AutismKB 2.0

Evidence Details for USP11


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Basic Information Top
Gene Symbol:USP11 ( UHX1 )
Gene Full Name: ubiquitin specific peptidase 11
Band: Xp11.3
Quick LinksEntrez ID:8237; OMIM: 300050; Uniprot ID:UBP11_HUMAN; ENSEMBL ID: ENSG00000102226; HGNC ID: 12609
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP11|8237|nucleotide
ATGGCAGTAGCCCCGCGACTGTTTGGGGGGCTCTGCTTCCGTTTCCGGGACCAGAATCCGGAAGTGGCTGTTGAGGGGCGTCTTCCAATCTCGCACAGCTGCGTT
GGCTGTAGAAGAGAACGGACGGCGATGGCGACGGTCGCAGCAAATCCAGCTGCTGCTGCGGCGGCTGTGGCGGCGGCAGCGGCGGTGACTGAGGATAGAGAGCCA
CAGCACGAGGAGCTGCCAGGCCTGGACAGCCAGTGGCGCCAGATAGAAAACGGCGAGAGTGGGCGAGAACGTCCACTGCGGGCCGGCGAAAGCTGGTTCCTTGTG
GAGAAGCACTGGTATAAGCAGTGGGAGGCATACGTGCAGGGAGGGGACCAGGACTCCAGCACCTTCCCTGGCTGCATCAACAATGCCACACTCTTTCAAGATGAG
ATAAACTGGCGCCTCAAGGAGGGACTGGTGGAAGGCGAGGATTATGTGCTGCTCCCAGCAGCTGCTTGGCATTACCTGGTCAGCTGGTATGGTCTAGAGCATGGC
CAGCCACCCATTGAACGCAAGGTCATAGAGCTGCCCAACATCCAGAAGGTCGAAGTGTACCCAGTAGAACTGCTGCTTGTCCGGCACAATGATTTGGGCAAATCT
CACACTGTTCAGTTCAGCCATACCGATTCTATTGGCCTAGTATTGCGCACAGCTCGGGAGCGGTTTCTGGTGGAGCCCCAGGAAGACACTCGGCTTTGGGCCAAG
AACTCAGAAGGCTCTTTGGATAGGTTGTATGACACACACATCACGGTTCTCGATGCGGCCCTTGAGACTGGGCAGTTGATCATCATGGAGACCCGCAAGAAAGAT
GGCACTTGGCCCAGCGCACAGCTGCATGTCATGAACAACAACATGTCGGAAGAGGATGAGGACTTCAAGGGTCAGCCAGGCATCTGTGGCCTCACCAATCTGGGC
AACACGTGCTTCATGAACTCGGCCCTGCAGTGCCTCAGCAATGTGCCACAGCTCACCGAGTACTTCCTCAACAACTGCTACCTGGAGGAGCTCAACTTCCGCAAC
CCACTGGGCATGAAGGGTGAGATCGCAGAGGCCTATGCAGACCTGGTGAAGCAGGCGTGGTCTGGCCACCACCGCTCCATTGTGCCACATGTGTTCAAGAACAAG
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>USP11|8237|protein
MAVAPRLFGGLCFRFRDQNPEVAVEGRLPISHSCVGCRRERTAMATVAANPAAAAAAVAAAAAVTEDREPQHEELPGLDSQWRQIENGESGRERPLRAGESWFLV
EKHWYKQWEAYVQGGDQDSSTFPGCINNATLFQDEINWRLKEGLVEGEDYVLLPAAAWHYLVSWYGLEHGQPPIERKVIELPNIQKVEVYPVELLLVRHNDLGKS
HTVQFSHTDSIGLVLRTARERFLVEPQEDTRLWAKNSEGSLDRLYDTHITVLDAALETGQLIIMETRKKDGTWPSAQLHVMNNNMSEEDEDFKGQPGICGLTNLG
NTCFMNSALQCLSNVPQLTEYFLNNCYLEELNFRNPLGMKGEIAEAYADLVKQAWSGHHRSIVPHVFKNKVGHFASQFLGYQQHDSQELLSFLLDGLHEDLNRVK
KKEYVELCDAAGRPDQEVAQEAWQNHKRRNDSVIVDTFHGLFKSTLVCPDCGNVSVTFDPFCYLSVPLPISHKRVLEVFFIPMDPRRKPEQHRLVVPKKGKISDL
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top