Ensembl ID
ENSG00000137074
Gene ID
54840
Accession
15984
Gene Symbol
APTX
Alias
AOA;AOA1;AXA1;EAOH;EOAHA;FHA-HIT
Full Name
aprataxin
Position
9 : 32886601 - 33025130
Length
138530 bases
Strand
Minus strand
Status
Confidence
Main interacting RNAs diverse RBP type
Canonical_RBPs
Summary
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
ENSG00000137074 Expression In 33 Tumors
Ensembl ID
Gene symbol
Log2 Foldchange
Pvaue
Cancer
ENSG00000137074
APTX
0.52
3.38e-30
BRCA
ENSG00000137074
APTX
0.41
7.17e-11
COAD
ENSG00000137074
APTX
0.84
6.83e-16
LUSC
ENSG00000137074
APTX
0.31
4.95e-11
PRAD
ENSG00000137074
APTX
0.50
1.51e-11
UCEC
Ensembl ID
Gene symbol
Cancer types
Pubmed ID
ENSG00000137074
APTX
tumor
19960345
ENSG00000137074
APTX
tumor
20371676
ENSG00000137074
APTX
AMLs
22001391
ENSG00000137074
APTX
tumors
23517622
ENSG00000137074
APTX
gastric tumors
23762305
ENSG00000137074
APTX
cancer
26256098
ENSG00000137074
APTX
tumor
27769049
ENSG00000137074
APTX
cancer
31448237
Ensembl ID
Gene symbol
Disease/phenotype
Mutation type
Mutated / Total samples
Literature
Ensembl ID
Gene symbol
Cancer
P-value
Which worse
show
ENSG00000137074
APTX
SARC
0.0023
high
show
ENSG00000137074
APTX
UVM
0.0069
high
show
ENSG00000137074
APTX
PAAD
0.003
low
show
ENSG00000137074
APTX
UCEC
0.0021
low
show
ENSG00000137074
APTX
ACC
0.0095
high
show
ENSG00000137074
APTX
LUSC
0.0087
low
show
ENSG00000137074
APTX
READ
0.0067
low
show
ENSG00000137074
APTX
KICH
0.011
high
show
ENSG00000137074
APTX
BRCA
0.03
low
show
ENSG00000137074
APTX
ESCA
0.05
low
show
ENSG00000137074
APTX
OV
0.00068
low
show
ENSG00000137074
APTX
DLBC
0.048
low
show
ENSG00000137074
APTX
BLCA
0.04
low
show
ENSG00000137074
APTX
LAML
0.037
high
show
ENSG00000137074
APTX
CESC
0.02
low
show
ENSG00000137074
APTX
LIHC
0.0025
high
show
Ensembl ID
Gene symbol
Cancer
CNV type
-log10(q-value)
G-score
average amplitude
frequency
ENSG00000137074
APTX
LUSC
Amp
6.078516
0.327376
0.672311
0.265469
ENSG00000137074
APTX
GBM
Del
4.488131
0.088563
0.637676
0.358752
ENSG00000137074
APTX
SKCM
Del
0.869516
0.069325
0.534583
0.626703
ENSG00000137074
APTX
HNSC
Amp
1.897189
0.145321
0.606724
0.237548
ENSG00000137074
APTX
STAD
Amp
0.688077
0.129798
0.500274
0.195011
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