Detailed description page of humcfs
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MBD5 details |
| Primary information | |
|---|---|
| gene_name | MBD5 |
| Humcfs Id | Humcfs_968 |
| chromosome_number | chromosome2 |
| name | FRA2K |
| chrlocation | 144100001-148700000 |
| cytoband | 2q22.3 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENST00000638043 |
| havana_transcript_id | OTTHUMT00000490541 |
| gene_location | 148470377-148514333 |
| gene_orientation | + |
| exon_id | ENSE00003796825, ENSE00001505895, ENSE00001468262, ENSE00003616927, ENSE00003793116, ENSE00003506367, ENSE00003798298] |
| exon_number | 7 |
| gene_description | methyl-CpG binding domain protein 5 |
| disease_description | Seizures,Shprintzen syndrome,Anxiety Disorders,Fragile X Syndrome,Dysmorphic features,Sleep Disorders,Mental Retardation, Autosomal Dominant 1,Autism Spectrum Disorders,Bipolar Disorder,Neurodevelopmental Disorders,Liver carcinoma,Sleep disturbances,Autistic Disorder,Dyssomnias,Intellectual Disability,Developmental delay (disorder),Epilepsy,Atrial Septal Defects |
| 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 |