AutismKB 2.0

Evidence Details for PUS3


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Basic Information Top
Gene Symbol:PUS3 ( 2610020J05Rik,FLJ23638 )
Gene Full Name: pseudouridylate synthase 3
Band: 11q24.2
Quick LinksEntrez ID:83480; OMIM: NA; Uniprot ID:PUS3_HUMAN; ENSEMBL ID: ENSG00000110060; HGNC ID: 25461
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PUS3|83480|nucleotide
ATGGCTGATAATGACACAGACAGAAACCAGACTGAGAAGCTCCTAAAAAGAGTACGAGAACTGGAGCAAGAGGTGCAAAGACTTAAAAAGGAACAGGCCAAAAAT
AAGGAGGACTCAAACATTAGAGAAAATTCAGCAGGAGCTGGAAAAACTAAGCGTGCATTTGATTTCAGTGCTCATGGCCGAAGACACGTAGCCCTAAGAATAGCC
TATATGGGCTGGGGATACCAGGGCTTTGCTAGTCAGGAAAACACAAATAATACCATTGAAGAGAAACTGTTTGAAGCTCTAACCAAGACTCGACTAGTAGAAAGC
AGACAGACATCCAACTATCACCGATGTGGGAGAACAGATAAAGGAGTTAGTGCCTTTGGACAGGTGATCTCACTTGACCTTCGCTCTCAGTTTCCAAGGGGCAGG
GATTCCGAGGACTTTAATGTAAAAGAGGAGGCTAATGCTGCTGCTGAAGAGATCCGTTATACCCACATTCTCAATCGGGTACTCCCTCCAGACATCCGTATATTG
GCCTGGGCCCCTGTAGAACCAAGCTTCAGTGCTAGGTTCAGCTGCCTTGAGCGGACTTACCGCTATTTTTTCCCTCGTGCTGATTTAGATATTGTAACCATGGAT
TATGCAGCTCAGAAGTATGTTGGCACCCATGATTTCAGGAACTTGTGTAAAATGGATGTAGCCAACGGTGTGATTAATTTTCAGAGGACTATTCTATCTGCTCAA
GTACAGCTAGTGGGCCAGAGCCCAGGTGAGGGGAGATGGCAAGAACCTTTCCAGTTATGTCAGTTTGAAGTGACTGGCCAGGCATTCCTTTATCATCAAGTCCGA
TGTATGATGGCTATCCTCTTTCTGATTGGCCAAGGAATGGAGAAGCCAGAGATTATTGATGAGCTGCTGAATATAGAGAAAAATCCCCAAAAGCCTCAATATAGT
ATGGCTGTAGAATTTCCTCTAGTCTTATATGACTGTAAGTTTGAAAATGTCAAGTGGATCTATGACCAGGAGGCTCAGGAGTTCAATATTACCCACCTACAACAA
CTGTGGGCTAATCATGCTGTCAAAACTCACATGTTGTATAGTATGCTACAAGGACTGGACACTGTTCCAGTACCCTGTGGAATAGGACCAAAGATGGATGGAATG
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>PUS3|83480|protein
MADNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIRENSAGAGKTKRAFDFSAHGRRHVALRIAYMGWGYQGFASQENTNNTIEEKLFEALTKTRLVES
RQTSNYHRCGRTDKGVSAFGQVISLDLRSQFPRGRDSEDFNVKEEANAAAEEIRYTHILNRVLPPDIRILAWAPVEPSFSARFSCLERTYRYFFPRADLDIVTMD
YAAQKYVGTHDFRNLCKMDVANGVINFQRTILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFLIGQGMEKPEIIDELLNIEKNPQKPQYS
MAVEFPLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTHMLYSMLQGLDTVPVPCGIGPKMDGMTEWGNVKPSVIKQTSAFVEGVKMRTYKPLMDRPKC
QGLESRIQHFVRRGRIEHPHLFHEEETKAKRDCNDTLEEENTNLETPTKRVCVDTEIKSII
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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) 1 (1) 0 (0) 0 (1) 0 (0) 10 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top