AutismKB 2.0

Evidence Details for USP33


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Basic Information Top
Gene Symbol:USP33 ( KIAA1097,MGC16868,VDU1 )
Gene Full Name: ubiquitin specific peptidase 33
Band: 1p31.1
Quick LinksEntrez ID:23032; OMIM: NA; Uniprot ID:UBP33_HUMAN; ENSEMBL ID: ENSG00000077254; HGNC ID: 20059
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP33|23032|nucleotide
ATGACAGGATCAAATTCACACATAACGATATTAACCTTAAAGGTGTTACCTCATTTTGAAAGTCTTGGGAAACAGGAAAAAATTCCTAACAAAATGTCAGCTTTT
CGAAATCATTGTCCACATTTGGATTCAGTTGGTGAAATAACAAAAGAAGATTTGATACAAAAATCCCTTGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAAT
CTTTGGGCATGTCTGGAGAATAGATGTTCATATGTTGGCTGTGGTGAATCACAAGTAGATCACAGCACCATACATTCTCAGGAGACAAAGCATTATCTAACTGTG
AACCTTACCACTCTTCGAGTATGGTGTTATGCTTGCAGCAAAGAAGTATTTTTGGATAGGAAATTAGGAACTCAGCCTTCATTGCCTCATGTAAGACAACCTCAC
CAAATACAAGAAAACAGTGTCCAGGATTTTAAAATACCCAGTAATACAACATTAAAAACTCCTCTGGTTGCCGTATTTGATGATCTGGATATAGAAGCGGATGAA
GAAGATGAACTTAGGGCCAGAGGTCTTACAGGTTTGAAAAATATTGGAAATACTTGTTACATGAATGCAGCTTTGCAGGCTCTTTCTAATTGCCCACCTTTGACA
CAGTTTTTTCTTGATTGTGGAGGACTAGCTCGAACAGATAAGAAACCTGCCATTTGTAAAAGTTATCTCAAACTAATGACAGAGCTGTGGCATAAAAGCAGGCCA
GGATCTGTTGTGCCTACTACTCTGTTTCAAGGAATTAAAACTGTAAATCCAACATTTCGGGGGTATTCTCAGCAGGATGCTCAAGAATTCCTTCGATGTTTAATG
GATTTGCTTCATGAAGAATTGAAAGAGCAAGTCATGGAAGTAGAAGAAGATCCGCAAACCATAACCACTGAGGAGACAATGGAAGAAGACAAGAGCCAGTCGGAT
GTAGATTTTCAGTCTTGTGAATCTTGTAGCAACAGTGATAGAGCAGAAAATGAAAATGGCTCTAGATGCTTTTCTGAAGATAATAATGAAACAACAATGTTAATT
CAGGATGATGAAAACAATTCAGAAATGTCAAAGGATTGGCAAAAAGAGAAGATGTGCAATAAGATTAATAAAGTAAATTCTGAAGGCGAATTTGATAAAGATAGA
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>USP33|23032|protein
MTGSNSHITILTLKVLPHFESLGKQEKIPNKMSAFRNHCPHLDSVGEITKEDLIQKSLGTCQDCKVQGPNLWACLENRCSYVGCGESQVDHSTIHSQETKHYLTV
NLTTLRVWCYACSKEVFLDRKLGTQPSLPHVRQPHQIQENSVQDFKIPSNTTLKTPLVAVFDDLDIEADEEDELRARGLTGLKNIGNTCYMNAALQALSNCPPLT
QFFLDCGGLARTDKKPAICKSYLKLMTELWHKSRPGSVVPTTLFQGIKTVNPTFRGYSQQDAQEFLRCLMDLLHEELKEQVMEVEEDPQTITTEETMEEDKSQSD
VDFQSCESCSNSDRAENENGSRCFSEDNNETTMLIQDDENNSEMSKDWQKEKMCNKINKVNSEGEFDKDRDSISETVDLNNQETVKVQIHSRASEYITDVHSNDL
STPQILPSNEGVNPRLSASPPKSGNLWPGLAPPHKKAQSASPKRKKQHKKYRSVISDIFDGTIISSVQCLTCDRVSVTLETFQDLSLPIPGKEDLAKLHSSSHPT
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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 (0) 0 (1) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top