Detailed description page of humcfs

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Humcfs_506 details
Primary information
Humcfs IdHumcfs_506
chromosome_numberchromosome1
nameFRA1H
chrlocation224100001-236600000
cytoband1q42
type5-azacytidine
frequencyCommon
gene_ensembl_idENSG00000143801
gene_namePSEN2
havana_transcript_idOTTHUMT00000091542
gene_location226870616-226885568
gene_orientation+
exon_idENSE00001900559, ENSE00001236977, ENSE00003462721, ENSE00001071125, ENSE00001958339
exon_number5
gene_descriptionpresenilin 2
disease_descriptionFrontotemporal dementia,Inflammatory Breast Carcinoma,Conduct Disorder,Amnesia,ovarian neoplasm,Mammary Neoplasms,Pick Disease of the Brain,Transitional cell carcinoma of bladder,Precancerous Conditions,Senile Plaques,Neurodegenerative Disorders,Alzheimer Disease, Early Onset,Crohn Disease,Brain Neoplasms,ALZHEIMER DISEASE 4,ALZHEIMER DISEASE 5,Familial encephalopathy with neuroserpin inclusion bodies,Alzheimer Disease, Late Onset,Impaired glucose tolerance,insulinoma,Seizures,Epilepsy,Prostate carcinoma,Cardiomyopathy, Dilated, 1V,Disorientation,Malignant neoplasm of breast,Breast Carcinoma,Neuroblastoma,Alzheimer's Disease,Central neuroblastoma,Secondary malignant neoplasm of lymph node,ALZHEIMER DISEASE 18,Malignant Glioma,Mild cognitive disorder,Asphyxia Neonatorum,Malignant mesothelioma,Eczema,Cystadenoma,Dermatitis, Atopic,Osteosarcoma of bone,Stomach Carcinoma,Neoplasm Metastasis,Carcinoma of Male Breast,GRN-related frontotemporal dementia,Ovarian Carcinoma,Impaired cognition,Ca
miRNA_location233624152-233624219
miRNA_strand+
miRNA_idMI0016766
miRNA_namehsa-mir-4427
miRNA_derived NA
TechniqueFISH
PMID17311248
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