Hs01938763_cn

• Gene Symbol: MUTYH
• Assay Reference Genome Location: Chr.1:45340068 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 4595
• Gene Name: mutY DNA glycosylase
• Gene Aliases: MYH
• Location: Chr.1:45329242-45340925 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MUTYH	NM_001048171.1			NP_001041636.1
	NM_001048172.1			NP_001041637.1
	NM_001048173.1			NP_001041638.1
	NM_001128425.1			NP_001121897.1
	NM_001293190.1			NP_001280119.1
	NM_001293192.1			NP_001280121.1
	NM_001293196.1			NP_001280125.1
	NM_012222.2			NP_036354.1
	XM_011541498.1			XP_011539800.1
	XM_011541503.2			XP_011539805.1
	XM_011541504.2			XP_011539806.1
	XM_011541505.2			XP_011539807.1
	XM_011541506.1			XP_011539808.1
	XM_017001331.1			XP_016856820.1
	XM_017001332.1			XP_016856821.1
	XM_017001335.1			XP_016856824.1
	XM_017001336.1			XP_016856825.1
	XM_017001337.1			XP_016856826.1
	XM_017001338.1			XP_016856827.1
	XM_017001339.1			XP_016856828.1
	AB032920.1			BAA89336.1
	AB032921.1			BAA89337.1
	AB032922.1			BAA89338.1
	AB032923.1			BAA89339.1
	AB032927.1			BAA89343.1
	AB032928.1			BAA89344.1
	AB032929.1			BAA89345.1
	AK293830.1
	BC003178.1			AAH03178.1
	BM926983.1
	CN413115.1	1	170
	HY094590.1
	KU178203.1
	KU178204.1

Target Gene Details

• Entrez Gene ID: 114034
• Gene Name: target of EGR1, member 1 (nuclear)
• Gene Aliases: hCaf1z
• Location: Chr.1:45339457-45343978 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOE1	NM_025077.3	1	399	NP_079353.3
	XM_005270412.3	1	364	XP_005270469.1
	XM_005270413.4	1	421	XP_005270470.1
	XM_011540569.2	1	612	XP_011538871.1
	AK293704.1
	AY169960.1	1	399	AAN75441.1
	DA887065.1	1	325

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2750837	Chr.1:45330443 - 45442591 on Build GRCh38	Loss	TOE1 TESK2 MUTYH

More Information

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

Panther Classification:

Molecular Function -

DNA glycosylase, mRNA polyadenylation factor

Gene Ontology Categories:

Process(es)

DNA repair
mismatch repair
response to oxidative stress
depurination
RNA phosphodiester bond hydrolysis, exonucleolytic

Function(s)

DNA binding
protein binding
DNA N-glycosylase activity
MutLalpha complex binding
MutLbeta complex binding
MutSalpha complex binding
MutSbeta complex binding
metal ion binding
4 iron, 4 sulfur cluster binding
3'-5'-exoribonuclease activity
nucleic acid binding
poly(A)-specific ribonuclease activity