Evidence Details for BRF1
Basic Information Top
Gene Symbol: | BRF1 ( BRF,FLJ42674,FLJ43034,GTF3B,MGC105048,TAF3B2,TAF3C,TAFIII90,TF3B90,TFIIIB90,hBRF ) |
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Gene Full Name: | BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) |
Band: | 14q32.33 |
Quick Links | Entrez ID:2972; OMIM: 604902; Uniprot ID:TF3B_HUMAN; ENSEMBL ID: ENSG00000185024; HGNC ID: 11551 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>BRF1|2972|nucleotide
ATGACGGGCCGCGTGTGCCGCGGTTGCGGCGGCACGGACATCGAGCTGGACGCGGCGCGCGGGGACGCGGTGTGCACCGCCTGCGGCTCAGTGCTGGAGGACAAC
ATCATCGTGTCCGAGGTGCAGTTCGTGGAGAGCAGCGGCGGCGGCTCCTCGGCCGTGGGCCAGTTCGTGTCCCTGGACGGTGCTGGCAAAACCCCGACTCTGGGT
GGCGGCTTCCACGTGAATCTGGGGAAGGAGTCGAGAGCGCAGACCCTGCAGAATGGGAGGCGCCACATCCACCACCTGGGGAACCAGCTGCAGCTGAACCAGCAC
TGCCTGGACACCGCCTTCAACTTCTTCAAGATGGCCGTGAGCAGGCACCTGACCCGCGGCCGGAAGATGGCCCACGTGATTGCTGCCTGCCTCTACCTGGTCTGC
CGTACGGAGGGCACGCCGCACATGCTCCTGGACCTCAGCGACCTGCTCCAGGTGAATGTGTACGTGCTTGGAAAGACGTTTCTTCTCTTGGCAAGAGAGCTCTGC
ATCAATGCGCCGGCCATAGACCCGTGCCTGTATATTCCACGCTTTGCGCACCTGCTGGAATTCGGGGAGAAGAACCACGAGGTGTCCATGACTGCCCTGAGGCTC
CTACAGAGGATGAAGCGGGACTGGATGCACACAGGCCGGCGCCCCTCGGGCCTCTGCGGAGCAGCGCTCCTGGTTGCAGCCAGAATGCATGACTTCAGGAGGACT
GTGAAGGAGGTCATCAGTGTGGTCAAAGTGTGTGAGTCCACGCTGCGGAAGAGGCTCACGGAATTTGAAGACACCCCCACCAGTCAGTTGACCATTGATGAGTTC
ATGAAGATCGACCTGGAGGAGGAGTGCGACCCCCCCTCGTACACAGCTGGGCAGAGGAAGCTGCGGATGAAGCAGCTTGAACAAGTCCTGTCAAAAAAACTGGAG
GAGGTTGAAGGTGAAATATCCAGTTACCAGGATGCAATTGAGATTGAACTAGAAAACAGCCGGCCAAAGGCCAAGGGGGGCCTGGCCAGCCTGGCAAAAGATGGC
TCCACCGAGGACACCGCGTCCAGCTTGTGTGGCGAGGAGGACACAGAGGACGAGGAGCTGGAAGCCGCGGCCAGCCACCTGAACAAAGACTTATACCGGGAGCTC
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ATGACGGGCCGCGTGTGCCGCGGTTGCGGCGGCACGGACATCGAGCTGGACGCGGCGCGCGGGGACGCGGTGTGCACCGCCTGCGGCTCAGTGCTGGAGGACAAC
ATCATCGTGTCCGAGGTGCAGTTCGTGGAGAGCAGCGGCGGCGGCTCCTCGGCCGTGGGCCAGTTCGTGTCCCTGGACGGTGCTGGCAAAACCCCGACTCTGGGT
GGCGGCTTCCACGTGAATCTGGGGAAGGAGTCGAGAGCGCAGACCCTGCAGAATGGGAGGCGCCACATCCACCACCTGGGGAACCAGCTGCAGCTGAACCAGCAC
TGCCTGGACACCGCCTTCAACTTCTTCAAGATGGCCGTGAGCAGGCACCTGACCCGCGGCCGGAAGATGGCCCACGTGATTGCTGCCTGCCTCTACCTGGTCTGC
CGTACGGAGGGCACGCCGCACATGCTCCTGGACCTCAGCGACCTGCTCCAGGTGAATGTGTACGTGCTTGGAAAGACGTTTCTTCTCTTGGCAAGAGAGCTCTGC
ATCAATGCGCCGGCCATAGACCCGTGCCTGTATATTCCACGCTTTGCGCACCTGCTGGAATTCGGGGAGAAGAACCACGAGGTGTCCATGACTGCCCTGAGGCTC
CTACAGAGGATGAAGCGGGACTGGATGCACACAGGCCGGCGCCCCTCGGGCCTCTGCGGAGCAGCGCTCCTGGTTGCAGCCAGAATGCATGACTTCAGGAGGACT
GTGAAGGAGGTCATCAGTGTGGTCAAAGTGTGTGAGTCCACGCTGCGGAAGAGGCTCACGGAATTTGAAGACACCCCCACCAGTCAGTTGACCATTGATGAGTTC
ATGAAGATCGACCTGGAGGAGGAGTGCGACCCCCCCTCGTACACAGCTGGGCAGAGGAAGCTGCGGATGAAGCAGCTTGAACAAGTCCTGTCAAAAAAACTGGAG
GAGGTTGAAGGTGAAATATCCAGTTACCAGGATGCAATTGAGATTGAACTAGAAAACAGCCGGCCAAAGGCCAAGGGGGGCCTGGCCAGCCTGGCAAAAGATGGC
TCCACCGAGGACACCGCGTCCAGCTTGTGTGGCGAGGAGGACACAGAGGACGAGGAGCTGGAAGCCGCGGCCAGCCACCTGAACAAAGACTTATACCGGGAGCTC
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>BRF1|2972|protein
MTGRVCRGCGGTDIELDAARGDAVCTACGSVLEDNIIVSEVQFVESSGGGSSAVGQFVSLDGAGKTPTLGGGFHVNLGKESRAQTLQNGRRHIHHLGNQLQLNQH
CLDTAFNFFKMAVSRHLTRGRKMAHVIAACLYLVCRTEGTPHMLLDLSDLLQVNVYVLGKTFLLLARELCINAPAIDPCLYIPRFAHLLEFGEKNHEVSMTALRL
LQRMKRDWMHTGRRPSGLCGAALLVAARMHDFRRTVKEVISVVKVCESTLRKRLTEFEDTPTSQLTIDEFMKIDLEEECDPPSYTAGQRKLRMKQLEQVLSKKLE
EVEGEISSYQDAIEIELENSRPKAKGGLASLAKDGSTEDTASSLCGEEDTEDEELEAAASHLNKDLYRELLGGAPGSSEAAGSPEWGGRPPALGSLLDPLPTAAS
LGISDSIRECISSQSSDPKDASGDGELDLSGIDDLEIDRYILNESEARVKAELWMRENAEYLREQREKEARIAKEKELGIYKEHKPKKSCKRREPIQASTAREAI
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MTGRVCRGCGGTDIELDAARGDAVCTACGSVLEDNIIVSEVQFVESSGGGSSAVGQFVSLDGAGKTPTLGGGFHVNLGKESRAQTLQNGRRHIHHLGNQLQLNQH
CLDTAFNFFKMAVSRHLTRGRKMAHVIAACLYLVCRTEGTPHMLLDLSDLLQVNVYVLGKTFLLLARELCINAPAIDPCLYIPRFAHLLEFGEKNHEVSMTALRL
LQRMKRDWMHTGRRPSGLCGAALLVAARMHDFRRTVKEVISVVKVCESTLRKRLTEFEDTPTSQLTIDEFMKIDLEEECDPPSYTAGQRKLRMKQLEQVLSKKLE
EVEGEISSYQDAIEIELENSRPKAKGGLASLAKDGSTEDTASSLCGEEDTEDEELEAAASHLNKDLYRELLGGAPGSSEAAGSPEWGGRPPALGSLLDPLPTAAS
LGISDSIRECISSQSSDPKDASGDGELDLSGIDDLEIDRYILNESEARVKAELWMRENAEYLREQREKEARIAKEKELGIYKEHKPKKSCKRREPIQASTAREAI
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Evidence summary Top
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Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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