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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. ATRX, alpha thalassemia/mental retardation syndrome X-linked
Sequence ID:NM_000489
NM_138270
NM_138271
RefSeqGene ID:NG_008838
Entrez Gene ID:546
Ensembl ID:ENSG00000085224

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, ear, 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, pineal gland, pituitary gland, placenta, pooled tissue, prostate, retina, skin, spleen, stem cell, stomach, t-cell, testis, thymus, thyroid, 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
ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME, SOMATIC 
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME 
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED 

Cytogenetic Location (from UniGene)

Cytogenetic Location:Xq21.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:X: 76763828 - 77041487

 Exon Info From UCSC:
NM_000489
NM_138270

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100061776BC156296alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000480  NP_612114  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000489 NP_000480 P46100 EC 3.6.4.12 SNF2_N
Helicase_C
NM_138270 NP_612114     SNF2_N
Helicase_C

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
U72936 AAB49969 P46100 EC 3.6.4.12
U72937 AAB49970 P46100 EC 3.6.4.12
U72938 AAB49971 P46100 EC 3.6.4.12
U09820 AAC50069 P46100 EC 3.6.4.12
BC002521 AAH02521 Q86U63  
BC156296 AAI56297    
BT007188 AAP35852 Q86U63  
AB102641 BAC81110 P46100 EC 3.6.4.12
AB208928 BAD92165 P46100 EC 3.6.4.12
AB209545 BAD92782 P46100 EC 3.6.4.12
AK295107 BAG58140 B4DHH8  
AK296959 BAG59503 B4DLE1  
AK297183 BAG59673 B4DLW1  
AK293241 BAH11474 B7Z1D8  

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 ATRX NP_000480 R.norvegicus Atrx 246284   NP_001099227 97
M.musculus Atrx 22589 Gene Info NP_033556 85
A.gambiae AgaP_AGAP002490 1273471   XP_312449 51
C.elegans xnp-1 172077   NP_001020958 43
D.melanogaster XNP 43080   NP_651398 43

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