Detailed description page of humcfs
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PDP1 details |
| Primary information | |
|---|---|
| gene_name | PDP1 |
| Humcfs Id | Humcfs_2330 |
| chromosome_number | chromosome8 |
| name | FRA8B |
| chrlocation | 93300001-99000000 |
| cytoband | 8q22.1 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000164951 |
| havana_transcript_id | OTTHUMT00000378441 |
| gene_location | 93918910-93922757 |
| gene_orientation | + |
| exon_id | ENSE00002106512, ENSE00002109016, ENSE00002103929, ENSE00002113520 |
| exon_number | 4 |
| gene_description | pyruvate dehyrogenase phosphatase catalytic subunit 1 |
| disease_description | Leigh Disease,Pyruvate dehydrogenase phosphatase deficiency,Acidosis,Pyruvate Dehydrogenase Complex Deficiency Disease,leukemia,Impaired exercise tolerance,Gastroenteritis,Acidosis, Lactic,Developmental delay (disorder),Encephalopathies,HIV Infections,Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency,NADH cytochrome B5 reductase deficiency |
| miRNA_location | 95072925-95072946 |
| miRNA_strand | + |
| miRNA_id | MIMAT0019206 |
| miRNA_name | hsa-miR-3150a-5p |
| miRNA_derived | MI0014177 |
| Technique | FISH |
| PMID | 14562053 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |