Detailed description page of humcfs
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Humcfs_3181 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_3181 |
| chromosome_number | chromosome11 |
| name | FRA11H |
| chrlocation | 63400001-77100000 |
| cytoband | 11q13 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000162105 |
| gene_name | SHANK2 |
| havana_transcript_id | OTTHUMT00000327654 |
| gene_location | 70492432-70698769 |
| gene_orientation | - |
| exon_id | ENSE00001723330, ENSE00003739206, ENSE00003725705, ENSE00003726751, ENSE00001753044 |
| exon_number | 5 |
| gene_description | SH3 and multiple ankyrin repeat domains 2 |
| disease_description | Squamous cell carcinoma,Zinc deficiency,Impaired cognition,Carcinogenesis,Autism Spectrum Disorders,Intellectual Disability,nervous system disorder,Mild Mental Retardation,AUTISM, SUSCEPTIBILITY TO, 17,Autistic Disorder,Schizophrenia,Squamous cell carcinoma of esophagus,Mental Retardation,Profound intellectual disabilities,Obesity,Language Disorders,22q13.3 Deletion Syndrome,Atrial Septal Defects |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 23852038 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |