Hs07534827_cn

• Gene Symbol: CBFA2T2
• Assay Reference Genome Location: Chr.20:33496604 on build GRCh38
• Cytoband: 20q11.21

Target Gene Details

• Entrez Gene ID: 9139
• Gene Name: CBFA2/RUNX1 translocation partner 2
• Gene Aliases: EHT, MTGR1, ZMYND3, p85
• Location: Chr.20:33490068-33650031 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CBFA2T2	NM_001032999.2			NP_001028171.1
	XM_017028122.1			XP_016883611.1
	AK294168.1
	AK307887.1
	CB998035.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1064413	Chr.20:33348381 - 33599978 on Build GRCh38	Gain	CDK5RAP1 CBFA2T2 SNTA1
esv24338	Chr.20:33496525 - 33497494 on Build GRCh38	Loss	CBFA2T2
dgv4302n100	Chr.20:33413503 - 33558912 on Build GRCh38	Loss	CBFA2T2 SNTA1
esv2660082	Chr.20:33496542 - 33498034 on Build GRCh38	Deletion	CBFA2T2
nsv522690	Chr.20:33427230 - 33552481 on Build GRCh38	Loss	CBFA2T2 SNTA1

More Information

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

Panther Classification:

Molecular Function -

transcription cofactor

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
positive regulation of neuron projection development
negative regulation of neuron projection development
epithelial cell differentiation
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter

Function(s)

transcription factor activity, sequence-specific DNA binding
transcription corepressor activity
protein binding
metal ion binding