Detailed description page of humcfs
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CLN5 details |
| Primary information | |
|---|---|
| gene_name | CLN5 |
| Humcfs Id | Humcfs_3653 |
| chromosome_number | chromosome13 |
| name | FRA13E |
| chrlocation | 73300001-79000000 |
| cytoband | 13q22 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000102805 |
| havana_transcript_id | OTTHUMT00000489755 |
| gene_location | 76992098-77018366 |
| gene_orientation | + |
| exon_id | ENSE00003795686, ENSE00003724627, ENSE00000684230, ENSE00003793724, ENSE00003798433 |
| exon_number | 5 |
| gene_description | ceroid-lipofuscinosis, neuronal 5 |
| disease_description | Congenital Abnormality,Cleft face,Non-Small Cell Lung Carcinoma,Malignant neoplasm of breast,Breast Carcinoma,CEROID LIPOFUSCINOSIS, NEURONAL, 5,nervous system disorder,Late-Infantile Neuronal Ceroid Lipfuscinosis,Vomiting,Developmental Disabilities,Cleft lip, isolated,Mental Retardation,Juvenile-Onset Still Disease,Juvenile Neuronal Ceroid Lipofuscinosis,KUFOR-RAKEB SYNDROME,Impaired cognition,Brain Diseases,Northern epilepsy syndrome,Neurodegenerative Disorders,Neuronal Ceroid-Lipofuscinoses,Adult Neuronal Ceroid Lipofuscinosis,Generalized seizures,Unspecified visual loss,Epilepsy,Cerebral atrophy,Lysosomal Storage Diseases,Cleft Lip with or without Cleft Palate |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 14526168 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |