Detailed description page of humcfs

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Humcfs_4052 details
Primary information
Humcfs IdHumcfs_4052
chromosome_numberchromosome19
nameFRA19A
chrlocation32400001-59128983
cytoband19q13
type5-azacytidine
frequencyCommon
gene_ensembl_idENSG00000181027
gene_nameFKRP
havana_transcript_idOTTHUMT00000465491
gene_location46746058-46755984
gene_orientation+
exon_idENSE00003010790, ENSE00001219430, ENSE00003076574
exon_number3
gene_descriptionfukutin related protein
disease_descriptionIntellectual Disability,Heart failure,Muscular Dystrophies, Limb-Girdle,Chronic Lymphocytic Leukemia,Cardiomyopathies,alpha-Dystroglycanopathies,Myopathy,Muscular Dystrophy,CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT,Sarcoglycanopathies,Congenital anomaly of brain,Cobblestone Lissencephaly,Muscular Dystrophy, Facioscapulohumeral,Cardiomyopathy, Dilated,Fukuyama Type Congenital Muscular Dystrophy,Congenital muscular dystrophy (disorder),Mental Retardation,Alpha-Sarcoglycanopathies,Walker-Warburg congenital muscular dystrophy,MUSCULAR DYSTROPHY, CONGENITAL, 1C,Muscle degeneration,Cyst,Congenital Heart Defects,Neuromuscular Diseases,MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5,Muscle eye brain disease,Becker Muscular Dystrophy,Congestive heart failure,Muscle biopsy shows dystrophic changes,MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I,Congenital neurologic anomalies
miRNA_location42133455-42133472
miRNA_strand-
miRNA_idMIMAT0016875
miRNA_namehsa-miR-4323
miRNA_derived MI0015853
TechniqueKaryotyping
PMID2579891
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