Hs01386561_cn

• Gene Symbol: TOP1MT
• Assay Reference Genome Location: Chr.8:143321361 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 116447
• Gene Name: topoisomerase (DNA) I, mitochondrial
• Gene Aliases: -
• Location: Chr.8:143309324-143359977 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOP1MT	NM_001258446.1			NP_001245375.1
	NM_001258447.1			NP_001245376.1
	NM_052963.2			NP_443195.1
	XM_005250781.3			XP_005250838.1
	AF349017.1			AAL05624.1
	AK302372.1
	AK303237.1
	AK308475.1
	AK309005.1
	AK311647.1
	AK315913.1
	AK316380.1
	BC044646.1			AAH44646.1
	BC052285.1			AAH52285.1
	BC071914.1			AAH71914.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470247	Chr.8:143283403 - 143615483 on Build GRCh38	Loss	TOP1MT PYCRL TIGD5 NAPRT MAFA-AS1 TSTA3 GSDMD EEF1D ZNF696 ZC3H3 RHPN1-AS1 RHPN1 MROH6 MAFA
esv2737996	Chr.8:143321254 - 143322082 on Build GRCh38	Deletion	TOP1MT
nsv950010	Chr.8:143243031 - 143345330 on Build GRCh38	Deletion	GLI4 TOP1MT ZFP41 ZNF696 MINCR

More Information

Additional Information:

For this assay, SNP(s) [rs114379623] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

DNA topoisomerase

Gene Ontology Categories:

Process(es)

DNA replication
DNA topological change
chromatin remodeling
chromosome segregation

Function(s)

DNA binding
DNA topoisomerase type I activity
DNA topoisomerase type II (ATP-hydrolyzing) activity