chr.17:81637175 - 81860124 on Build GRCh38	Deletion	PPP1R27 ARL16 GCGR CCDC137 MRPL12 MIR6786 HGS P4HB TSPAN10 PDE6G MCRIP1 OXLD1 SLC25A10
nsv833569	Chr.17:81838937 - 82011412 on Build GRCh38	Loss	MAFG ANAPC11 SIRT7 NPB MYADML2 P4HB ASPSCR1 MAFG-AS1 PYCR1 ARHGDIA NOTUM ALYREF PCYT2
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	SNORD134 RAB40B FN3KRP RFNG TEX19 LOC105376791 ALYREF LRRC45 MCRIP1 PCYT2 MAFG NARF OGFOD3 LOC105376790 HEXDC SIRT7 UTS2R ASPSCR1 ZNF750 MIR6787 FOXK2 WDR45B LOC101929552 NOTUM PPP1R27 MIR4525 DCXR GPS1 LOC105371944 CD7 NPB CSNK1D METRNL CCDC57 RAC3 PYCR1 ARHGDIA C17orf62 DUS1L FASN SLC16A3 SECTM1 ANAPC11 LOC101929511 FN3K STRA13 B3GNTL1 MYADML2 P4HB MAFG-AS1 TBCD

More Information

Additional Information:

For this assay, SNP(s) [rs116595956] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

response to reactive oxygen species
protein folding
peptidyl-proline hydroxylation to 4-hydroxy-L-proline
response to endoplasmic reticulum stress
lipoprotein biosynthetic process
cell redox homeostasis
positive regulation of viral entry into host cell
cellular response to hypoxia
regulation of oxidative stress-induced intrinsic apoptotic signaling pathway

Function(s)

protein disulfide isomerase activity
procollagen-proline 4-dioxygenase activity
integrin binding
protein binding
enzyme binding
poly(A) RNA binding
protein heterodimerization activity