Detailed description page of humcfs

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PUS1 details
Primary information
gene_namePUS1
Humcfs IdHumcfs_3516
chromosome_numberchromosome12
nameFRA12E
chrlocation109000001-133851895
cytoband12q24
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000177192
havana_transcript_idOTTHUMT00000397785
gene_location131929589-131932833
gene_orientation+
exon_idENSE00002222808, ENSE00003622828, ENSE00001223968, ENSE00003788257
exon_number4
gene_descriptionpseudouridylate synthase 1
disease_descriptionStomach Neoplasms,Pearson's marrow-pancreas syndrome,Acidosis, Lactic,Sideroblastic anemia,Disease Progression,Mitochondrial Myopathies,MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA,Mitochondrial Diseases,Myopathy
miRNA_location120723233-120723258
miRNA_strand+
miRNA_idMIMAT0019797
miRNA_namehsa-miR-4700-3p
miRNA_derived MI0017333
TechniqueKaryotyping
PMID14526166
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