Detailed description page of humcfs

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IMMT details
Primary information
gene_nameIMMT
Humcfs IdHumcfs_980
chromosome_numberchromosome2
nameFRA2L
chrlocation83300001-90500000
cytoband2q22.3
typeFolic acid
frequencyRare
gene_ensembl_idENST00000442664
havana_transcript_idOTTHUMT00000376484
gene_location86143936-86195403
gene_orientation-
exon_idENSE00001603077, ENSE00001678065, ENSE00001730137, ENSE00001579120, ENSE00002515793, ENSE00000768002, ENSE00003510496, ENSE00003620029, ENSE00003609200, ENSE00001580152, ENSE00003502701, ENSE000036026
exon_number15
gene_descriptioninner membrane protein, mitochondrial
disease_descriptionSeizures,Paresis,Prostate carcinoma,Mainzer-Saldino Disease,Depletion of mitochondrial DNA,Exanthema,Neoplasm Metastasis,Cardiomyopathy, Hypertrophic, Familial,Malignant neoplasm of breast,Neurofibromatoses,Malignant neoplasm of prostate,Anthrax disease,Spots on skin,Sensorineural Hearing Loss (disorder),Degenerative polyarthritis,Breast Carcinoma,Jeune thoracic dystrophy,Multiple Sclerosis,Down Syndrome,Diabetes,Kidney Failure,Tumor Progression,Inflammatory Bowel Diseases,Central neuroblastoma,Spastic Paraplegia, Hereditary,Neurofibromatosis 1,Peripheral Neuropathy,Diabetes Mellitus,Malignant neoplasm of pancreas,Kidney Failure, Chronic,Brain Neoplasms,Pancreatic carcinoma,Neuroblastoma,Blast Phase,Schizophrenia,Muscle Weakness,Adenocarcinoma of lung (disorder),Clumsiness - motor delay
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID2254969
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