AutismKB 2.0

Evidence Details for USP9X


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Basic Information Top
Gene Symbol:USP9X ( DFFRX,FAF,FAM )
Gene Full Name: ubiquitin specific peptidase 9, X-linked
Band: Xp11.4
Quick LinksEntrez ID:8239; OMIM: 300072; Uniprot ID:USP9X_HUMAN; ENSEMBL ID: ENSG00000124486; HGNC ID: 12632
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP9X|8239|nucleotide
ATGACAGCCACGACTCGTGGCTCTCCGGTCGGAGGGAATGACAACCAGGGCCAGGCTCCTGATGGACAGTCTCAGCCCCCCCTCCAACAGAATCAGACTTCATCG
CCTGATTCTTCCAATGAAAATTCCCCGGCAACTCCCCCAGATGAGCAAGGTCAAGGTGATGCCCCACCACAGCTTGAAGATGAGGAACCTGCATTTCCACATACT
GACTTGGCCAAGTTGGATGACATGATCAACAGGCCTCGATGGGTGGTTCCAGTTTTGCCGAAAGGGGAATTAGAAGTGCTTTTAGAAGCTGCTATTGATCTTAGT
AAAAAGGGCCTTGATGTTAAAAGTGAAGCATGTCAGCGATTTTTCCGTGATGGGCTAACAATATCATTCACTAAAATTCTTACAGATGAAGCAGTGAGTGGCTGG
AAGTTTGAAATTCATAGGTGTATTATTAACAATACTCATCGTCTGGTGGAGCTATGTGTGGCCAAGTTGTCCCAAGACTGGTTTCCACTTTTAGAACTTCTTGCC
ATGGCCTTAAATCCTCATTGCAAATTCCATATCTACAATGGTACACGTCCATGTGAATCAGTTTCCTCAAGTGTTCAGTTGCCTGAAGATGAACTCTTTGCTCGT
TCTCCAGATCCTCGATCACCAAAGGGTTGGCTAGTGGATCTTCTCAACAAATTTGGCACTTTAAATGGGTTCCAGATTTTGCATGATCGTTTTATTAATGGATCA
GCATTAAACGTTCAAATAATTGCAGCCCTTATTAAACCATTTGGGCAATGCTATGAGTTTCTCACTCTTCATACAGTGAAAAAGTACTTTCTTCCAATAATAGAA
ATGGTTCCACAGTTTTTAGAAAACTTAACTGATGAAGAACTGAAAAAAGAAGCAAAGAATGAAGCCAAAAATGATGCTCTTTCAATGATTATTAAATCTTTGAAG
AATTTAGCTTCAAGGGTTCCAGGACAAGAAGAAACTGTTAAAAACTTAGAAATATTTAGGTTAAAAATGATACTTAGATTATTGCAAATTTCTTCTTTCAATGGA
AAGATGAATGCACTGAATGAAGTTAATAAGGTGATATCTAGTGTATCATACTATACTCATCGACATGGTAATCCTGAGGAGGAAGAGTGGCTCACAGCTGAACGA
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>USP9X|8239|protein
MTATTRGSPVGGNDNQGQAPDGQSQPPLQQNQTSSPDSSNENSPATPPDEQGQGDAPPQLEDEEPAFPHTDLAKLDDMINRPRWVVPVLPKGELEVLLEAAIDLS
KKGLDVKSEACQRFFRDGLTISFTKILTDEAVSGWKFEIHRCIINNTHRLVELCVAKLSQDWFPLLELLAMALNPHCKFHIYNGTRPCESVSSSVQLPEDELFAR
SPDPRSPKGWLVDLLNKFGTLNGFQILHDRFINGSALNVQIIAALIKPFGQCYEFLTLHTVKKYFLPIIEMVPQFLENLTDEELKKEAKNEAKNDALSMIIKSLK
NLASRVPGQEETVKNLEIFRLKMILRLLQISSFNGKMNALNEVNKVISSVSYYTHRHGNPEEEEWLTAERMAEWIQQNNILSIVLRDSLHQPQYVEKLEKILRFV
IKEKALTLQDLDNIWAAQAGKHEAIVKNVHDLLAKLAWDFSPEQLDHLFDCFKASWTNASKKQREKLLELIRRLAEDDKDGVMAHKVLNLLWNLAHSDDVPVDIM
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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) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (1) 0 (0) 12 (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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top