AutismKB 2.0

Evidence Details for UBTF


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Basic Information Top
Gene Symbol:UBTF ( NOR-90,UBF )
Gene Full Name: upstream binding transcription factor, RNA polymerase I
Band: 17q21.31
Quick LinksEntrez ID:7343; OMIM: 600673; Uniprot ID:UBF1_HUMAN; ENSEMBL ID: ENSG00000108312; HGNC ID: 12511
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBTF|7343|nucleotide
ATGAACGGAGAAGCCGACTGCCCCACAGACCTGGAAATGGCCGCCCCCAAAGGCCAAGACCGTTGGTCCCAGGAAGACATGCTGACTTTGCTGGAATGCATGAAG
AACAACCTTCCATCCAATGACAGCTCCAAGTTCAAAACCACCGAATCACACATGGACTGGGAAAAAGTAGCATTTAAAGACTTTTCTGGAGACATGTGCAAGCTC
AAATGGGTGGAGATTTCTAATGAGGTGAGGAAGTTCCGTACATTGACAGAATTGATCCTCGATGCTCAGGAACATGTTAAAAATCCTTACAAAGGCAAAAAACTC
AAGAAACACCCAGACTTCCCAAAGAAGCCCCTGACCCCTTATTTCCGCTTCTTCATGGAGAAGCGGGCCAAGTATGCGAAACTCCACCCTGAGATGAGCAACCTG
GACCTAACCAAGATTCTGTCCAAGAAATACAAGGAGCTTCCGGAGAAGAAGAAGATGAAATATATTCAGGACTTCCAGAGAGAGAAACAGGAGTTCGAGCGAAAC
CTGGCCCGATTCAGGGAGGATCACCCCGACCTAATCCAGAATGCCAAGAAATCGGACATCCCAGAGAAGCCCAAAACCCCCCAGCAGCTGTGGTACACCCACGAG
AAGAAGGTGTATCTCAAAGTGCGGCCAGATGAGATCATGAGAGACTATATCCAGAAGCACCCAGAGCTGAACATCAGTGAGGAGGGTATCACCAAGTCCACCCTC
ACCAAGGCCGAACGCCAGCTCAAGGACAAGTTTGACGGGCGACCCACCAAGCCACCTCCGAACAGCTACTCGCTGTACTGCGCAGAGCTCATGGCCAACATGAAG
GACGTGCCCAGCACAGAGCGCATGGTGCTGTGCAGCCAGCAGTGGAAGCTGCTGTCCCAGAAGGAGAAGGACGCCTATCACAAGAAGTGTGATCAGAAAAAGAAA
GATTACGAGGTGGAGCTGCTCCGTTTCCTCGAGAGCCTGCCTGAGGAGGAGCAGCAGCGGGTCTTGGGGGAAGAGAAGATGCTGAACATCAACAAGAAGCAGGCC
ACCAGCCCCGCCTCCAAGAAGCCAGCCCAGGAAGGGGGCAAGGGCGGCTCCGAGAAGCCCAAGCGGCCCGTGTCGGCCATGTTCATCTTCTCGGAGGAGAAACGG
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>UBTF|7343|protein
MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEVRKFRTLTELILDAQEHVKNPYKGKKL
KKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMKYIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHE
KKVYLKVRPDEIMRDYIQKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKPPPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKK
DYEVELLRFLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYK
AREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMK
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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
Score (No. of Studies) No 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top