Detailed description page of humcfs

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Humcfs_2405 details
Primary information
Humcfs IdHumcfs_2405
chromosome_numberchromosome8
nameFRA8D
chrlocation139900001-146364022
cytoband8q24.3
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000178209
gene_namePLEC
havana_transcript_idOTTHUMT00000383859
gene_location143935277-143946405
gene_orientation-
exon_idENSE00002166373, ENSE00001244172, ENSE00001741875, ENSE00003519962, ENSE00003693086, ENSE00003574791, ENSE00002173401
exon_number7
gene_descriptionplectin
disease_descriptionCongenital Abnormality,Epidermolysis bullosa with pyloric atresia,Liver carcinoma,Congenital Structural Myopathy,Cardiomyopathies,Adenocarcinoma,Infection,Neoplasm Metastasis,HIV Infections,Inherited epidermolysis bullosa,Bullous pemphigoid,Stridor,Dermatologic disorders,Epidermolysis Bullosa Simplex With Pyloric Atresia,Porphyria Cutanea Tarda,Pyloric Atresia,Diffuse alopecia,Adenoma,Muscular Dystrophy,EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder),Congenital defects,Epidermolysis bullosa simplex, Ogna type,Myasthenic Syndrome,Epidermolysis Bullosa Simplex,Autoimmune Diseases,Fibrinogen Adverse Event,Medulloblastoma,MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q,Centronuclear myopathy,Disease of mucous membrane,Multiple Myeloma,Muscular Dystrophies, Limb-Girdle,Skin Manifestations,Alexander Disease,Myasthenic Syndromes, Congenital,Astrocytoma,Epidermolysa bullosa simplex and limb girdle muscular dystrophy,Epidermolysis Bullosa,Schizophrenia,Lambert-Eaton Myasthenic Syndrome,E
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID15381365
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