Detailed description page of humcfs
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MBNL1 details |
| Primary information | |
|---|---|
| gene_name | MBNL1 |
| Humcfs Id | Humcfs_1259 |
| chromosome_number | chromosome3 |
| name | FRA3D |
| chrlocation | 148900001-160700000 |
| cytoband | 3p25 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000152601 |
| havana_transcript_id | OTTHUMT00000353607 |
| gene_location | 152300194-152459327 |
| gene_orientation | + |
| exon_id | ENSE00001954915, ENSE00003677383, ENSE00003538574, ENSE00001006104, ENSE00003644929, ENSE00003566215, ENSE00003673592 |
| exon_number | 7 |
| gene_description | muscleblind-like splicing regulator 1 |
| disease_description | Seizures,Cataract,IGA Glomerulonephritis,Myotonic Dystrophy,Congenital Myotonic Dystrophy,Myotonia,Carcinogenesis,Pyloric Stenosis, Infantile Hypertrophic 1,Cholecystolithiasis,Schizophrenia,Cholelithiasis,Anhedonia,Colorectal Carcinoma,Colorectal Cancer,Myopathy,Tetralogy of Fallot,Hay fever,Polyendocrinopathies, Autoimmune |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 17567780 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |