Detailed description page of humcfs

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Humcfs_5118 details
Primary information
Humcfs IdHumcfs_5118
chromosome_numberchromosome22
nameFRA22B
chrlocation29600001-32200000
cytoband22q12.2
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000100150
gene_nameDEPDC5
havana_transcript_idOTTHUMT00000129104
gene_location31768852-31784258
gene_orientation+
exon_idENSE00001782117, ENSE00000653307, ENSE00001683327
exon_number3
gene_descriptionDEP domain containing 5
disease_descriptionCongenital Abnormality,Hemimegalencephaly,Epilepsy, Partial, with Variable Foci,Liver diseases,Malformations of Cortical Development,Malonic aciduria,Tuberous Sclerosis,Congenital anomaly of brain,Virus Diseases,Liver Cirrhosis,Hepatitis C, Chronic,Epilepsy, Rolandic,Liver carcinoma,ovarian serous tumor,Epilepsy, Familial Mesial Temporal Lobe,Cortical Dysplasia,Hepatitis B,Epilepsies, Partial,Temporal epilepsy, familial,Epilepsy,Epilepsy, Temporal Lobe,Autosomal Dominant Nocturnal Frontal Lobe Epilepsy,Macular dystrophy, corneal type 1
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID16221525
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