Detailed description page of humcfs

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GTF2H1 details
Primary information
gene_nameGTF2H1
Humcfs IdHumcfs_2988
chromosome_numberchromosome11
nameFRA11C
chrlocation16200001-21700000
cytoband11p15.1
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000110768
havana_transcript_idOTTHUMT00000395630
gene_location18351572-18365898
gene_orientation+
exon_idENSE00002185857, ENSE00003567660, ENSE00003639307, ENSE00003607586, ENSE00001763947, ENSE00002158008
exon_number6
gene_descriptiongeneral transcription factor IIH, polypeptide 1, 62kDa
disease_descriptionSquamous cell carcinoma,Spinocerebellar Ataxia Type 1,Frontotemporal dementia,Multiple System Atrophy,Asthma,Colorectal Cancer,Myofibrillar Myopathy,Prostate carcinoma,Shigella Infections,Bulbo-Spinal Atrophy, X-Linked,Hepatocarcinogenesis,Peripheral Neuropathy,Narcolepsy,Osteitis Deformans,Adenocarcinoma,Neurofibrillary degeneration (morphologic abnormality),Triple Negative Breast Neoplasms,Cockayne Syndrome,Disorder of skeletal system,Multisystem disorder,HIV Infections,Lung Neoplasms,Atrophy, Muscular, Spinobulbar,Breast Carcinoma,TIBIAL MUSCULAR DYSTROPHY, TARDIVE,Shy-Drager Syndrome,Non-Small Cell Lung Carcinoma,Xeroderma Pigmentosum, Complementation Group D,Malignant neoplasm of breast,Amyotrophic Lateral Sclerosis,Malignant neoplasm of lung,Xeroderma Pigmentosum,Diabetic Nephropathy,Premature aging syndrome,Pick Disease of the Brain,GRN-related frontotemporal dementia,Dengue Fever,Tremor,Frontotemporal Lobar Degeneration,Multiple Sclerosis,Steatohepatitis,Alzheimer's Disease,Mix
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID15771901
Get Gene Informations in: Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank
Primary information
gene_nameGTF2H1
Humcfs IdHumcfs_3285
chromosome_numberchromosome11
nameFRA11I
chrlocation16100001-21600000
cytoband11p15.1
typeDistamycinA
frequencyRare
gene_ensembl_idENSG00000110768
havana_transcript_idNA
gene_location18347104-18366275
gene_orientation+
exon_idENSE00002183823, ENSE00002177473, ENSE00002162635
exon_number3
gene_descriptiongeneral transcription factor IIH subunit 1
disease_descriptionXeroderma Pigmentosum
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID3169734
Get Gene Informations in: Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank