Hs00618218_cn

• Gene Symbol: TFEB
• Assay Reference Genome Location: Chr.6:41684013 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 7942
• Gene Name: transcription factor EB
• Gene Aliases: ALPHATFEB, BHLHE35, TCFEB
• Location: Chr.6:41683978-41736259 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TFEB	NM_001167827.2			NP_001161299.2
	NM_001271943.1			NP_001258872.1
	NM_001271944.1			NP_001258873.1
	NM_001271945.1			NP_001258874.1
	NM_007162.2			NP_009093.1
	XM_005249411.1			XP_005249468.1
	XM_005249412.1			XP_005249469.1
	XM_006715212.3			XP_006715275.1
	XM_006715213.2			XP_006715276.1
	XM_011514915.1			XP_011513217.1
	XM_011514916.2			XP_011513218.1
	AA235980.1
	AJ608786.1			CAE77681.1
	BC006225.2			AAH06225.2
	BC032448.1			AAH32448.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759422	Chr.6:41621051 - 41731715 on Build GRCh38	Loss	MDFI TFEB

More Information

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

Gene Ontology Categories:

Process(es)

embryonic placenta development
adaptive immune response
transcription, DNA-templated
regulation of transcription, DNA-templated
autophagy
humoral immune response
lysosome organization
positive regulation of autophagy
positive regulation of transcription from RNA polymerase II promoter

Function(s)

transcription factor activity, sequence-specific DNA binding
transcription regulatory region DNA binding
protein dimerization activity