Detailed description page of humcfs

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CLN5 details
Primary information
gene_nameCLN5
Humcfs IdHumcfs_3653
chromosome_numberchromosome13
nameFRA13E
chrlocation73300001-79000000
cytoband13q22
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000102805
havana_transcript_idOTTHUMT00000489755
gene_location76992098-77018366
gene_orientation+
exon_idENSE00003795686, ENSE00003724627, ENSE00000684230, ENSE00003793724, ENSE00003798433
exon_number5
gene_descriptionceroid-lipofuscinosis, neuronal 5
disease_descriptionCongenital Abnormality,Cleft face,Non-Small Cell Lung Carcinoma,Malignant neoplasm of breast,Breast Carcinoma,CEROID LIPOFUSCINOSIS, NEURONAL, 5,nervous system disorder,Late-Infantile Neuronal Ceroid Lipfuscinosis,Vomiting,Developmental Disabilities,Cleft lip, isolated,Mental Retardation,Juvenile-Onset Still Disease,Juvenile Neuronal Ceroid Lipofuscinosis,KUFOR-RAKEB SYNDROME,Impaired cognition,Brain Diseases,Northern epilepsy syndrome,Neurodegenerative Disorders,Neuronal Ceroid-Lipofuscinoses,Adult Neuronal Ceroid Lipofuscinosis,Generalized seizures,Unspecified visual loss,Epilepsy,Cerebral atrophy,Lysosomal Storage Diseases,Cleft Lip with or without Cleft Palate
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID14526168
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