Hs06360912_cn

• Gene Symbol: ETV6
• Assay Reference Genome Location: Chr.12:11649691 on build GRCh38
• Cytoband: 12p13.2

Target Gene Details

• Entrez Gene ID: 2120
• Gene Name: ETS variant 6
• Gene Aliases: TEL, TEL/ABL, THC5
• Location: Chr.12:11649601-11895402 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ETV6	XM_011520607.2	1	91	XP_011518909.1
	XM_017018990.1	1	91	XP_016874479.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1070094	Chr.12:11649565 - 11650766 on Build GRCh38	Deletion	ETV6
nsv1046355	Chr.12:11501836 - 12890185 on Build GRCh38	Loss	GPR19 ETV6 MIR613 LOH12CR2 LOC105369662 RPL13AP20 DUSP16 LOC100506248 LRP6 LINC01252 DDX47 APOLD1 BCL2L14 MANSC1 CREBL2 MIR1244-4 BORCS5 CDKN1B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

winged helix/forkhead transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
cell differentiation
positive regulation of transcription from RNA polymerase II promoter
hematopoietic stem cell proliferation

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II transcription factor activity, sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
transcription factor activity, sequence-specific DNA binding
protein binding
protein domain specific binding