Detailed description page of humcfs

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TBX5 details
Primary information
gene_nameTBX5
Humcfs IdHumcfs_3472
chromosome_numberchromosome12
nameFRA12C
chrlocation114300001-120700000
cytoband12q24.2
typeBrdU
frequencyRare
gene_ensembl_idENSG00000089225
havana_transcript_idOTTHUMT00000388299
gene_location114366097-114403898
gene_orientation-
exon_idENSE00002256205, ENSE00001589877, ENSE00001582631, ENSE00003508688, ENSE00003493097, ENSE00003522498, ENSE00002202099
exon_number7
gene_descriptionT-box 5
disease_descriptionHolt-Oram syndrome,Familial dilated cardiomyopathy,Limb Deformities, Congenital,Congenital Abnormality,Osteosarcoma of bone,Townes syndrome,Deformity of limb,Stomach Carcinoma,Narcolepsy,Fibrillation,Teratocarcinoma,Malocclusion,Ventricular Septal Defects,HIV Infections,Malignant neoplasm of breast,Atrial Septal Defects,Congenital heart disease,Coronary heart disease,Tetralogy of Fallot,Fibrosarcoma,Carcinoma of bladder,Neuroblastoma,High grade atrioventricular block,Tracheal Stenosis,Mixed Neoplasm,Electrocardiogram: P-R interval,Small cell carcinoma of lung,Aortic coarctation,Myocardial Infarction,Congenital defects,Myocardial Disorder,Cardiomyopathy, Dilated,Retinopathy of Prematurity,Central neuroblastoma,Epithelioma,Atrial Fibrillation,Limb defects,Breast Carcinoma,Pancreatic carcinoma,Cardiac defects,Mixed Salivary Gland Tumor,Barrett Esophagus,Endocardial Cushion Defects,Congenital Heart Defects,Hypertensive disease,Liver carcinoma,Heart Septal Defects,Osteosarcoma,Brugada Syndr
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID3338802
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