Detailed description page of humcfs
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GTF2H1 details |
Primary information | |
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gene_name | GTF2H1 |
Humcfs Id | Humcfs_2988 |
chromosome_number | chromosome11 |
name | FRA11C |
chrlocation | 16200001-21700000 |
cytoband | 11p15.1 |
type | Aphidicolin |
frequency | Common |
gene_ensembl_id | ENSG00000110768 |
havana_transcript_id | OTTHUMT00000395630 |
gene_location | 18351572-18365898 |
gene_orientation | + |
exon_id | ENSE00002185857, ENSE00003567660, ENSE00003639307, ENSE00003607586, ENSE00001763947, ENSE00002158008 |
exon_number | 6 |
gene_description | general transcription factor IIH, polypeptide 1, 62kDa |
disease_description | Squamous 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_location | NA |
miRNA_strand | NA |
miRNA_id | NA |
miRNA_name | NA |
miRNA_derived | NA |
Technique | Karyotyping |
PMID | 15771901 |
Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |
Primary information | |
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gene_name | GTF2H1 |
Humcfs Id | Humcfs_3285 |
chromosome_number | chromosome11 |
name | FRA11I |
chrlocation | 16100001-21600000 |
cytoband | 11p15.1 |
type | DistamycinA |
frequency | Rare |
gene_ensembl_id | ENSG00000110768 |
havana_transcript_id | NA |
gene_location | 18347104-18366275 |
gene_orientation | + |
exon_id | ENSE00002183823, ENSE00002177473, ENSE00002162635 |
exon_number | 3 |
gene_description | general transcription factor IIH subunit 1 |
disease_description | Xeroderma Pigmentosum |
miRNA_location | NA |
miRNA_strand | NA |
miRNA_id | NA |
miRNA_name | NA |
miRNA_derived | NA |
Technique | Karyotyping |
PMID | 3169734 |
Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |