Detailed description page of humcfs
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Humcfs_3209 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_3209 |
| chromosome_number | chromosome11 |
| name | FRA11H |
| chrlocation | 63400001-77100000 |
| cytoband | 11q13 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000172638 |
| gene_name | EFEMP2 |
| havana_transcript_id | OTTHUMT00000391880 |
| gene_location | 65866447-65868007 |
| gene_orientation | - |
| exon_id | ENSE00003477102, ENSE00002194682, ENSE00002170152 |
| exon_number | 3 |
| gene_description | EGF containing fibulin-like extracellular matrix protein 2 |
| disease_description | Dissecting aneurysm of the thoracic aorta,Exfoliation Syndrome,Cardiovascular Pathology,Malignant neoplasm of breast,Breast Carcinoma,Arteriopathic disease,Cerebral Vasospasm,Degenerative polyarthritis,Muscular Dystrophy,Cutis Laxa,Malattia Leventinese,Microcephaly,Ovarian Carcinoma,Epithelial ovarian cancer,Tumor Progression,Rheumatoid Arthritis,Prostatic Neoplasms,Glaucoma,Retinal Diseases,Systemic Scleroderma,Arachnodactyly,CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB,Cutis Laxa, Autosomal Recessive, Type I,Cutis laxa, recessive,Malignant neoplasm of ovary,Colonic Neoplasms,Cutis laxa, recessive, type I,Aneurysm |
| 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 |