AutismKB 2.0

Evidence Details for UTP14C


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Basic Information Top
Gene Symbol:UTP14C ( 2700066J21Rik,KIAA0266,MGC104971,UTP14B )
Gene Full Name: UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)
Band: 13q14.3
Quick LinksEntrez ID:9724; OMIM: 608969; Uniprot ID:UT14C_HUMAN; ENSEMBL ID: ENSG00000214320; HGNC ID: 20321
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UTP14C|9724|nucleotide
ATGAATGTGAACCAGGTTGCAGAGAATCTGGCTTTGAGCCACCAGGAAGAACTAGTGGATTTGCCAAAAAACTACCCCTTGAGTGAAAATGAAGATGAGGGGGAC
AGTGATGGAGAGAGAAAGCATCAAAAGCTTCTGGAAGCAATCATTTCCCTTGATGGAAAGAATAGGCGGAAATTGGCTGAGAGGTCTGAGGCTAGTCTGAAAGTG
TCAGAGTTCAGTGTCAGTTCTGAAGGATCAGGAGAAAAGCTGGGCCTTGCAGATCTGCTTGAGCCCGTTAAAACTTCATCTTCTTTGGCCACTGTAAAAAAGCAA
CTGAATAGAGTCAAATCAAAGAAGGTGGTGGAGTTACCTCTTAACAAAGAAAAAATTGAACAGATCCACAGAGAAGTAGCATTCAGTAAAACCTCACAGGTCCTC
TCCAAATGGGACCCTATCATCCTGAAGAACCAGCAGGCAGAGCAGCTGGTTTTTCCCCTGGGGAAGGAGCAGCCAGCCATTGCTCCCATTGAACATGCGCTCAGT
GGCTGGAAGGCAAGAACTCCCCTGGAGCAGGAAATTTTTAACCTCCTCCATAAGAACAAGCAGCCAGTGACAGATCCTTTACTGACTCCCATGGAAAAGGCCTCT
CTCCAAGCCATGAGCCTGGAAGAGGCAAAGATGCACCGAGCAGAGCTTCAGAGGGCTCGGGCTCTGCAGTCCTACTATGAGGCCAAGGCTCGAAAAGAGAAGAAA
ATCAAAAGTAAAAAGTATCACAAAGTCGTGAAGAAAGGAAAGGCCAAGAAAGCCTTAAAAGAGTTTGAGCAGCTACAGAAGGTTAATCCAACTGTGGCACTGGAA
GAAATGGAAAAAATTGAAAATGCCAGAATGATGGAAAGAATGAGCCTTAAGCACCAAAACAGTGGGAAATGGGCCAAGTCAAAGGCAATTATGGCCAAATATGAC
CTGGAGGCTCGCCAAGCTATGCAGGAACAGTTGGCCAAGAACAAAGAACTGACACAGAAACTCCAGGTAGCCTCTGAGAGTGAGGAAGAGGAGGGAGGCACAGAA
GTGGAAGAACTCCTTGTCCCTCATGTAGCGAATGAAGTGCAGATGAATGTGGACGGACCGAATCCCTGGATGTTCAGGAGCTGCACCAGTGACACCAAAGAGGCT
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>UTP14C|9724|protein
MNVNQVAENLALSHQEELVDLPKNYPLSENEDEGDSDGERKHQKLLEAIISLDGKNRRKLAERSEASLKVSEFSVSSEGSGEKLGLADLLEPVKTSSSLATVKKQ
LNRVKSKKVVELPLNKEKIEQIHREVAFSKTSQVLSKWDPIILKNQQAEQLVFPLGKEQPAIAPIEHALSGWKARTPLEQEIFNLLHKNKQPVTDPLLTPMEKAS
LQAMSLEEAKMHRAELQRARALQSYYEAKARKEKKIKSKKYHKVVKKGKAKKALKEFEQLQKVNPTVALEEMEKIENARMMERMSLKHQNSGKWAKSKAIMAKYD
LEARQAMQEQLAKNKELTQKLQVASESEEEEGGTEVEELLVPHVANEVQMNVDGPNPWMFRSCTSDTKEAATQEDPEQVPELAAHEVSASEAEERPVAEEEILLR
EFEERQSLRKRSELNQDAEPASSQETKDSSSQEVLSELRALSQKLKEKHQSRKQKASSEGTVPQVQREEPAPEEAEPLLLQRSERVQTLEELEELGKEDCFQNKE
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top