Hs00992775_cn

• Gene Symbol: DEFA6
• Assay Reference Genome Location: Chr.8:6925859 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: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEFA6	NM_001926.3			NP_001917.1
	BC069667.1			AAH69667.1
	BC069710.1			AAH69710.1
	BC069728.1			AAH69728.1
	BC069769.1			AAH69769.1
	BC093951.1			AAH93951.1
	BC093953.1			AAH93953.1
	M98331.1			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 DEFB1 MIR4659A XKR5 AGPAT5 MCPH1-AS1 DEFA6 GS1-24F4.2 MIR8055 ANGPT2 MCPH1 MIR4659B DEFA8P
nsv831221	Chr.8:6896698 - 7078990 on Build GRCh38	Gain	DEFA4 DEFA10P DEFA1B DEFA3 DEFA6 DEFA9P DEFA11P DEFA1 DEFA7P DEFA5 DEFT1P2 DEFA8P DEFT1P
nsv528374	Chr.8:6873981 - 7063882 on Build GRCh38	Gain	DEFA4 DEFB1 DEFA10P DEFA1B DEFA3 DEFA6 DEFA9P DEFA11P DEFA1 DEFA7P DEFA5 DEFT1P2 DEFA8P DEFT1P
esv3576520	Chr.8:6794391 - 7186524 on Build GRCh38	Gain	DEFA4 DEFB1 DEFA10P XKR5 DEFA1B DEFA3 DEFA6 GS1-24F4.2 DEFA9P DEFA11P DEFA1 DEFA7P DEFA5 DEFT1P2 DEFA8P DEFT1P
nsv428194	Chr.8:6871593 - 8317524 on Build GRCh38	Gain+Loss	DEFB104A USP17L3 DEFB106A ZNF705G SPAG11A DEFB106B DEFA7P MIR548I3 DEFB103B ZNF705B DEFT1P DEFB4A DEFA10P DEFA1B FAM86B3P DEFA6 DEFB109P1B DEFA11P DEFB104B DEFA5 OR7E154P DEFA8P DEFA4 DEFB1 USP17L1 FAM66E LOC101928095 LOC107986910 SPAG11B PRR23D1 DEFB4B FAM90A7P DEFB107B DEFA1 DEFB105A FAM90A10P DEFT1P2 DEFB108P1 USP17L4 DEFA3 OR7E125P DEFA9P PRR23D2 USP17L8 DEFB103A LINC00965 DEFB107A LOC101929400 DEFB105B FAM66B
nsv610010	Chr.8:6870776 - 7068347 on Build GRCh38	Gain	DEFA4 DEFB1 DEFA10P DEFA1B DEFA3 DEFA6 DEFA9P DEFA11P DEFA1 DEFA7P DEFA5 DEFT1P2 DEFA8P DEFT1P
nsv509248	Chr.8:6921313 - 6979349 on Build GRCh38	Insertion	DEFA4 DEFA1 DEFA10P DEFA6 DEFA9P DEFA8P
nsv465436	Chr.8:6710680 - 7063882 on Build GRCh38	Gain	DEFA4 DEFB1 MIR4659A DEFA10P XKR5 DEFA1B AGPAT5 DEFA3 DEFA6 GS1-24F4.2 DEFA9P DEFA11P DEFA1 DEFA7P MIR4659B DEFA5 DEFT1P2 DEFA8P DEFT1P
dgv6878n100	Chr.8:6712833 - 7392846 on Build GRCh38	Gain	DEFA4 DEFB1 MIR4659A USP17L1 LOC101928095 XKR5 ZNF705G DEFA1 DEFA7P DEFT1P2 DEFT1P DEFA10P USP17L4 DEFA1B AGPAT5 DEFA3 DEFA6 OR7E125P GS1-24F4.2 DEFA9P DEFB109P1B DEFA11P LINC00965 MIR4659B DEFA5 FAM66B DEFA8P
nsv610007	Chr.8:6797870 - 6971563 on Build GRCh38	Gain	DEFA4 DEFB1 DEFA10P XKR5 DEFA6 GS1-24F4.2 DEFA9P DEFA8P
esv2759589	Chr.8:6874198 - 8449233 on Build GRCh38	Gain+Loss	DEFB104A USP17L3 DEFB106A ZNF705G SPAG11A DEFB106B DEFA7P MIR548I3 DEFB103B ZNF705B DEFT1P DEFB4A DEFA10P DEFA1B FAM86B3P DEFA6 DEFB109P1B DEFA11P DEFB104B DEFA5 OR7E154P DEFA8P DEFA4 DEFB1 USP17L1 FAM66E LOC101928095 LOC107986910 SPAG11B PRR23D1 DEFB4B FAM90A7P DEFB107B DEFA1 SGK223 DEFB105A FAM90A10P DEFT1P2 DEFB108P1 USP17L4 DEFA3 OR7E125P DEFA9P PRR23D2 USP17L8 DEFB103A LINC00965 DEFB107A LOC101929400 DEFB105B FAM66B
nsv1015244	Chr.8:6781378 - 7131392 on Build GRCh38	Gain	DEFA4 DEFB1 DEFA10P XKR5 DEFA1B DEFA3 DEFA6 GS1-24F4.2 DEFA9P DEFA11P DEFA1 DEFA7P DEFA5 DEFT1P2 DEFA8P DEFT1P

More Information

• Set Membership: Intragenic, Non-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