Detailed description page of humcfs

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DYSF details
Primary information
gene_nameDYSF
Humcfs IdHumcfs_754
chromosome_numberchromosome2
nameFRA2E
chrlocation68600001-75000000
cytoband2p13
typeAphidicolin
frequencyCommon
gene_ensembl_idENST00000409366
havana_transcript_idOTTHUMT00000327476
gene_location71466702-71686648
gene_orientation+
exon_idENSE00001578804, ENSE00001122765, ENSE00001122758, ENSE00001072850, ENSE00001072851, ENSE00001072865, ENSE00001072857, ENSE00001072846, ENSE00001072856, ENSE00001122715, ENSE00001122705, ENSE000010728
exon_number56
gene_descriptiondysferlin
disease_descriptionJuvenile arthritis,RIPPLING MUSCLE DISEASE 1,Rippling muscle disease,Congenital myopathy (disorder),Muscular Dystrophies, Limb-Girdle,Welander Distal Myopathy,Chorea,Congenital kyphosis,Kyphosis deformity of spine,Polymyositis,Miyoshi myopathy,Myopathy,Plaque, Amyloid,Muscular Dystrophy,Pain,Cardiovascular Diseases,Distal Muscular Dystrophies,Muscular Atrophy,Lipoid nephrosis,Multiple Sclerosis,Paresis,Alzheimer's Disease,Fukuyama Type Congenital Muscular Dystrophy,MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET,Limb-girdle muscular dystrophy type 2A,Dysferlinopathy,Muscle degeneration,Sarcoglycanopathies,Amyloidosis,Degenerative disorder,Proximal weakness,Protein Deficiency,Myositis,Tobacco Use Disorder,Cardiomyopathies,Muscle Weakness,MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B,Neuromuscular Diseases
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID15241441
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