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Gene : PRDM16 Homo sapiens

Name  ? PR/SET domain 16 Cytological Location  1p36.32
Brief Description  PR/SET domain 16
Description  The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
  • synonyms:
  • PRDM16,
  • MGC166915,
  • uc001akf.4,
  • NM_022114,
  • MEL1,
  • transcription factor MEL1,
  • PR-domain zinc finger protein 16,
  • MDS1/EVI1-like,
  • AF294278,
  • MEL1,
  • CMD1LL,
  • KMT8F,
  • HGNC:14000,
  • OTTHUMG00000000581,
  • PR domain 16,
  • KMT8F,
  • PFM13,
  • PFM13,
  • LVNC8,
  • KIAA1675,
  • PR domain containing 16
  • identifiers:
  • 63976,
  • ENSG00000142611,
  • PRDM16

Genome feature

Region: gene ? Length: 369419  
Location: 1:3069203-3438621 Cyto location: 1p36.32


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

106 SN Ps

5 Cross References

18 Data Sets

18 Homologues

0 Located Features

97 Rna Seq Results