Overview page for breakpoint 22q13.31


Translocations
t(chromsome A; chromosome B)(band A; band B) 
t(4;22)(p15.1;q13.31)    t(15;22)(q14;q13.31)        

MeSH terms (Click on a MeSH term to directly access the available literature information. Read on the concept.)
WordZScore*WordZScore*WordZScore*
Hydronephrosis-8.67Trisomy-4.17  

Genes (Click on a gene symbol to directly access the available literature information. Read on the concept.)
SymbolNameOrganismLocationLocPrecisionZScore*
Dia1   diaphorase 1 (NADH)Mus musculus   not at breakpoint-6.92
 
Asna1   Arsenical pump-driving ATPaseMus musculus   not at breakpoint-6.92
UniProt O54984
NCBI Gene 56495
NCBI RefSeq NP_062626
NCBI UniGene 56495
NCBI Accession AAB94772, AAD15826, AAH16453
 
Arsa   Arylsulfatase A precursorMus musculus   not at breakpoint-6.92
UniProt P50428
NCBI Gene 11883
NCBI RefSeq NP_033843
NCBI UniGene 11883
NCBI Accession AAA37260, AAH11284, AK004540
 
DIA1   NADH-cytochrome b5 reductaseHomo sapiens   not at breakpoint-6.92
UniProt O75675, P00387, Q8TDL8
OMIM 250800
NCBI Gene 1727
NCBI RefSeq NP_000389
NCBI UniGene 1727
NCBI Accession AAA52306, AAA52307, AAA59900
 
ASNA1   Arsenical pump-driving ATPaseHomo sapiens19q13.3-19q13.3not at breakpoint-6.92
UniProt O43681, Q92849
OMIM 601913
NCBI Gene 439
NCBI RefSeq NP_004308
NCBI UniGene 439
NCBI Accession AAC03551, AAC50731, AAH02651
 
ACO2   Aconitate hydratase, mitochondrial precursorHomo sapiens   not at breakpoint-6.92
UniProt O75809, Q99798
OMIM 100850
NCBI Gene 50
NCBI RefSeq NP_001089
NCBI UniGene 50
NCBI Accession AA724140, AAB38416, AAC39921
 
ARSA   Arylsulfatase A precursorHomo sapiens   not at breakpoint-6.92
UniProt P15289
PDB Structure 1AUK, 1E1Z, 1E2S
OMIM 607574
NCBI Gene 410
NCBI RefSeq NP_000478
NCBI UniGene 410
NCBI Accession AAB03341, AAH14210, AAP03431
 

*Statistics for this breakpoint are based on 2 abstracts. Background based on about 10000 abstracts.