AutismKB 2.0

Evidence Details for U2AF2


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Basic Information Top
Gene Symbol:U2AF2 ( U2AF65 )
Gene Full Name: U2 small nuclear RNA auxiliary factor 2
Band: 19q13.43
Quick LinksEntrez ID:11338; OMIM: 191318; Uniprot ID:U2AF2_HUMAN; ENSEMBL ID: ENSG00000063244; HGNC ID: 23156
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>U2AF2|11338|nucleotide
ATGTCGGACTTCGACGAGTTCGAGCGGCAGCTCAACGAGAATAAACAAGAGCGGGACAAGGAGAACCGGCATCGGAAGCGCAGCCACAGCCGCTCTCGGAGCCGG
GACCGCAAACGCCGGAGCCGGAGCCGCGACCGGCGCAACCGGGACCAGCGGAGCGCCTCCCGGGACAGGCGACGACGCAGCAAACCTTTGACCAGAGGCGCTAAA
GAGGAGCACGGTGGACTGATTCGTTCCCCCCGCCACGAGAAGAAGAAGAAGGTCCGTAAATACTGGGACGTGCCACCCCCAGGCTTTGAGCACATCACCCCAATG
CAGTACAAGGCCATGCAAGCTGCGGGTCAGATTCCAGCCACTGCTCTTCTCCCCACCATGACCCCTGACGGTCTGGCTGTGACCCCAACGCCGGTGCCCGTGGTC
GGGAGCCAGATGACCAGACAAGCCCGGCGCCTCTACGTGGGCAACATCCCCTTTGGCATCACTGAGGAGGCCATGATGGATTTCTTCAACGCCCAGATGCGCCTG
GGGGGGCTGACCCAGGCCCCTGGCAACCCAGTGTTGGCTGTGCAGATTAACCAGGACAAGAATTTTGCCTTTTTGGAGTTCCGCTCAGTGGACGAGACTACCCAG
GCTATGGCCTTTGATGGCATCATCTTCCAGGGCCAGTCACTAAAGATCCGCAGGCCTCACGACTACCAGCCGCTTCCTGGCATGTCAGAGAACCCCTCCGTCTAT
GTGCCTGGGGTTGTGTCCACTGTGGTCCCCGACTCTGCCCACAAGCTGTTCATCGGGGGCTTACCCAACTACCTGAACGATGACCAGGTCAAAGAGCTGCTGACA
TCCTTTGGGCCCCTCAAGGCCTTCAACCTGGTCAAGGACAGTGCCACGGGGCTCTCCAAGGGCTACGCCTTCTGTGAGTACGTGGACATCAACGTCACGGATCAG
GCCATTGCGGGGCTGAACGGCATGCAGCTGGGGGATAAGAAGCTGCTGGTCCAGAGGGCGAGTGTGGGAGCCAAGAATGCCACGCTGAGCACCATCAATCAGACG
CCTGTGACCCTGCAAGTGCCGGGCTTGATGAGCTCCCAGGTGCAGATGGGCGGCCACCCGACTGAGGTCCTGTGCCTCATGAACATGGTGCTGCCTGAGGAGCTG
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>U2AF2|11338|protein
MSDFDEFERQLNENKQERDKENRHRKRSHSRSRSRDRKRRSRSRDRRNRDQRSASRDRRRRSKPLTRGAKEEHGGLIRSPRHEKKKKVRKYWDVPPPGFEHITPM
QYKAMQAAGQIPATALLPTMTPDGLAVTPTPVPVVGSQMTRQARRLYVGNIPFGITEEAMMDFFNAQMRLGGLTQAPGNPVLAVQINQDKNFAFLEFRSVDETTQ
AMAFDGIIFQGQSLKIRRPHDYQPLPGMSENPSVYVPGVVSTVVPDSAHKLFIGGLPNYLNDDQVKELLTSFGPLKAFNLVKDSATGLSKGYAFCEYVDINVTDQ
AIAGLNGMQLGDKKLLVQRASVGAKNATLSTINQTPVTLQVPGLMSSQVQMGGHPTEVLCLMNMVLPEELLDDEEYEEIVEDVRDECSKYGLVKSIEIPRPVDGV
EVPGCGKIFVEFTSVFDCQKAMQGLTGRKFANRVVVTKYCDPDSYHRRDFW
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top