Detailed description page of humcfs
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Humcfs_4071 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_4071 |
| chromosome_number | chromosome19 |
| name | FRA19A |
| chrlocation | 32400001-59128983 |
| cytoband | 19q13 |
| type | 5-azacytidine |
| frequency | Common |
| gene_ensembl_id | ENSG00000039650 |
| gene_name | PNKP |
| havana_transcript_id | OTTHUMT00000465841 |
| gene_location | 49863966-49867909 |
| gene_orientation | - |
| exon_id | ENSE00003764674, ENSE00003487512, ENSE00003629452, ENSE00003558663, ENSE00003601109, ENSE00003661218, ENSE00003017974 |
| exon_number | 7 |
| gene_description | polynucleotide kinase 3'-phosphatase |
| disease_description | Seizures,Early infantile epileptic encephalopathy with suppression bursts,Colonic Polyps,Cerebellar degeneration,Polyneuropathy,Adenoma,nervous system disorder,Machado-Joseph Disease,Developmental Disabilities,Microcephaly,Graft-vs-Host Disease,Multiple Sclerosis,polyps,Hematologic Neoplasms,Developmental delay (disorder),Neurodegenerative Disorders,MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY,Colonic Neoplasms,Neoplasm Recurrence, Local,Ataxia,SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1,DNA Repair-Deficiency Disorders,Primary microcephaly,Ataxia Telangiectasia |
| miRNA_location | 53686484-53686505 |
| miRNA_strand | + |
| miRNA_id | MIMAT0002831 |
| miRNA_name | hsa-miR-519c-5p |
| miRNA_derived | MI0003148 |
| Technique | Karyotyping |
| PMID | 2579891 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |