Detailed description page of humcfs

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Humcfs_4339 details
Primary information
Humcfs IdHumcfs_4339
chromosome_numberchromosome19
nameFRA19A
chrlocation32400001-59128983
cytoband19q13
type5-azacytidine
frequencyCommon
gene_ensembl_idENSG00000126261
gene_nameUBA2
havana_transcript_idOTTHUMT00000459374
gene_location34428373-34450364
gene_orientation+
exon_idENSE00002901838, ENSE00003669057, ENSE00000862690, ENSE00003504279, ENSE00003660760, ENSE00003500032, ENSE00003664506, ENSE00003791247
exon_number8
gene_descriptionubiquitin-like modifier activating enzyme 2
disease_descriptionSeizures,Early infantile epileptic encephalopathy with suppression bursts,Congenital Abnormality,Mental Retardation, X-Linked 1,Mental Retardation, X-Linked,PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME,Autistic Disorder,RUSSELL-SILVER SYNDROME, X-LINKED,Apraxia, Ideomotor,Dystonia,Neoplasm Metastasis,Agenesis of corpus callosum,Malignant neoplasm of breast,Epileptic encephalopathy,HIV Infections,Congenital anomaly of brain,nervous system disorder,Intellectual Disability,Lissencephaly,Mental Retardation,Developmental delay (disorder),X-Linked Lissencephaly,West Syndrome,Athetoid cerebral palsy,X-linked infantile spasm syndrome,Hydranencephaly,Congenital malformation of genital organs,Generalized dystonia,Epilepsy,Movement Disorders,Cerebral atrophy,Ambiguous Genitalia,Malformations of Cortical Development, Group II,Dystonia Disorders
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID2579891
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