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

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