APTX gene homepage

General information
Gene symbol APTX
Gene name aprataxin
Chromosome 9
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_012821.1
Transcript reference NM_175073.2
Exon/intron information NM_175073.2 exon/intron table
Associated with diseases AOA, EAOH, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Rick van Minkelen
Total number of public variants reported 145
Unique public DNA variants reported 87
Individuals with public variants 72
Hidden variants 8
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated February 24, 2019
Version APTX:190224

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_175073.2.
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
Homepage URL http://www.LOVD.nl/APTX
External URL Orphanet
HGNC 15984
Entrez Gene 54840
PubMed articles APTX
OMIM - Gene 606350
OMIM - Diseases EAOH (ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (EAOH))
GeneCards APTX
GeneTests APTX

Active transcripts




NCBI ID     

NCBI Protein ID     

00023876 9 transcript variant 1 NM_175073.2 NP_778243.1 145

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