Hs07499883_cn

• Gene Symbol: P4HB
• Assay Reference Genome Location: Chr.17:81844157 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: Overlaps Intron 10 - Exon 11

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	ARHGDIA MIR6787 ACTG1 RFNG CSNK1D ANAPC11 TEX19 LOC105376791 SECTM1 ASPSCR1 GCGR OXLD1 LOC105371925 PYCR1 NPLOC4 LRRC45 P4HB CEP131 NPB C17orf62 MAFG-AS1 STRA13 OGFOD3 FSCN2 MYADML2 SLC38A10 GPS1 ARL16 TMEM105 AATK-AS1 BAHCC1 FN3KRP ZNF750 ALYREF TBCD MRPL12 FN3K MIR6786 MIR4525 DCXR TSPAN10 HEXDC WDR45B SLC16A3 CD7 UTS2R LOC105376790 FASN FAAP100 NARF LOC100130370 MCRIP1 PCYT2 RAB40B B3GNTL1 NOTUM AATK LOC101929511 RAC3 LINC00482 MIR4740 LOC105371944 FOXK2 SLC25A10 PPP1R27 SNORD134 TEPSIN C17orf89 HGS MIR3186 MAFG SIRT7 PDE6G CCDC57 DUS1L LOC101929552 CCDC137
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	ARHGDIA RFNG ANAPC11 ASPSCR1 FAAP100 GCGR OXLD1 MCRIP1 PYCR1 NPLOC4 LRRC45 PCYT2 NOTUM P4HB NPB MAFG-AS1 STRA13 FSCN2 MYADML2 RAC3 GPS1 ARL16 SLC25A10 PPP1R27 HGS ALYREF MAFG SIRT7 PDE6G MRPL12 DUS1L MIR6786 CCDC137 DCXR TSPAN10
nsv952390	Chr.17:81637175 - 81860124 on Build GRCh38	Deletion	ARL16 SLC25A10 PPP1R27 HGS GCGR OXLD1 PDE6G MRPL12 MCRIP1 MIR6786 P4HB CCDC137 TSPAN10
nsv833569	Chr.17:81838937 - 82011412 on Build GRCh38	Loss	ARHGDIA ANAPC11 MYADML2 ASPSCR1 ALYREF MAFG SIRT7 PYCR1 PCYT2 NOTUM P4HB NPB MAFG-AS1
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	ARHGDIA MIR6787 RFNG CSNK1D ANAPC11 TEX19 LOC105376791 SECTM1 ASPSCR1 PYCR1 LRRC45 P4HB NPB C17orf62 MAFG-AS1 STRA13 OGFOD3 MYADML2 GPS1 FN3KRP ZNF750 ALYREF TBCD FN3K MIR4525 DCXR HEXDC WDR45B SLC16A3 CD7 UTS2R LOC105376790 FASN NARF MCRIP1 PCYT2 RAB40B B3GNTL1 NOTUM LOC101929511 RAC3 LOC105371944 FOXK2 PPP1R27 SNORD134 MAFG SIRT7 CCDC57 METRNL DUS1L LOC101929552

More Information

Additional Information:

For this assay, SNP(s) [rs112897683,rs138348620] 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, 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