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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. APTX, aprataxin
Sequence ID:NM_001195248
NM_001195249
NM_001195250
NM_001195251
NM_001195252
NM_001195254
NM_175069
NM_175073
NR_036576
NR_036577
NR_036578
NR_036579
NM_017692
NM_175072
RefSeqGene ID:NG_012821
Entrez Gene ID:54840
Ensembl ID:ENSG00000137074

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, pituitary gland, placenta, pooled tissue, prostate, retina, salivary gland, skin, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 

Cytogenetic Location (from UniGene)

Cytogenetic Location:9p13.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:9: 32972603 - 32989864

 Exon Info From UCSC:
NM_175069
NM_175073
NM_017692
NM_175072

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5505120Full LengthBC032650aprataxin
8143884Full LengthBC104881aprataxin

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_778243  NP_778239  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001195248 NP_001182177 Q7Z2E3  
NM_001195249 NP_001182178    
NM_001195250 NP_001182179    
NM_001195251 NP_001182180    
NM_001195252 NP_001182181    
NM_001195254 NP_001182183    
NM_175069 NP_778239   HIT
NM_175073 NP_778243   HIT

Related Sequences

 
mRNAGenPeptSwissProt
BC001628 AAH01628 Q7Z2E3
BC032650 AAH32650 Q7Z2E3
BC104881 AAI04882 Q7Z2E3
AY040777 AAK91768 Q7Z2E3
AY208829 AAP86319 Q7Z2E3
AY208830 AAP86320 Q7Z2E3
AY208831 AAP86321 Q7Z2E3
AY208832 AAP86322 Q7Z2E3
AY208833 AAP86323 Q7Z2E3
AY208834 AAP86324 Q7Z2E3
AY208835 AAP86325 Q7Z2E3
AY208836 AAP86326 Q7Z2E3
AY208837 AAP86327 Q7Z2E3
AY208838 AAP86328 Q7Z2E3
AY208839 AAP86329 Q7Z2E3
AY208840 AAP86330 Q7Z2E3
AY208841 AAP86331 Q7Z2E3
AY208842 AAP86332 Q7Z2E3
AY302067 AAQ74130 Q7Z2E3
AY302068 AAQ74131 Q7Z2E3
AY302069 AAQ74132 Q6JV79
AY302070 AAQ74133 Q7Z2E3
AY302071 AAQ74134 Q7Z2E3
AY302072 AAQ74135 Q7Z2E3
AY302073 AAQ74136 Q6JV79
AY302074 AAQ74137 Q7Z2E3
JF432548 ADZ15765  
AK000164 BAA90985 Q7Z2E3
AK055672 BAG51552 Q7Z2E3
AB603741 BAK31015 F5HRF8
AJ565850 CAD92454 Q7Z2E3
AJ565851 CAD92455 Q7Z2E3
AJ565852 CAD92456 Q7Z2E3
AJ565853 CAD92457 Q7Z2E3
AJ565854 CAD92458 Q7Z2E3
AJ565855 CAD92459 Q7Z2E3
BX538161 CAD98041 Q7Z2E3
AJ575566 CAE01427 Q7Z2E3

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens APTX NP_001182177 M.musculus Aptx 66408 Gene Info NP_079821 87
R.norvegicus Aptx 259271   NP_683687 84

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)