AutismKB 2.0

Evidence Details for USP31


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Basic Information Top
Gene Symbol:USP31 ( KIAA1203 )
Gene Full Name: ubiquitin specific peptidase 31
Band: 16p12.2
Quick LinksEntrez ID:57478; OMIM: NA; Uniprot ID:UBP31_HUMAN; ENSEMBL ID: ENSG00000103404; HGNC ID: 20060
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP31|57478|nucleotide
ATGTCCAAGGTAACGGCGCCTGGGTCCGGGCCGCCGGCGGCGGCGAGCGGGAAGGAGAAGCGCTCCTTCAGCAAGCGGCTGTTTCGGAGCGGCCGCGCTGGCGGC
GGCGGCGCGGGGGGCCCCGGGGCGTCCGGGCCGGCCGCGCCTTCCTCGCCCTCCTCGCCCTCCTCTGCACGCTCGGTGGGCAGCTTCATGAGCCGCGTTCTCAAG
ACGCTGTCCACGCTCTCGCACCTTAGCTCTGAGGGCGCCGCCCCAGACCGCGGCGGCCTCCGCAGCTGCTTCCCGCCCGGGCCGGCCGCCGCGCCCACGCCGCCG
CCGTGCCCGCCGCCGCCCGCCTCTCCCGCGCCGCCCGCTTGCGCCGCCGAGCCGGTGCCCGGCGTGGCGGGGCTCCGCAACCACGGCAACACGTGCTTCATGAAC
GCCACGCTGCAGTGCCTCAGCAACACCGAGCTCTTCGCCGAGTACCTGGCGCTGGGCCAGTACCGGGCGGGGCGGCCCGAGCCCTCGCCTGACCCGGAGCAGCCT
GCGGGCCGCGGCGCGCAGGGCCAGGGCGAGGTCACTGAGCAGCTGGCGCACCTGGTGCGGGCCCTCTGGACCCTGGAGTACACCCCGCAGCACAGCCGCGACTTC
AAGACTATTGTGTCAAAGAATGCACTGCAGTACCGGGGAAATTCCCAACATGATGCCCAGGAGTTTCTGCTGTGGCTTTTGGACCGAGTTCATGAAGACCTCAAC
CATTCAGTGAAGCAGAGTGGCCAGCCTCCTCTGAAGCCACCATCAGAGACTGATATGATGCCTGAGGGACCATCTTTCCCTGTCTGTAGCACTTTTGTACAAGAA
CTCTTTCAAGCGCAATACAGATCTTCTTTGACGTGTCCTCATTGTCAGAAACAGAGCAACACTTTTGATCCTTTCCTTTGCATTTCTTTGCCAATTCCTCTGCCC
CACACAAGGCCTCTCTATGTCACTGTAGTGTATCAAGGCAAATGTTCTCACTGCATGAGGATTGGTGTGGCCGTACCTCTGTCTGGGACTGTCGCCAGACTTCGG
GAAGCAGTGTCTATGGAAACAAAGATCCCCACTGATCAGATTGTGTTAACAGAAATGTACTATGATGGGTTCCATCGTTCCTTTTGTGATACAGACGACCTGGAA
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>USP31|57478|protein
MSKVTAPGSGPPAAASGKEKRSFSKRLFRSGRAGGGGAGGPGASGPAAPSSPSSPSSARSVGSFMSRVLKTLSTLSHLSSEGAAPDRGGLRSCFPPGPAAAPTPP
PCPPPPASPAPPACAAEPVPGVAGLRNHGNTCFMNATLQCLSNTELFAEYLALGQYRAGRPEPSPDPEQPAGRGAQGQGEVTEQLAHLVRALWTLEYTPQHSRDF
KTIVSKNALQYRGNSQHDAQEFLLWLLDRVHEDLNHSVKQSGQPPLKPPSETDMMPEGPSFPVCSTFVQELFQAQYRSSLTCPHCQKQSNTFDPFLCISLPIPLP
HTRPLYVTVVYQGKCSHCMRIGVAVPLSGTVARLREAVSMETKIPTDQIVLTEMYYDGFHRSFCDTDDLETVHESDCIFAFETPEIFRPEGILSQRGIHLNNNLN
HLKFGLDYHRLSSPTQTAAKQGKMDSPTSRAGSDKIVLLVCNRACTGQQGKRFGLPFVLHLEKTIAWDLLQKEILEKMKYFLRPTVCIQVCPFSLRVVSVVGITY
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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) 0 (1) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top