Detailed description page of humcfs

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Humcfs_2223 details
Primary information
Humcfs IdHumcfs_2223
chromosome_numberchromosome7
nameFRA7J
chrlocation59900001-77500000
cytoband7q11
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000049540
gene_nameELN
havana_transcript_idOTTHUMT00000348236
gene_location74028173-74069904
gene_orientation+
exon_idENSE00003476941, ENSE00003465672, ENSE00003522326, ENSE00003589573, ENSE00003492869, ENSE00003473499, ENSE00003622936, ENSE00001485530, ENSE00003480321, ENSE00001221659, ENSE00000843176, ENSE000037846
exon_number31
gene_descriptionelastin
disease_descriptionCongenital Abnormality,Brain Aneurysm,Congenital diaphragmatic hernia,DiGeorge Syndrome,Bronchopulmonary Dysplasia,Congenital emphysema,Intracranial Aneurysm,Linear atrophy,Panic Disorder,Choroidal Neovascularization,Congenital torticollis,Long QT Syndrome,Psoriasis,Aortic aneurysm without mention of rupture NOS,Pneumothorax,Scoliosis, unspecified,Fetal Membranes, Premature Rupture,Cardiovascular Diseases,PANIC DISORDER 1,Cutis Laxa,Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified,Myocardial Infarction,Hepatopulmonary Syndrome,Cardiovascular Abnormalities,Loeys-Dietz Syndrome,Adolescent idiopathic scoliosis,Varicosity,Hyalinosis, Systemic,Lung diseases,Borderline Personality Disorder,Leukemia, Myelocytic, Acute,Pulmonary Emphysema,Williams Syndrome,Kidney Failure, Chronic,Schimke immunoosseous dysplasia,Neurodevelopmental Disorders,Striae gravidarum,Age related macular degeneration,Osteopoikilosis (disorder),Macular degeneration
miRNA_location71307734-71307755
miRNA_strand+
miRNA_idMIMAT00181881
miRNA_namehsa-miR-3914
miRNA_derived MI0016421
TechniqueFISH
PMID16236432
Get Gene Informations in: Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank