AutismKB 2.0

Evidence Details for USP30


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Basic Information Top
Gene Symbol:USP30 ( FLJ40511,MGC10702 )
Gene Full Name: ubiquitin specific peptidase 30
Band: 12q24.11
Quick LinksEntrez ID:84749; OMIM: 612492; Uniprot ID:UBP30_HUMAN; ENSEMBL ID: ENSG00000135093; HGNC ID: 20065
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP30|84749|nucleotide
ATGCTGAGCTCCCGGGCCGAGGCGGCGATGACCGCGGCCGACAGGGCCATCCAGCGCTTCCTGCGGACCGGGGCGGCCGTCAGATATAAAGTCATGAAGAACTGG
GGAGTTATAGGTGGAATTGCTGCTGCTCTTGCAGCAGGAATATATGTTATTTGGGGTCCCATTACAGAAAGAAAGAAGCGTAGAAAAGGGCTTGTGCCTGGCCTT
GTTAATTTAGGGAACACCTGCTTCATGAACTCCCTGCTACAAGGCCTGTCTGCCTGTCCTGCTTTCATCAGGTGGCTGGAAGAGTTCACCTCCCAGTACTCCAGG
GATCAGAAGGAGCCCCCCTCACACCAGTATTTATCCTTAACACTCTTGCACCTTCTGAAAGCCTTGTCCTGCCAAGAAGTTACTGATGATGAGGTCTTAGATGCA
AGCTGCTTGTTGGATGTCTTAAGAATGTACAGATGGCAGATCTCATCATTTGAAGAACAGGATGCTCACGAATTATTCCATGTCATTACCTCGTCATTGGAAGAT
GAGCGAGACCGCCAGCCTCGGGTCACACATTTGTTTGATGTGCATTCCCTGGAGCAGCAGTCAGAAATAACTCCCAAACAAATTACCTGCCGCACAAGAGGGTCA
CCTCACCCTACATCCAATCACTGGAAGTCTCAACATCCTTTTCATGGAAGACTCACTAGTAATATGGTCTGCAAACACTGTGAACACCAGAGTCCTGTTCGATTT
GATACCTTTGATAGCCTTTCACTAAGTATTCCAGCCGCCACATGGGGTCACCCATTGACCCTGGACCACTGCCTTCACCACTTCATCTCATCAGAATCAGTGCGG
GATGTTGTGTGTGACAACTGTACAAAGATTGAAGCCAAGGGAACGTTGAACGGGGAAAAGGTGGAACACCAGAGGACCACTTTTGTTAAACAGTTAAAACTAGGG
AAGCTCCCTCAGTGTCTCTGCATCCACCTACAGCGGCTGAGCTGGTCCAGCCACGGCACGCCTCTGAAGCGGCATGAGCACGTGCAGTTCAATGAGTTCCTGATG
ATGGACATTTACAAGTACCACCTCCTTGGACATAAACCTAGTCAACACAACCCTAAACTGAACAAGAACCCAGGGCCTACACTGGAGCTGCAGGATGGGCCGGGA
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>USP30|84749|protein
MLSSRAEAAMTAADRAIQRFLRTGAAVRYKVMKNWGVIGGIAAALAAGIYVIWGPITERKKRRKGLVPGLVNLGNTCFMNSLLQGLSACPAFIRWLEEFTSQYSR
DQKEPPSHQYLSLTLLHLLKALSCQEVTDDEVLDASCLLDVLRMYRWQISSFEEQDAHELFHVITSSLEDERDRQPRVTHLFDVHSLEQQSEITPKQITCRTRGS
PHPTSNHWKSQHPFHGRLTSNMVCKHCEHQSPVRFDTFDSLSLSIPAATWGHPLTLDHCLHHFISSESVRDVVCDNCTKIEAKGTLNGEKVEHQRTTFVKQLKLG
KLPQCLCIHLQRLSWSSHGTPLKRHEHVQFNEFLMMDIYKYHLLGHKPSQHNPKLNKNPGPTLELQDGPGAPTPVLNQPGAPKTQIFMNGACSPSLLPTLSAPMP
FPLPVVPDYSSSTYLFRLMAVVVHHGDMHSGHFVTYRRSPPSARNPLSTSNQWLWVSDDTVRKASLQEVLSSSAYLLFYERVLSRMQHQSQECKSEE
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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 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top