Detailed description page of humcfs

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Humcfs_4649 details
Primary information
Humcfs IdHumcfs_4649
chromosome_numberchromosome19
nameFRA19B
chrlocation1-20000000
cytoband19p13
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000032444
gene_namePNPLA6
havana_transcript_idOTTHUMT00000459285
gene_location7535025-7539974
gene_orientation+
exon_idENSE00003020026, ENSE00003481814, ENSE00003785656, ENSE00003511730, ENSE00003649724, ENSE00003070083
exon_number6
gene_descriptionpatatin-like phospholipase domain containing 6
disease_descriptionOliver-McFarlane syndrome,Laurence-Moon Syndrome,Retinitis Pigmentosa,Congenital ichthyosis,Ichthyoses,Benign symmetrical lipomatosis,Pure hereditary spastic paraplegia,Pituitary Diseases,Motor Neuron Disease,Polyneuropathy,Spastic Paraplegia,Retinal Degeneration,Neuroblastoma,Amyotrophic Lateral Sclerosis,nervous system disorder,Gait Ataxia,Autosomal Recessive Hereditary Spastic Paraplegia,Muscular Atrophy,Virus Diseases,Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism,Henoch-Schoenlein Purpura,Spastic Paraplegia 39, Autosomal Recessive,Hypogonadism,Central neuroblastoma,Spastic Paraplegia, Hereditary,Neuropathy,Diabetic Neuropathies,Lipomatosis,Neurodegenerative Disorders,Peripheral Neuropathy,Cerebellar Ataxia and Hypogonadotropic Hypogonadism,Steatohepatitis,Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive,Skin symptom,Retinal Dystrophies,Photoreceptor degeneration,Sick Building Syndrome,Ataxia,Fatty Liver
miRNA_location10038391-10038413
miRNA_strand+
miRNA_idMIMAT0022298
miRNA_namehsa-miR-5589-3p
miRNA_derived MI0019148
TechniqueFISH
PMID3568428
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