Detailed description page of humcfs

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APTX details
Primary information
gene_nameAPTX
Humcfs IdHumcfs_2484
chromosome_numberchromosome9
nameFRA9C
chrlocation19900001-33200000
cytoband9p21
typeBrdU
frequencyCommon
gene_ensembl_idENSG00000137074
havana_transcript_idOTTHUMT00000052028
gene_location32972749-33001604
gene_orientation-
exon_idENSE00001482627, ENSE00003505806, ENSE00003789480, ENSE00003654857, ENSE00003587787, ENSE00001482643, ENSE00003483044, ENSE00001482629
exon_number8
gene_descriptionaprataxin
disease_descriptionAtaxia with vitamin E deficiency,ATAXIA-TELANGIECTASIA-LIKE DISORDER,Marinesco-Sjogren syndrome,COENZYME Q10 DEFICIENCY,Chorea,Hypoalbuminemia,Shy-Drager Syndrome,Ataxia, Spinocerebellar,Malignant neoplasm of prostate,Cerebellar Ataxia,nervous system disorder,Premature aging syndrome,Cerebellar atrophy,Anaplastic Oligodendroglioma,COENZYME Q10 DEFICIENCY, PRIMARY, 1,Cerebellar Ataxia, Early Onset,SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1,SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE,Neuropathy,Apraxia, oculomotor, Cogan type,Oculovestibuloauditory syndrome,Peripheral motor neuropathy,Leukemia, Myelocytic, Acute,Neurodegenerative Disorders,Peripheral Neuropathy,Dystonia,ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA,Anaplastic astrocytoma,Anaplastic Oligoastrocytoma,Hypercholesterolemia,Multiple System Atrophy,Glioblastoma,Friedreich Ataxia,Generalized dystonia,Mitochondrial Diseases,Choreoathetosis,Progressive cerebellar degeneration,Oculomotor apraxia,Ataxia,Ataxic,Ap
miRNA_location28863636-28863657
miRNA_strand-
miRNA_idMIMAT0004925
miRNA_namehsa-miR-876-3p
miRNA_derived MI0005542
TechniqueKaryotyping
PMID2579891
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