Hs00275762_cn

• Gene Symbol: DEFA4
• Assay Reference Genome Location: Chr.8:6936089 on build GRCh38
• Cytoband: 8p23.1

Target Gene Details

• Entrez Gene ID: 1669
• Gene Name: defensin alpha 4
• Gene Aliases: DEF4, HNP-4, HP-4, HP4
• Location: Chr.8:6935820-6938338 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEFA4	NM_001925.2			NP_001916.1
	BC093959.1			AAH93959.1
	BC106747.2			AAI06748.1
	BC112091.1			AAI12092.1
	BU616655.1
	DN998607.1
	X65977.1			CAA46792.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1021684	Chr.8:6492570 - 6951933 on Build GRCh38	Loss	MIR8055 DEFA4 MCPH1-AS1 GS1-24F4.2 ANGPT2 AGPAT5 DEFA8P MIR4659B MCPH1 MIR4659A DEFA6 XKR5 DEFB1
nsv1019061	Chr.8:6932720 - 6968014 on Build GRCh38	Loss	DEFA4 DEFA8P DEFA9P
nsv528374	Chr.8:6873981 - 7063882 on Build GRCh38	Gain	DEFA11P DEFA4 DEFT1P DEFA5 DEFA8P DEFA9P DEFA10P DEFA7P DEFT1P2 DEFA3 DEFA6 DEFA1 DEFA1B DEFB1
nsv524367	Chr.8:6933188 - 6971563 on Build GRCh38	Loss	DEFA4 DEFA8P DEFA9P DEFA10P
esv3576520	Chr.8:6794391 - 7186524 on Build GRCh38	Gain	DEFA11P DEFA4 DEFT1P GS1-24F4.2 DEFA5 DEFA8P DEFA9P DEFA10P DEFA7P DEFT1P2 DEFA3 DEFA6 XKR5 DEFA1 DEFA1B DEFB1
nsv428194	Chr.8:6871593 - 8317524 on Build GRCh38	Gain+Loss	FAM66E ZNF705B DEFB4A SPAG11A DEFA10P DEFB104B DEFA3 DEFA6 PRR23D2 DEFB1 FAM90A7P DEFA4 DEFA8P DEFA9P SPAG11B USP17L3 ZNF705G DEFB105A DEFB107A PRR23D1 OR7E125P FAM90A10P USP17L4 DEFA5 DEFB107B DEFB108P1 DEFB105B FAM66B LOC101928095 FAM86B3P LOC101929400 LINC00965 DEFB4B DEFA1 DEFA11P DEFB106A DEFB106B DEFT1P MIR548I3 DEFB104A DEFB109P1B USP17L8 DEFB103A LOC107986910 DEFB103B USP17L1 DEFA7P OR7E154P DEFT1P2 DEFA1B
nsv610010	Chr.8:6870776 - 7068347 on Build GRCh38	Gain	DEFA11P DEFA4 DEFT1P DEFA5 DEFA8P DEFA9P DEFA10P DEFA7P DEFT1P2 DEFA3 DEFA6 DEFA1 DEFA1B DEFB1
dgv6878n100	Chr.8:6712833 - 7392846 on Build GRCh38	Gain	OR7E125P USP17L4 DEFA5 DEFA10P MIR4659B FAM66B LOC101928095 DEFA3 DEFA6 LINC00965 XKR5 DEFA1 DEFB1 DEFA11P DEFA4 DEFT1P DEFB109P1B GS1-24F4.2 AGPAT5 DEFA8P DEFA9P USP17L1 ZNF705G DEFA7P DEFT1P2 MIR4659A DEFA1B
dgv2030e212	Chr.8:6934193 - 6940758 on Build GRCh38	Loss	DEFA4
esv2759589	Chr.8:6874198 - 8449233 on Build GRCh38	Gain+Loss	FAM66E ZNF705B DEFB4A SPAG11A DEFA10P DEFB104B DEFA3 DEFA6 PRR23D2 DEFB1 FAM90A7P DEFA4 DEFA8P DEFA9P SPAG11B USP17L3 ZNF705G DEFB105A DEFB107A PRR23D1 OR7E125P FAM90A10P USP17L4 DEFA5 DEFB107B DEFB108P1 DEFB105B FAM66B LOC101928095 FAM86B3P LOC101929400 LINC00965 DEFB4B DEFA1 DEFA11P DEFB106A DEFB106B DEFT1P MIR548I3 DEFB104A DEFB109P1B USP17L8 SGK223 DEFB103A LOC107986910 DEFB103B USP17L1 DEFA7P OR7E154P DEFT1P2 DEFA1B
nsv1015244	Chr.8:6781378 - 7131392 on Build GRCh38	Gain	DEFA11P DEFA4 DEFT1P GS1-24F4.2 DEFA5 DEFA8P DEFA9P DEFA10P DEFA7P DEFT1P2 DEFA3 DEFA6 XKR5 DEFA1 DEFA1B DEFB1
dgv11906n54	Chr.8:6934054 - 6936878 on Build GRCh38	Loss	DEFA4
nsv831221	Chr.8:6896698 - 7078990 on Build GRCh38	Gain	DEFA11P DEFA4 DEFT1P DEFA5 DEFA8P DEFA9P DEFA10P DEFA7P DEFT1P2 DEFA3 DEFA6 DEFA1 DEFA1B
esv2662366	Chr.8:6933348 - 6940517 on Build GRCh38	Deletion	DEFA4
esv3616103	Chr.8:6933457 - 6940632 on Build GRCh38	Loss	DEFA4
esv2764078	Chr.8:6934037 - 6954727 on Build GRCh38	Loss	DEFA4 DEFA8P
nsv509248	Chr.8:6921313 - 6979349 on Build GRCh38	Insertion	DEFA4 DEFA6 DEFA1 DEFA8P DEFA9P DEFA10P
nsv465436	Chr.8:6710680 - 7063882 on Build GRCh38	Gain	DEFA11P DEFA4 DEFT1P GS1-24F4.2 DEFA5 AGPAT5 DEFA8P DEFA9P DEFA10P MIR4659B DEFA7P DEFT1P2 MIR4659A DEFA3 DEFA6 XKR5 DEFA1 DEFA1B DEFB1
dgv1199e201	Chr.8:6933373 - 6940684 on Build GRCh38	Deletion	DEFA4
nsv610007	Chr.8:6797870 - 6971563 on Build GRCh38	Gain	DEFA4 GS1-24F4.2 DEFA6 XKR5 DEFA8P DEFA9P DEFB1 DEFA10P

More Information

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

Panther Classification:

Molecular Function -

antimicrobial response protein

Gene Ontology Categories:

Process(es)

antimicrobial humoral response
antibacterial humoral response
killing of cells of other organism
innate immune response
defense response to Gram-negative bacterium
defense response to Gram-positive bacterium
defense response to fungus