Hs00120193_cn

• Gene Symbol: HP
• Assay Reference Genome Location: Chr.16:72056297 on build GRCh38
• Cytoband: 16q22.2

Target Gene Details

• Entrez Gene ID: 3240
• Gene Name: haptoglobin
• Gene Aliases: BP, HP2ALPHA2, HPA1S
• Location: Chr.16:72054592-72061056 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HP	NM_001126102.2			NP_001119574.1
	NM_001318138.1			NP_001305067.1
	NM_005143.4			NP_005134.1
	AK055872.1	1	1672
	AK314700.1
	BC017862.1
	BC058031.1			AAH58031.1
	BC070299.1			AAH70299.1
	BC107587.1			AAI07588.1
	BC121124.1
	BC121125.1
	BJ994335.1
	CB117006.1
	CB134891.1
	K00422.1			AAA52687.1
	K01763.1			AAA52684.1
	L29394.1			AAA52685.1
	X00637.1			CAA25267.1

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	TXNL4B HP HPR
esv2714683	Chr.16:71950823 - 72151945 on Build GRCh38	Deletion	PMFBP1 TXNL4B DHODH DHX38 PKD1L3 HP HPR
dgv3017n100	Chr.16:72040933 - 72757730 on Build GRCh38	Gain	LOC107984814 PMFBP1 LINC01572 TXNL4B DHX38 HP HPR
nsv833273	Chr.16:71937902 - 72118955 on Build GRCh38	Loss	PMFBP1 TXNL4B DHODH DHX38 PKD1L3 HP HPR
esv3638989	Chr.16:72046969 - 72065087 on Build GRCh38	Loss	TXNL4B HP HPR
esv2478287	Chr.16:72054766 - 72064976 on Build GRCh38	Deletion	TXNL4B HP HPR
esv2215660	Chr.16:72054699 - 72063557 on Build GRCh38	Deletion	TXNL4B HP HPR
nsv978167	Chr.16:72054423 - 72084772 on Build GRCh38	Duplication	TXNL4B HP HPR
nsv827729	Chr.16:72049820 - 72076352 on Build GRCh38	Loss	TXNL4B HP HPR
esv2758654	Chr.16:71942441 - 72240448 on Build GRCh38	Gain	PMFBP1 TXNL4B DHODH DHX38 PKD1L3 HP HPR
nsv9456	Chr.16:72050862 - 72084423 on Build GRCh38	Gain+Loss	TXNL4B HP HPR
esv23639	Chr.16:72054601 - 72078398 on Build GRCh38	Gain+Loss	TXNL4B HP HPR
esv2422047	Chr.16:72053111 - 72074194 on Build GRCh38	Duplication	TXNL4B HP HPR
esv2714685	Chr.16:72054836 - 72063593 on Build GRCh38	Deletion	TXNL4B HP HPR
esv3892884	Chr.16:72054432 - 72074194 on Build GRCh38	Loss	TXNL4B HP HPR

More Information

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

Panther Classification:

Molecular Function -

serine protease, oxidoreductase

Gene Ontology Categories:

Process(es)

immune system process
receptor-mediated endocytosis
defense response
acute-phase response
positive regulation of cell death
response to hydrogen peroxide
defense response to bacterium
negative regulation of oxidoreductase activity
cellular oxidant detoxification
negative regulation of hydrogen peroxide catabolic process
spliceosomal complex assembly
cell cycle

Function(s)

protein binding
antioxidant activity
hemoglobin binding