Assay Details
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 11 - Exon 12 |
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 | 10 | 1254 | ||
AK309005.1 | 10 | 1446 | ||
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 | MAFA-AS1 RHPN1 TIGD5 MAFA RHPN1-AS1 ZNF696 PYCRL MROH6 TSTA3 ZC3H3 GSDMD TOP1MT NAPRT EEF1D |
nsv950010 | Chr.8:143243031 - 143345330 on Build GRCh38 | Deletion | ZFP41 MINCR GLI4 TOP1MT ZNF696 |
nsv1016726 | Chr.8:143251666 - 143317866 on Build GRCh38 | Loss | ZFP41 MINCR GLI4 TOP1MT ZNF696 |
esv3573029 | Chr.8:143288603 - 143317769 on Build GRCh38 | Loss | TOP1MT ZNF696 |
esv3573030 | Chr.8:143299820 - 143317769 on Build GRCh38 | Loss | TOP1MT ZNF696 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |