Evidence Details for USP30
Basic Information Top
Gene Symbol: | USP30 ( FLJ40511,MGC10702 ) |
---|---|
Gene Full Name: | ubiquitin specific peptidase 30 |
Band: | 12q24.11 |
Quick Links | Entrez 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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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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MLSSRAEAAMTAADRAIQRFLRTGAAVRYKVMKNWGVIGGIAAALAAGIYVIWGPITERKKRRKGLVPGLVNLGNTCFMNSLLQGLSACPAFIRWLEEFTSQYSR
DQKEPPSHQYLSLTLLHLLKALSCQEVTDDEVLDASCLLDVLRMYRWQISSFEEQDAHELFHVITSSLEDERDRQPRVTHLFDVHSLEQQSEITPKQITCRTRGS
PHPTSNHWKSQHPFHGRLTSNMVCKHCEHQSPVRFDTFDSLSLSIPAATWGHPLTLDHCLHHFISSESVRDVVCDNCTKIEAKGTLNGEKVEHQRTTFVKQLKLG
KLPQCLCIHLQRLSWSSHGTPLKRHEHVQFNEFLMMDIYKYHLLGHKPSQHNPKLNKNPGPTLELQDGPGAPTPVLNQPGAPKTQIFMNGACSPSLLPTLSAPMP
FPLPVVPDYSSSTYLFRLMAVVVHHGDMHSGHFVTYRRSPPSARNPLSTSNQWLWVSDDTVRKASLQEVLSSSAYLLFYERVLSRMQHQSQECKSEE
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 microarray | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Bi C, 2012 | China | GAII | - | - | - | - | 67 | - |
Low Scale Gene Studies Top
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