Detailed description page of humcfs
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BBS1 details |
| Primary information | |
|---|---|
| gene_name | BBS1 |
| Humcfs Id | Humcfs_3111 |
| chromosome_number | chromosome11 |
| name | FRA11H |
| chrlocation | 63400001-77100000 |
| cytoband | 11q13 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000174483 |
| havana_transcript_id | OTTHUMT00000393250 |
| gene_location | 66510634-66514498 |
| gene_orientation | + |
| exon_id | ENSE00002160110, ENSE00003508847, ENSE00002173936 |
| exon_number | 3 |
| gene_description | Bardet-Biedl syndrome 1 |
| disease_description | Cohen syndrome,Klinefelter Syndrome,Retinal Degeneration,DIABETES MELLITUS, INSULIN-DEPENDENT, 4,Retinitis Pigmentosa,Retinal Diseases,Cardiovascular Diseases,Bardet-Biedl Syndrome,Disorder of macula of retina,Malignant Pleural Mesothelioma,Klinefelter's syndrome - male with more than two X chromosomes,Autosomal recessive retinitis pigmentosa,Spinocerebellar Ataxia Type 5,Obesity,Bardet-Biedl syndrome 1 (disorder) |
| miRNA_location | 65129951-65129973 |
| miRNA_strand | - |
| miRNA_id | MIMAT0027402 |
| miRNA_name | hsa-miR-6751-5p |
| miRNA_derived | MI0022596 |
| Technique | Karyotyping |
| PMID | 23852038 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |