Detailed description page of humcfs
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UROS details |
| Primary information | |
|---|---|
| gene_name | UROS |
| Humcfs Id | Humcfs_2559 |
| chromosome_number | chromosome10 |
| name | FRA10A |
| chrlocation | 97000000-1089500001 |
| cytoband | 10q23.3 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000188690 |
| havana_transcript_id | OTTHUMT00000050934 |
| gene_location | 125807150-125823089 |
| gene_orientation | - |
| exon_id | ENSE00001447938, ENSE00003662875, ENSE00003625193, ENSE00001384033, ENSE00001372447, ENSE00001447939 |
| exon_number | 6 |
| gene_description | uroporphyrinogen III synthase |
| disease_description | PHOTOPAROXYSMAL RESPONSE 1,Metabolic Diseases,Anemia, Hemolytic,Porphyria, Erythropoietic,Inborn Errors of Metabolism |
| miRNA_location | 133247538-133247557 |
| miRNA_strand | - |
| miRNA_id | MIMAT0002811 |
| miRNA_name | hsa-miR-202-3p |
| miRNA_derived | MI0003130 |
| Technique | Karyotyping |
| PMID | 3879149 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |
| Primary information | |
|---|---|
| gene_name | UROS |
| Humcfs Id | Humcfs_2858 |
| chromosome_number | chromosome10 |
| name | FRA10F |
| chrlocation | 119100001-127500000 |
| cytoband | 10q26.1 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000188690 |
| havana_transcript_id | OTTHUMT00000050930 |
| gene_location | 125788583-125816632 |
| gene_orientation | - |
| exon_id | ENSE00002309496, ENSE00003498183, ENSE00003661763, ENSE00003637107, ENSE00003571649, ENSE00003481818, ENSE00001724008, ENSE00001661123, ENSE00001766561, ENSE00002213261 |
| exon_number | 10 |
| gene_description | DEAH-box helicase 32 (putative) |
| disease_description | Anemia,Urine color abnormal,Collapse of vertebra,Corneal Scar |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | FISH |
| PMID | 23109895 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |