| exon_id | ENSE00002152572, ENSE00003564672, ENSE00003570131, ENSE00003506647, ENSE00003496015, ENSE00003586081, ENSE00003684369, ENSE00000339040, ENSE00000705382, ENSE00000705383, ENSE00000705385, ENSE000007053 |
| disease_description | Nonsyndromic Deafness,Malignant tumor of colon,Deafness, Autosomal Recessive 18,Retinal Degeneration,Sensorineural Hearing Loss (disorder),Colon Carcinoma,Retinal Diseases,Tobacco Use Disorder,Usher syndrome, type 1C,Usher syndrome, type 1A,Usher Syndrome,Hearing Loss, Mixed Conductive-Sensorineural,Autoimmune enteropathy,Autosomal recessive retinitis pigmentosa,Usher Syndrome, Type I,Adenocarcinoma of large intestine,Congenital deafness,USHER SYNDROME, TYPE IC |
| Primary information |
|---|
| gene_name | USH1C |
| Humcfs Id | Humcfs_3286 |
| chromosome_number | chromosome11 |
| name | FRA11I |
| chrlocation | 16100001-21600000 |
| cytoband | 11p15.1 |
| type | DistamycinA |
| frequency | Rare |
| gene_ensembl_id | ENSG00000006611 |
| havana_transcript_id | OTTHUMT00000389146 |
| gene_location | 17493895-17544416 |
| gene_orientation | - |
| exon_id | ENSE00002152572, ENSE00003564672, ENSE00003570131, ENSE00003506647, ENSE00003496015, ENSE00003586081, ENSE00003684369, ENSE00000339040, ENSE00000705382, ENSE00000705383, ENSE00000705385, ENSE000007053 |
| exon_number | 20 |
| gene_description | USH1 protein network component harmonin |
| disease_description | Nonsyndromic Deafness,Malignant tumor of colon,Deafness, Autosomal Recessive 18,Retinal Degeneration,Sensorineural Hearing Loss (disorder),Colon Carcinoma,Retinal Diseases,Tobacco Use Disorder,Usher syndrome, type 1C,Usher syndrome, type 1A,Usher Syndrome,Hearing Loss, Mixed Conductive-Sensorineural,Autoimmune enteropathy,Autosomal recessive retinitis pigmentosa,Usher Syndrome, Type I,Adenocarcinoma of large intestine,Congenital deafness,USHER SYNDROME, TYPE IC |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 3169734 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |