Hs07533889_cn

• Gene Symbol: TSC22D1
• Assay Reference Genome Location: Chr.13:44468606 on build GRCh38
• Cytoband: 13q14.11

Target Gene Details

• Entrez Gene ID: 8848
• Gene Name: TSC22 domain family member 1
• Gene Aliases: Ptg-2, TGFB1I4, TSC22
• Location: Chr.13:44432143-44576565 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSC22D1	NM_001243798.1			NP_001230727.1
	NM_001243799.1			NP_001230728.1
	NM_183422.3			NP_904358.2
	AB082525.1
	AK027071.1
	AK091854.1
	BC136475.1
	BC136482.1
	BI463370.1
	CR627459.1			CAH10539.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3631934	Chr.13:44468293 - 44468970 on Build GRCh38	Loss	TSC22D1
esv2677067	Chr.13:44468296 - 44468969 on Build GRCh38	Deletion	TSC22D1
esv23675	Chr.13:44468426 - 44468984 on Build GRCh38	Loss	TSC22D1
nsv958104	Chr.13:44468315 - 44469077 on Build GRCh38	Deletion	TSC22D1
nsv561575	Chr.13:44468473 - 44468929 on Build GRCh38	Loss	TSC22D1
esv2747332	Chr.13:44468309 - 44468974 on Build GRCh38	Deletion	TSC22D1
esv3550396	Chr.13:44468252 - 44469032 on Build GRCh38	Deletion	TSC22D1

More Information

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

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
transcription from RNA polymerase II promoter

Function(s)

transcription factor activity, sequence-specific DNA binding
protein binding