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	MCPH1-AS1 XKR5 MCPH1 DEFA8P DEFA6 ANGPT2 MIR4659B MIR8055 GS1-24F4.2 DEFB1 AGPAT5 DEFA4 MIR4659A
nsv1019061	Chr.8:6932720 - 6968014 on Build GRCh38	Loss	DEFA9P DEFA8P DEFA4
nsv528374	Chr.8:6873981 - 7063882 on Build GRCh38	Gain	DEFA9P DEFA10P DEFA7P DEFT1P DEFA11P DEFA8P DEFA5 DEFA6 DEFA1B DEFA3 DEFT1P2 DEFB1 DEFA4 DEFA1
nsv524367	Chr.8:6933188 - 6971563 on Build GRCh38	Loss	DEFA9P DEFA10P DEFA8P DEFA4
esv3576520	Chr.8:6794391 - 7186524 on Build GRCh38	Gain	DEFA9P XKR5 DEFA10P DEFA7P DEFT1P DEFA11P DEFA8P DEFA5 DEFA6 DEFA1B DEFA3 DEFT1P2 GS1-24F4.2 DEFB1 DEFA4 DEFA1
nsv428194	Chr.8:6871593 - 8317524 on Build GRCh38	Gain+Loss	SPAG11A DEFB109P1B DEFA11P DEFT1P2 LINC00965 DEFB4B USP17L1 LOC107986910 DEFB107A DEFB104B ZNF705G DEFB107B FAM90A10P DEFT1P DEFB105A DEFB105B FAM66B DEFA3 OR7E125P DEFB104A DEFB103A SPAG11B DEFA7P FAM90A7P PRR23D2 USP17L4 DEFB106A DEFB103B LOC101928095 OR7E154P DEFB108P1 DEFB106B ZNF705B DEFA9P DEFA10P MIR548I3 FAM66E USP17L3 DEFA8P DEFA5 DEFA6 DEFA1B DEFB4A PRR23D1 FAM86B3P USP17L8 DEFB1 LOC101929400 DEFA4 DEFA1
nsv610010	Chr.8:6870776 - 7068347 on Build GRCh38	Gain	DEFA9P DEFA10P DEFA7P DEFT1P DEFA11P DEFA8P DEFA5 DEFA6 DEFA1B DEFA3 DEFT1P2 DEFB1 DEFA4 DEFA1
dgv2030e212	Chr.8:6934193 - 6940758 on Build GRCh38	Loss	DEFA4
nsv1031577	Chr.8:6712833 - 8008628 on Build GRCh38	Gain	SPAG11A DEFB109P1B DEFA11P DEFT1P2 LINC00965 DEFB4B USP17L1 MIR4659A LOC107986910 DEFB107A DEFB104B ZNF705G DEFB107B FAM90A10P DEFT1P DEFB105A DEFB105B FAM66B DEFA3 MIR4659B OR7E125P DEFB104A XKR5 DEFB103A SPAG11B DEFA7P FAM90A7P PRR23D2 USP17L4 DEFB106A DEFB103B LOC101928095 OR7E154P DEFB108P1 AGPAT5 DEFB106B ZNF705B DEFA9P DEFA10P FAM66E USP17L3 DEFA8P DEFA5 DEFA6 DEFA1B DEFB4A PRR23D1 GS1-24F4.2 USP17L8 DEFB1 LOC101929400 DEFA4 DEFA1
esv2759589	Chr.8:6874198 - 8449233 on Build GRCh38	Gain+Loss	SPAG11A DEFB109P1B DEFA11P DEFT1P2 LINC00965 DEFB4B USP17L1 LOC107986910 DEFB107A DEFB104B ZNF705G DEFB107B FAM90A10P DEFT1P SGK223 DEFB105A DEFB105B FAM66B DEFA3 OR7E125P DEFB104A DEFB103A SPAG11B DEFA7P FAM90A7P PRR23D2 USP17L4 DEFB106A DEFB103B LOC101928095 OR7E154P DEFB108P1 DEFB106B ZNF705B DEFA9P DEFA10P MIR548I3 FAM66E USP17L3 DEFA8P DEFA5 DEFA6 DEFA1B DEFB4A PRR23D1 FAM86B3P USP17L8 DEFB1 LOC101929400 DEFA4 DEFA1
esv2752262	Chr.8:6781378 - 7153553 on Build GRCh38	Gain	DEFA9P XKR5 DEFA10P DEFA7P DEFT1P DEFA11P DEFA8P DEFA5 DEFA6 DEFA1B DEFA3 DEFT1P2 GS1-24F4.2 DEFB1 DEFA4 DEFA1
dgv11906n54	Chr.8:6934054 - 6936878 on Build GRCh38	Loss	DEFA4
nsv831221	Chr.8:6896698 - 7078990 on Build GRCh38	Gain	DEFA9P DEFA10P DEFA7P DEFT1P DEFA11P DEFA8P DEFA5 DEFA6 DEFA1B DEFA3 DEFT1P2 DEFA4 DEFA1
esv2662366	Chr.8:6933348 - 6940517 on Build GRCh38	Deletion	DEFA4
esv2764078	Chr.8:6934037 - 6954727 on Build GRCh38	Loss	DEFA8P DEFA4
esv3616103	Chr.8:6933457 - 6940632 on Build GRCh38	Loss	DEFA4
nsv509248	Chr.8:6921313 - 6979349 on Build GRCh38	Insertion	DEFA9P DEFA10P DEFA8P DEFA4 DEFA6 DEFA1
nsv610006	Chr.8:6710680 - 7063882 on Build GRCh38	Gain	DEFA9P XKR5 DEFA10P DEFA7P DEFT1P DEFA11P DEFA8P DEFA5 DEFA6 DEFA1B DEFA3 MIR4659B DEFT1P2 GS1-24F4.2 DEFB1 AGPAT5 DEFA4 MIR4659A DEFA1
dgv1199e201	Chr.8:6933373 - 6940684 on Build GRCh38	Deletion	DEFA4
nsv465437	Chr.8:6797870 - 6971563 on Build GRCh38	Gain	DEFA9P XKR5 DEFA10P GS1-24F4.2 DEFB1 DEFA8P DEFA4 DEFA6

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