AutismKB 2.0

Evidence Details for USP8


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Basic Information Top
Gene Symbol:USP8 ( FLJ34456,HumORF8,KIAA0055,MGC129718,UBPY )
Gene Full Name: ubiquitin specific peptidase 8
Band: 15q21.2
Quick LinksEntrez ID:9101; OMIM: 603158; Uniprot ID:UBP8_HUMAN; ENSEMBL ID: ENSG00000138592; HGNC ID: 12631
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP8|9101|nucleotide
ATGCCTGCTGTGGCTTCAGTTCCTAAAGAACTCTACCTCAGTTCTTCACTAAAAGACCTTAATAAGAAGACAGAAGTTAAACCAGAGAAAATAAGCACTAAGAGT
TATGTGCACAGTGCCCTGAAGATCTTTAAGACAGCAGAAGAATGCAGATTAGATCGTGATGAGGAAAGGGCCTATGTACTATATATGAAATACGTGACTGTTTAT
AATCTTATCAAAAAAAGACCTGATTTCAAGCAACAGCAGGATTATTTCCATTCAATACTTGGACCTGGAAACATCAAAAAAGCTGTCGAAGAAGCTGAAAGACTC
TCTGAAAGCCTTAAATTAAGATATGAAGAAGCTGAAGTCCGGAAAAAACTTGAGGAAAAAGACAGGCAGGAGGAAGCACAGCGGCTACAACAAAAAAGGCAGGAA
ACAGGAAGAGAGGATGGTGGCACATTGGCTAAAGGCTCTTTGGAGAATGTTTTGGATTCCAAAGACAAAACCCAAAAGAGCAATGGTGAAAAGAATGAAAAATGT
GAGACCAAAGAGAAAGGAGCAATCACAGCAAAGGAACTATACACAATGATGACGGATAAAAACATCAGCTTGATTATAATGGATGCTCGAAGAATGCAGGATTAT
CAGGATTCCTGTATTTTACATTCTCTCAGTGTTCCTGAAGAAGCCATCAGTCCAGGAGTCACTGCTAGTTGGATTGAAGCACACCTGCCAGATGATTCTAAAGAC
ACATGGAAGAAGAGGGGGAATGTGGAGTATGTGGTACTTCTTGACTGGTTTAGTTCTGCCAAAGATTTACAGATTGGAACAACTCTCCGGAGTCTGAAAGATGCA
CTTTTCAAGTGGGAAAGTAAAACTGTCCTGCGCAATGAGCCTTTGGTTTTAGAGGGAGGCTATGAAAACTGGCTCCTTTGTTATCCCCAGTATACAACAAATGCT
AAGGTCACTCCACCCCCACGACGCCAGAATGAAGAGGTGTCTATCTCATTGGATTTTACTTATCCCTCATTGGAAGAATCAATTCCTTCTAAACCTGCTGCCCAG
ACGCCACCTGCATCTATAGAAGTAGATGAAAATATAGAATTGATAAGTGGTCAAAATGAGAGAATGGGACCACTGAATATATCAACTCCAGTTGAACCAGTTGCT
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>USP8|9101|protein
MPAVASVPKELYLSSSLKDLNKKTEVKPEKISTKSYVHSALKIFKTAEECRLDRDEERAYVLYMKYVTVYNLIKKRPDFKQQQDYFHSILGPGNIKKAVEEAERL
SESLKLRYEEAEVRKKLEEKDRQEEAQRLQQKRQETGREDGGTLAKGSLENVLDSKDKTQKSNGEKNEKCETKEKGAITAKELYTMMTDKNISLIIMDARRMQDY
QDSCILHSLSVPEEAISPGVTASWIEAHLPDDSKDTWKKRGNVEYVVLLDWFSSAKDLQIGTTLRSLKDALFKWESKTVLRNEPLVLEGGYENWLLCYPQYTTNA
KVTPPPRRQNEEVSISLDFTYPSLEESIPSKPAAQTPPASIEVDENIELISGQNERMGPLNISTPVEPVAASKSDVSPIIQPVPSIKNVPQIDRTKKPAVKLPEE
HRIKSESTNHEQQSPQSGKVIPDRSTKPVVFSPTLMLTDEEKARIHAETALLMEKNKQEKELRERQQEEQKEKLRKEEQEQKAKKKQEAEENEITEKQQKAKEEM
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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 (0) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top