Detailed description page of humcfs
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PLOD1 details |
| Primary information | |
|---|---|
| gene_name | PLOD1 |
| Humcfs Id | Humcfs_21 |
| chromosome_number | chromosome1 |
| name | FRA1A |
| chrlocation | 1-28000000 |
| cytoband | 1p36 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000083444 |
| havana_transcript_id | OTTHUMT00000006869 |
| gene_location | 11934694-11952691 |
| gene_orientation | + |
| exon_id | ENSE00001664195, ENSE00001470373, ENSE00003625358, ENSE00003680847, ENSE00003527107, ENSE00001718995 |
| exon_number | 6 |
| gene_description | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
| disease_description | Nevo syndrome (disorder),Hypertensive disease,Rieger syndrome,Axenfeld-Rieger syndrome,Rieger eye malformation sequence,Connective Tissue Diseases,Kyphosis deformity of spine,Ehlers-Danlos syndrome type 6,Malignant neoplasm of ovary,Liver carcinoma,Hypothyroidism,AORTIC VALVE DISEASE 2,genetic hypertension,Neoplasm Metastasis,Ehlers-Danlos Syndrome,Bicuspid aortic valve,Osteoporosis |
| miRNA_location | 1339682-1339703 |
| miRNA_strand | - |
| miRNA_id | MIMAT0027516 |
| miRNA_name | hsa-miR-6808-5p |
| miRNA_derived | MI0022653 |
| Technique | Karyotyping |
| PMID | 1322577 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |