Detailed description page of humcfs

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GPHN details
Primary information
gene_nameGPHN
Humcfs IdHumcfs_3685
chromosome_numberchromosome14
nameFRA14B
chrlocation58100001-67900000
cytoband14q23
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000171723
havana_transcript_idOTTHUMT00000074298
gene_location66508138-67059029
gene_orientation+
exon_idENSE00001887855, ENSE00003603291, ENSE00003512258, ENSE00003471611, ENSE00003673402, ENSE00003657091, ENSE00003492602, ENSE00003556897, ENSE00003615648, ENSE00003594779, ENSE00001844368
exon_number11
gene_descriptiongephyrin
disease_descriptionEpilepsy, Temporal Lobe,Mental Retardation, X-Linked,Alkalosis,Stiff-Person Syndrome,Acute monoblastic leukemia,Dyskinesia, Drug-Induced,Idiopathic generalized epilepsy,Autism Spectrum Disorders,Adenoma,Cocaine-Related Disorders,Alzheimer's Disease,Molybdenum Cofactor Deficiency, Complementation Group C,Systemic arterial pressure,leukemia,Hereditary Hyperexplexia,Blood pressure finding,Epilepsy,Acute monocytic leukemia,Combined molybdoflavoprotein enzyme deficiency,Tobacco Use Disorder,Hyperexplexia,Alcoholic Intoxication, Chronic
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID100769
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