Hs01804821_cn

• Gene Symbol: DEFB119
• Assay Reference Genome Location: Chr.20:31390457 on build GRCh38
• Cytoband: 20q11.21

Target Gene Details

• Entrez Gene ID: 245932
• Gene Name: defensin beta 119
• Gene Aliases: DEFB-19, DEFB-20, DEFB120, DEFB20, ESC42-RELA, ESC42-RELB
• Location: Chr.20:31377163-31390649 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DEFB119	NM_001271209.1			NP_001258138.1
	NM_153289.3			NP_695021.2
	NM_153323.4			NP_697018.1
	NR_073151.1
	NR_073152.1
	NR_073153.1
	NR_126440.1
	AF479698.1			AAQ05837.1
	AF479699.1			AAQ05838.1
	AL732301.1
	AW003815.1
	AY122472.1			AAM93914.1
	AY122473.1			AAM93915.1
	AY358860.1			AAQ89219.1
	AY501001.1			AAS87295.1
	BC062212.1			AAH62212.1
	BI460707.1
	BU561156.1
	HY035342.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470546	Chr.20:31245806 - 31647499 on Build GRCh38	Gain	DEFB118 DEFB117 DEFB119 ID1 LOC107985416 HM13-AS1 DEFB124 DEFB122 DEFB116 DEFB121 DEFB115 REM1 LINC00028 HM13 DEFB123 MIR3193 COX4I2
nsv1060041	Chr.20:31339025 - 31428640 on Build GRCh38	Gain	DEFB118 DEFB117 DEFB121 DEFB119 DEFB122
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB118 DEFB117 DEFB119 ID1 LOC107985416 HM13-AS1 DEFB124 DEFB122 DEFB116 DEFB121 DEFB115 REM1 LINC00028 HM13 DEFB123 MIR3193 COX4I2
dgv4299n100	Chr.20:31247234 - 31436365 on Build GRCh38	Gain	DEFB118 DEFB117 DEFB121 DEFB115 DEFB119 DEFB122 DEFB116
esv3645647	Chr.20:31367312 - 31405042 on Build GRCh38	Gain	DEFB118 DEFB121 DEFB119
nsv585910	Chr.20:31305698 - 31457590 on Build GRCh38	Gain	DEFB118 DEFB117 DEFB121 DEFB119 DEFB123 DEFB122 DEFB116
esv3645644	Chr.20:31257358 - 31413171 on Build GRCh38	Loss	DEFB118 DEFB117 DEFB121 DEFB115 DEFB119 DEFB116

More Information

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

Panther Classification:

Molecular Function -

antimicrobial response protein, defense/immunity protein

Gene Ontology Categories:

Process(es)

defense response to bacterium
innate immune response