TOP3A gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

TOP3A (topoisomerase (DNA) III alpha)

LOVD v.3.0 Build 21 [ Current LOVD status ]
Register as submitter | Log in

	Curator: Lishuang Shen

Submit new data

TOP3A gene homepage

General information
Gene symbol	TOP3A
Gene name	topoisomerase (DNA) III alpha
Chromosome	17
Chromosomal band	p11.2
Imprinted	Unknown
Genomic reference	NC_000017.10
Transcript reference	NM_004618.3, XM_005256776.2, XM_011524000.1, XM_011524001.1
Associated with diseases	618098
Citation reference(s)	-
Curators (1)	Lishuang Shen
Total number of public variants reported	2
Unique public DNA variants reported	2
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Date created	May 13, 2016

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	11992
Entrez Gene	7156
PubMed articles	TOP3A
OMIM - Gene	601243
OMIM - Diseases	618098 (PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5)
HGMD	TOP3A
GeneCards	TOP3A
GeneTests	TOP3A

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00004412	17	topoisomerase (DNA) III alpha	NM_004618.3	NP_004609.1	2
00004413	17	transcript variant X1	XM_005256776.2	XP_005256833.1	0
00004414	17	transcript variant X2	XM_011524000.1	XP_011522302.1	0
00004415	17	transcript variant X3	XM_011524001.1	XP_011522303.1	0

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2016-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases. We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.