Detailed description page of humcfs

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Humcfs_1016 details
Primary information
Humcfs IdHumcfs_1016
chromosome_numberchromosome2
nameFRA2S
chrlocation44100001-154900000
cytoband2q23.3
typeAphidicolin
frequencyCommon
gene_ensembl_idENST00000637511
gene_nameNRXN1
havana_transcript_idOTTHUMT00000490596
gene_location50916848-51032101
gene_orientation-
exon_idENSE00003795941, ENSE00002446452, ENSE00003437132, ENSE00002482562, ENSE00002171876, ENSE00003792907
exon_number6
gene_descriptionneurexin 1
disease_descriptionSeizures,Bipolar Disorder,Dysmorphic features,Language Delay,PITT-HOPKINS-LIKE SYNDROME 2,Muscle hypotonia,Neurodevelopmental Disorders,Autistic Disorder,Reperfusion Injury,PITT-HOPKINS SYNDROME,Autistic behavior,Speech Delay,Idiopathic generalized epilepsy,Atrial Septal Defects,Specific language impairment,Mental Depression,Child Development Disorders, Pervasive,Autism Spectrum Disorders,Diabetes Mellitus, Insulin-Dependent,Congenital chromosomal disease,Intellectual Disability,Developmental Disabilities,Mental Retardation,Developmental delay (disorder),Language Development Disorders,Rheumatoid Arthritis,Brain Diseases,Depressive disorder,Severe mental retardation (I.Q. 20-34),Mental disorders,Nicotine Dependence,Craniofacial Abnormalities,Epilepsy,Tobacco Use Disorder,Schizophrenia,Gilles de la Tourette syndrome,Alcoholic Intoxication, Chronic,SCHIZOPHRENIA 17
miRNA_location102432300-102432321
miRNA_strand+
miRNA_idMIMAT0019926
miRNA_namehsa-miR-4772-5p
miRNA_derived MI0017414
TechniqueKaryotyping
PMID20851513
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