Hs02309602_cn

• Gene Symbol: EID3
• Assay Reference Genome Location: Chr.12:104304248 on build GRCh38
• Cytoband: 12q23.3

Target Gene Details

• Entrez Gene ID: 493861
• Gene Name: EP300 interacting inhibitor of differentiation 3
• Gene Aliases: NS4EB, NSE4B, NSMCE4B
• Location: Chr.12:104303732-104305205 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EID3	NM_001008394.2	1	517	NP_001008395.1
	AK098698.1	1	510	BAC05385.1
	BC027612.2	1	478	AAH27612.1
	BI461575.1	1	522

Target Gene Details

• Entrez Gene ID: 7296
• Gene Name: thioredoxin reductase 1
• Gene Aliases: GRIM-12, TR, TR1, TRXR1, TXNR
• Location: Chr.12:104215779-104350307 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TXNRD1	NM_001093771.2			NP_001087240.1
	NM_001261445.1			NP_001248374.1
	NM_001261446.1			NP_001248375.1
	NM_003330.3			NP_003321.3
	NM_182729.2			NP_877393.1
	NM_182742.2			NP_877419.1
	NM_182743.2			NP_877420.1
	AF077367.1			AAC69621.1
	AK128515.1			BAC87474.1
	AK226071.1
	AK293322.1
	AK295067.1
	AK296495.1
	AK304241.1
	AK308881.1
	AK312262.1
	AL701549.1
	AY057105.1			AAL15432.1
	AY344080.1
	AY344081.1			AAQ62461.1
	AY344083.1			AAQ62462.1
	AY344084.1			AAQ62463.1
	AY344086.1			AAQ62464.1
	AY344087.1			AAQ62465.1
	AY344088.1
	AY344089.1			AAQ62466.1
	AY344092.1			AAQ62467.1
	AY344093.1			AAQ62468.1
	AY344095.1			AAQ62469.1
	AY344096.1			AAQ62470.1
	AY344669.1
	AY344670.1			AAQ62471.1
	AY344671.1
	AY344672.1
	AY344673.1			AAQ62472.1
	AY344675.1
	AY344679.1			AAQ62473.1
	BC018122.1			AAH18122.2
	BG772375.1
	D88687.1			BAA13674.1
	DA238692.1
	DA319870.1
	DA440625.1
	DC400503.1
	S79851.1			AAB35418.1
	X91247.1			CAA62629.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv52994	Chr.12:104302508 - 104307999 on Build GRCh38	Deletion	EID3 TXNRD1
esv3630634	Chr.12:104247347 - 104343900 on Build GRCh38	Gain	EID3 TXNRD1
esv3580448	Chr.12:104283545 - 104307551 on Build GRCh38	Loss	EID3 TXNRD1

More Information

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

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

DNA repair
DNA recombination
transcription, DNA-templated
regulation of transcription, DNA-templated
protein sumoylation
response to reactive oxygen species
mesoderm formation
selenium compound metabolic process
signal transduction
cell proliferation
nucleobase-containing small molecule interconversion
cell redox homeostasis
oxidation-reduction process
cellular oxidant detoxification

Function(s)

protein binding
identical protein binding
thioredoxin-disulfide reductase activity
electron carrier activity
protein disulfide oxidoreductase activity
flavin adenine dinucleotide binding
methylselenol reductase activity
methylseleninic acid reductase activity