Hs04458994_cn

• Gene Symbol: HPR
• Assay Reference Genome Location: Chr.16:72073477 on build GRCh38
• Cytoband: 16q22.2

Target Gene Details

• Entrez Gene ID: 3250
• Gene Name: haptoglobin-related protein
• Gene Aliases: A-259H10.2, HP
• Location: Chr.16:72063226-72077246 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPR	NM_020995.3			NP_066275.3
	AV698541.1
	CB115435.1
	CB147217.1
	T71114.1

Target Gene Details

• Entrez Gene ID: 54957
• Gene Name: thioredoxin like 4B
• Gene Aliases: DLP, Dim2
• Location: Chr.16:72044261-72094316 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TXNL4B	XM_017023377.1			XP_016878866.1
	AK308891.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv504e199	Chr.16:72049451 - 72076250 on Build GRCh38	Deletion	HP HPR TXNL4B
nsv1864	Chr.16:72064069 - 72084058 on Build GRCh38	Insertion	HPR TXNL4B
nsv436836	Chr.16:72064307 - 72074191 on Build GRCh38	Insertion	HPR TXNL4B
dgv1636e59	Chr.16:72059952 - 72078350 on Build GRCh38	Duplication	HP HPR TXNL4B
esv2714683	Chr.16:71950823 - 72151945 on Build GRCh38	Deletion	DHX38 DHODH HP PKD1L3 HPR PMFBP1 TXNL4B
dgv3017n100	Chr.16:72040933 - 72757730 on Build GRCh38	Gain	DHX38 LOC107984814 HP HPR LINC01572 PMFBP1 TXNL4B
nsv833273	Chr.16:71937902 - 72118955 on Build GRCh38	Loss	DHX38 DHODH HP PKD1L3 HPR PMFBP1 TXNL4B
nsv978167	Chr.16:72054423 - 72084772 on Build GRCh38	Duplication	HP HPR TXNL4B
nsv572951	Chr.16:72057155 - 72077447 on Build GRCh38	Gain	HP HPR TXNL4B
nsv827729	Chr.16:72049820 - 72076352 on Build GRCh38	Loss	HP HPR TXNL4B
esv3638992	Chr.16:72060628 - 72077062 on Build GRCh38	Loss	HP HPR TXNL4B
esv2758654	Chr.16:71942441 - 72240448 on Build GRCh38	Gain	DHX38 DHODH HP PKD1L3 HPR PMFBP1 TXNL4B
nsv9456	Chr.16:72050862 - 72084423 on Build GRCh38	Gain+Loss	HP HPR TXNL4B
esv23639	Chr.16:72054601 - 72078398 on Build GRCh38	Gain+Loss	HP HPR TXNL4B
esv2422047	Chr.16:72053111 - 72074194 on Build GRCh38	Duplication	HP HPR TXNL4B
esv3892884	Chr.16:72054432 - 72074194 on Build GRCh38	Loss	HP HPR TXNL4B

More Information

Additional Information:

For this assay, SNP(s) [rs113186879] 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 -

serine protease, oxidoreductase

Gene Ontology Categories:

Process(es)

positive regulation of defense response to virus by host
receptor-mediated endocytosis
mitophagy in response to mitochondrial depolarization
xenophagy
spliceosomal complex assembly
cell cycle

Function(s)

hemoglobin binding
protein binding