AutismKB 2.0

Evidence Details for USP54


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Basic Information Top
Gene Symbol:USP54 ( C10orf29,FLJ37318,bA137L10.3,bA137L10.4 )
Gene Full Name: ubiquitin specific peptidase 54
Band: 10q22.2
Quick LinksEntrez ID:159195; OMIM: NA; Uniprot ID:UBP54_HUMAN; ENSEMBL ID: ENSG00000166348; HGNC ID: 23513
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP54|159195|nucleotide
ATGTCTTGGAAGAGAAATTATTTTTCAGGGGGTCGTGGTAGTGTACAAGGGATGTTTGCACCTCGAAGCTCAACCTCCATAGCCCCCAGCAAAGGCCTCAGCAAT
GAGCCAGGGCAAAACAGCTGCTTCCTCAACAGTGCCCTGCAGGTTTTGTGGCACTTGGATATCTTCCGACGTAGCTTTAGGCAGCTTACAACTCACAAGTGCATG
GGAGATTCCTGCATCTTTTGCGCTCTCAAGGGAATCTTTAACCAGTTTCAGTGTAGTAGTGAAAAAGTGCTTCCATCTGACACTCTCCGCAGTGCTCTGGCAAAG
ACTTTCCAGGATGAACAACGTTTCCAGCTGGGAATTATGGATGATGCTGCAGAGTGCTTTGAAAACCTCCTGATGAGAATTCACTTCCACATTGCTGATGAAACC
AAAGAGGATATATGTACTGCCCAACACTGCATTTCCCATCAGAAATTTGCAATGACATTGTTTGAGCAGTGTGTATGTACTAGCTGTGGTGCCACTTCTGATCCG
CTGCCTTTCATCCAGATGGTACATTATATCTCCACCACTTCCCTTTGCAATCAGGCTATTTGTATGCTGGAAAGACGAGAGAAACCTTCACCAAGCATGTTTGGT
GAGCTGCTGCAGAATGCCAGCACCATGGGGGATCTGCGGAACTGTCCAAGCAACTGTGGAGAGAGGATCAGGATTCGCCGTGTGTTGATGAATGCTCCACAGATT
ATCACGATTGGGCTGGTATGGGACTCAGACCACTCAGACTTAGCAGAAGATGTTATCCACAGCCTGGGAACCTGCCTTAAGCTGGGTGATCTGTTTTTCAGAGTG
ACGGATGACCGGGCCAAGCAATCTGAACTGTACTTAGTTGGAATGATCTGTTACTATGGCAAACATTATTCTACATTCTTTTTTCAAACAAAGATTCGCAAATGG
ATGTATTTTGATGATGCTCATGTCAAGGAGATTGGGCCCAAATGGAAGGATGTGGTGACCAAATGCATCAAGGGGCATTATCAGCCCCTGCTGCTGCTTTATGCA
GATCCCCAGGGTACCCCAGTTTCCACCCAGGACCTGCCTCCCCAAGCTGAGTTCCAGTCATACAGCAGGACATGCTACGACAGTGAAGATTCAGGGAGGGAGCCC
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>USP54|159195|protein
MSWKRNYFSGGRGSVQGMFAPRSSTSIAPSKGLSNEPGQNSCFLNSALQVLWHLDIFRRSFRQLTTHKCMGDSCIFCALKGIFNQFQCSSEKVLPSDTLRSALAK
TFQDEQRFQLGIMDDAAECFENLLMRIHFHIADETKEDICTAQHCISHQKFAMTLFEQCVCTSCGATSDPLPFIQMVHYISTTSLCNQAICMLERREKPSPSMFG
ELLQNASTMGDLRNCPSNCGERIRIRRVLMNAPQIITIGLVWDSDHSDLAEDVIHSLGTCLKLGDLFFRVTDDRAKQSELYLVGMICYYGKHYSTFFFQTKIRKW
MYFDDAHVKEIGPKWKDVVTKCIKGHYQPLLLLYADPQGTPVSTQDLPPQAEFQSYSRTCYDSEDSGREPSISSDTRTDSSTESYPYKHSHHESVVSHFSSDSQG
TVIYNVENDSMSQSSRDTGHLTDSECNQKHTSKKGSLIERKRSSGRVRRKGDEPQASGYHSEGETLKEKQAPRNASKPSSSTNRLRDFKETVSNMIHNRPSLASQ
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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 (2) 0 (0) 0 (0) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top