Hs01829604_cn

• Gene Symbol: DEFA6
• Assay Reference Genome Location: Chr.8:6924848 on build GRCh38
• Cytoband: 8p23.1

Target Gene Details

• Entrez Gene ID: 1671
• Gene Name: defensin alpha 6
• Gene Aliases: DEF6, HD-6
• Location: Chr.8:6924694-6926076 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEFA6	NM_001926.3	2	314	NP_001917.1
	BC069667.1	2	314	AAH69667.1
	BC069710.1	2	314	AAH69710.1
	BC069728.1	2	314	AAH69728.1
	BC069769.1	2	316	AAH69769.1
	BC093951.1	2	294	AAH93951.1
	BC093953.1	2	294	AAH93953.1
	BM855691.1
	M98331.1	2	291	AAB59357.1

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	DEFA4 MIR4659B MIR4659A XKR5 AGPAT5 GS1-24F4.2 ANGPT2 MIR8055 DEFA8P DEFB1 MCPH1-AS1 DEFA6 MCPH1
nsv831221	Chr.8:6896698 - 7078990 on Build GRCh38	Gain	DEFA1 DEFA10P DEFA4 DEFT1P DEFA5 DEFA11P DEFA3 DEFA7P DEFA8P DEFT1P2 DEFA6 DEFA9P DEFA1B
nsv528374	Chr.8:6873981 - 7063882 on Build GRCh38	Gain	DEFA1 DEFA10P DEFA4 DEFT1P DEFA5 DEFA11P DEFA3 DEFA7P DEFA8P DEFB1 DEFT1P2 DEFA6 DEFA9P DEFA1B
esv3576520	Chr.8:6794391 - 7186524 on Build GRCh38	Gain	DEFA1 DEFA10P DEFA4 XKR5 DEFT1P DEFA5 DEFA11P DEFA3 GS1-24F4.2 DEFA7P DEFA8P DEFB1 DEFT1P2 DEFA6 DEFA9P DEFA1B
nsv428194	Chr.8:6871593 - 8317524 on Build GRCh38	Gain+Loss	DEFA4 FAM66E DEFT1P OR7E154P DEFB104B USP17L8 LOC107986910 OR7E125P FAM86B3P SPAG11B LOC101928095 DEFA10P DEFB105B FAM66B PRR23D2 DEFA5 DEFA11P DEFB105A DEFA8P DEFB1 DEFT1P2 DEFA6 FAM90A10P DEFB106B DEFB107A FAM90A7P DEFB104A DEFA7P LINC00965 DEFB103B USP17L4 DEFA9P DEFB109P1B DEFB107B USP17L3 DEFA1 ZNF705B USP17L1 DEFB106A DEFB103A ZNF705G DEFA3 DEFB4A MIR548I3 LOC101929400 DEFB108P1 PRR23D1 DEFB4B SPAG11A DEFA1B
nsv610010	Chr.8:6870776 - 7068347 on Build GRCh38	Gain	DEFA1 DEFA10P DEFA4 DEFT1P DEFA5 DEFA11P DEFA3 DEFA7P DEFA8P DEFB1 DEFT1P2 DEFA6 DEFA9P DEFA1B
nsv509248	Chr.8:6921313 - 6979349 on Build GRCh38	Insertion	DEFA1 DEFA10P DEFA4 DEFA8P DEFA6 DEFA9P
nsv465436	Chr.8:6710680 - 7063882 on Build GRCh38	Gain	DEFA1 DEFA10P DEFA4 MIR4659B MIR4659A XKR5 DEFT1P AGPAT5 DEFA5 DEFA11P DEFA3 GS1-24F4.2 DEFA7P DEFA8P DEFB1 DEFT1P2 DEFA6 DEFA9P DEFA1B
dgv6878n100	Chr.8:6712833 - 7392846 on Build GRCh38	Gain	DEFA4 MIR4659B MIR4659A XKR5 DEFT1P DEFA7P OR7E125P LINC00965 USP17L4 DEFA9P DEFB109P1B LOC101928095 DEFA1 DEFA10P FAM66B USP17L1 AGPAT5 ZNF705G DEFA5 DEFA11P DEFA3 GS1-24F4.2 DEFA8P DEFB1 DEFT1P2 DEFA6 DEFA1B
nsv610007	Chr.8:6797870 - 6971563 on Build GRCh38	Gain	DEFA10P GS1-24F4.2 DEFA4 DEFA8P XKR5 DEFB1 DEFA6 DEFA9P
esv2759589	Chr.8:6874198 - 8449233 on Build GRCh38	Gain+Loss	DEFA4 FAM66E DEFT1P OR7E154P DEFB104B USP17L8 LOC107986910 OR7E125P FAM86B3P SPAG11B LOC101928095 DEFA10P DEFB105B FAM66B PRR23D2 DEFA5 DEFA11P DEFB105A DEFA8P SGK223 DEFB1 DEFT1P2 DEFA6 FAM90A10P DEFB106B DEFB107A FAM90A7P DEFB104A DEFA7P LINC00965 DEFB103B USP17L4 DEFA9P DEFB109P1B DEFB107B USP17L3 DEFA1 ZNF705B USP17L1 DEFB106A DEFB103A ZNF705G DEFA3 DEFB4A MIR548I3 LOC101929400 DEFB108P1 PRR23D1 DEFB4B SPAG11A DEFA1B
nsv1015244	Chr.8:6781378 - 7131392 on Build GRCh38	Gain	DEFA1 DEFA10P DEFA4 XKR5 DEFT1P DEFA5 DEFA11P DEFA3 GS1-24F4.2 DEFA7P DEFA8P DEFB1 DEFT1P2 DEFA6 DEFA9P DEFA1B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

antimicrobial response protein

Gene Ontology Categories:

Process(es)

antibacterial humoral response
killing of cells of other organism
innate immune response
defense response to fungus

Function(s)

protein binding