AutismKB 2.0

Evidence Details for HNRNPU


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Basic Information Top
Gene Symbol:HNRNPU ( HNRPU,SAF-A,U21.1,hnRNP U )
Gene Full Name: heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
Band: 1q44
Quick LinksEntrez ID:3192; OMIM: 602869; Uniprot ID:HNRPU_HUMAN; ENSEMBL ID: ENSG00000153187; HGNC ID: 5048
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HNRNPU|3192|nucleotide
ATGAGTTCCTCGCCTGTTAATGTAAAAAAGCTGAAGGTGTCGGAGCTGAAAGAGGAGCTCAAGAAGCGACGCCTTTCTGACAAGGGTCTCAAGGCCGAGCTCATG
GAGCGACTCCAGGCTGCGCTGGACGACGAGGAGGCCGGGGGCCGCCCCGCCATGGAGCCCGGGAACGGCAGCCTAGACCTGGGCGGGGATTCCGCTGGGCGCTCG
GGAGCAGGCCTCGAGCAGGAGGCCGCGGCCGGCGGCGATGAAGAGGAGGAGGAAGAGGAAGAGGAGGAGGAAGGAATCTCCGCTCTGGACGGCGACCAGATGGAG
CTAGGAGAGGAGAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGGAGGAGGCCGCCTCGGAAGACGAGAACGGCGACGATCAGGGTTTCCAGGAA
GGGGAAGATGAGCTCGGGGACGAAGAGGAAGGCGCGGGCGACGAGAACGGGCACGGGGAGCAGCAGCCTCAACCGCCGGCGACGCAGCAGCAACAGCCCCAACAG
CAGCGCGGGGCCGCCAAGGAGGCCGCGGGGAAGAGCAGCGGCCCCACCTCGCTGTTCGCGGTGACGGTGGCGCCGCCCGGGGCGAGGCAGGGCCAGCAGCAGGCG
GGAGGGGACGGCAAAACAGAACAGAAAGGCGGAGATAAAAAGAGGGGTGTTAAAAGACCACGAGAAGATCATGGCCGTGGATATTTTGAGTACATTGAAGAGAAC
AAGTATAGCAGAGCCAAATCTCCTCAGCCACCTGTTGAAGAAGAAGATGAACACTTCGATGACACAGTGGTTTGTCTTGATACTTATAATTGTGATCTACATTTT
AAAATATCAAGAGATCGTCTCAGTGCTTCTTCCCTTACAATGGAGAGTTTTGCTTTTCTTTGGGCTGGAGGAAGAGCATCCTATGGTGTGTCAAAAGGCAAAGTG
TGTTTTGAGATGAAGGTTACAGAGAAGATCCCAGTAAGGCATTTATATACAAAAGATATTGACATACATGAAGTTCGTATTGGCTGGTCACTAACTACAAGTGGA
ATGTTACTTGGTGAAGAAGAATTTTCTTATGGGTATTCTCTAAAAGGAATAAAAACATGCAACTGTGAGACTGAAGATTATGGAGAAAAGTTTGATGAAAATGAT
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>HNRNPU|3192|protein
MSSSPVNVKKLKVSELKEELKKRRLSDKGLKAELMERLQAALDDEEAGGRPAMEPGNGSLDLGGDSAGRSGAGLEQEAAAGGDEEEEEEEEEEEGISALDGDQME
LGEENGAAGAADSGPMEEEEAASEDENGDDQGFQEGEDELGDEEEGAGDENGHGEQQPQPPATQQQQPQQQRGAAKEAAGKSSGPTSLFAVTVAPPGARQGQQQA
GGDGKTEQKGGDKKRGVKRPREDHGRGYFEYIEENKYSRAKSPQPPVEEEDEHFDDTVVCLDTYNCDLHFKISRDRLSASSLTMESFAFLWAGGRASYGVSKGKV
CFEMKVTEKIPVRHLYTKDIDIHEVRIGWSLTTSGMLLGEEEFSYGYSLKGIKTCNCETEDYGEKFDENDVITCFANFESDEVELSYAKNGQDLGVAFKISKEVL
AGRPLFPHVLCHNCAVEFNFGQKEKPYFPIPEEYTFIQNVPLEDRVRGPKGPEEKKDCEVVMMIGLPGAGKTTWVTKHAAENPGKYNILGTNTIMDKMMVAGFKK
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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) 1 (1) 0 (0) 0 (1) 0 (1) 0 (0) 5 (5)
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
Yuen RK, 2016 - WGSASD 200 - - - 200 - -
Linkage Studies Top