Hs03347283_cn

• Gene Symbol: REG4
• Assay Reference Genome Location: Chr.1:119800833 on build GRCh38
• Cytoband: 1p12

Target Gene Details

• Entrez Gene ID: 83998
• Gene Name: regenerating family member 4
• Gene Aliases: GISP, REG-IV, RELP
• Location: Chr.1:119794018-119811580 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
REG4	NM_001159352.1			NP_001152824.1
	NM_032044.3			NP_114433.1
	AF254415.1			AAK48435.1
	AF345934.1			AAK59869.1
	AY007243.1			AAG02562.1
	AY126670.1			AAM95598.1
	AY126671.1			AAM95599.1
	BC017089.2			AAH17089.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831226	Chr.1:119788976 - 119980845 on Build GRCh38	Gain+Loss	NOTCH2 NBPF7 REG4 ADAM30
nsv831215	Chr.1:119723826 - 119905846 on Build GRCh38	Gain	HMGCS2 PHGDH NBPF7 REG4 ADAM30
nsv524681	Chr.1:118890895 - 121570001 on Build GRCh38	Gain	SRGAP2-AS1 SRGAP2C LOC105378933 FAM72B NBPF7 LOC100996721 EMBP1 LINC00622 LOC101929796 NBPF8 LOC100996318 WARS2 LOC100996720 LINC00623 ZNF697 HAO2 NOTCH2 HSD3B1 RNVU1-19 PFN1P2 NBPF26 HAO2-IT1 SEC22B REG4 TBX15 HSD3BP4 PHGDH ADAM30 LOC105369199 FCGR1B HSD3B2 RNVU1-4 HMGCS2 LOC101929147 HIST2H2BA WARS2-IT1 PPIAL4A LOC101929798 LOC100996724
nsv428201	Chr.1:119724690 - 120154589 on Build GRCh38	Gain	NOTCH2 HMGCS2 PHGDH NBPF7 SEC22B REG4 ADAM30

More Information

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

Gene Ontology Categories:

Function(s)

calcium ion binding
heparin binding
mannan binding