Detailed description page of humcfs

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KMT2D details
Primary information
gene_nameKMT2D
Humcfs IdHumcfs_3374
chromosome_numberchromosome12
nameFRA12A
chrlocation46400001-54900000
cytoband12q13.1
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000167548
havana_transcript_idOTTHUMT00000390182
gene_location49021578-49024624
gene_orientation-
exon_idENSE00001409153, ENSE00001272945, ENSE00001272955, ENSE00001272962, ENSE00002148076, ENSE00002185348
exon_number6
gene_descriptionlysine (K)-specific methyltransferase 2D
disease_descriptionSquamous cell carcinoma,Intellectual Disability,Congenital Abnormality,Colorectal Cancer,Congenital malformation syndrome,Diffuse Large B-Cell Lymphoma,Precursor Cell Lymphoblastic Leukemia Lymphoma,Neurodevelopmental Disorders,Liver carcinoma,Proliferative diabetic retinopathy,Nonproliferative diabetic retinopathy,Kabuki make-up syndrome,Diabetic Retinopathy,Multiple Myeloma,Non-Small Cell Lung Carcinoma,Malignant neoplasm of breast,Dwarfism,Breast Carcinoma,B-Cell Lymphomas,Sarcoma, Spindle Cell,Malignant neoplasm of prostate,Congenital anomaly of the kidney,Sensorineural Hearing Loss (disorder),Diabetes Mellitus, Insulin-Dependent,Mammary Neoplasms,Hematologic Neoplasms,Acute lymphocytic leukemia,Cutis Laxa,Lymphoma,Phyllodes Tumor,Diabetes,Leukemogenesis,Sezary Syndrome,Malignant tumor of colon,Mental Retardation,Solid tumour,Carcinogenesis,Kidney Diseases,Conventional (Clear Cell) Renal Cell Carcinoma,Medulloblastoma,Pancreatic carcinoma,Colorectal Carcinoma,Hepatitis B,Peripheral
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID8833161
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