Detailed description page of humcfs
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Humcfs_862 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_862 |
| chromosome_number | chromosome2 |
| name | FRA2I |
| chrlocation | 197400001-209000000 |
| cytoband | 2q33 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENST00000409129 |
| gene_name | NIF3L1 |
| havana_transcript_id | OTTHUMT00000336206 |
| gene_location | 200889447-200893378 |
| gene_orientation | + |
| exon_id | ENSE00001585453, ENSE00001584216, ENSE00001526718, ENSE00001579293 |
| exon_number | 4 |
| gene_description | NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) |
| disease_description | Arteriosclerosis,Bronchopulmonary Dysplasia,Movement Disorders,Diabetes Mellitus,Parkinsonian Disorders,Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency,Pheochromocytoma,Dystonia, Diurnal,Neuroblastoma,Atherosclerosis,Hyperphenylalaninemia, BH4-Deficient, B,Cardiomyopathy, Dilated,CNS metastases,Diabetes,Central neuroblastoma,Neurologic Symptoms,Arthritis,Borderline Personality Disorder,Dopa-Responsive Dystonia,Dystonia,Endothelial dysfunction,Hyperphenylalaninaemia,Familial Dystonia,Diabetes Mellitus, Non-Insulin-Dependent,Dystonia Disorders,Clumsiness - motor delay |
| miRNA_location | 206783245-206783265 |
| miRNA_strand | - |
| miRNA_id | MIMAT0014994 |
| miRNA_name | hsa-miR-3130-3p |
| miRNA_derived | MI0014147 |
| Technique | Karyotyping |
| PMID | 17567780 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |