AutismKB 2.0

Evidence Details for PWP1


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Basic Information Top
Gene Symbol:PWP1 ( IEF-SSP-9502 )
Gene Full Name: PWP1 homolog (S. cerevisiae)
Band: 12q23.3
Quick LinksEntrez ID:11137; OMIM: NA; Uniprot ID:PWP1_HUMAN; ENSEMBL ID: ENSG00000136045; HGNC ID: 17015
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PWP1|11137|nucleotide
ATGAACCGCAGCCGCCAGGTGACGTGCGTGGCCTGGGTCCGCTGCGGCGTGGCCAAAGAGACACCAGACAAGGTAGAGCTGAGTAAAGAAGAAGTAAAACGCCTC
ATTGCTGAGGCAAAGGAGAAATTGCAAGAAGAAGGTGGTGGCAGTGATGAAGAGGAGACAGGCAGTCCTTCAGAAGATGGCATGCAGAGTGCACGCACCCAGGCA
CGCCCAAGAGAGCCCCTGGAGGATGGTGACCCAGAGGATGACAGGACGCTTGATGATGATGAGCTGGCTGAGTACGACTTAGATAAATATGATGAGGAAGGTGAC
CCAGATGCTGAGACTCTTGGTGAATCTCTCTTGGGTCTTACGGTCTACGGGAGTAATGATCAAGATCCTTACGTTACTCTGAAAGATACAGAACAATATGAACGT
GAAGATTTCTTGATTAAGCCCAGTGATAATCTTATAGTTTGTGGCCGAGCTGAACAGGACCAGTGCAATTTAGAGGTGCATGTTTATAATCAAGAAGAAGACTCT
TTTTATGTACACCATGATATACTCTTGTCTGCATATCCTCTGAGTGTGGAATGGCTGAATTTTGATCCTAGCCCAGATGATTCTACTGGAAATTACATTGCTGTA
GGAAACATGACCCCTGTTATTGAAGTGTGGGACCTTGATATAGTGGACTCTTTAGAGCCAGTCTTCACACTCGGAAGTAAACTTTCAAAAAAGAAGAAAAAGAAA
GGAAAGAAGAGTTCCTCAGCAGAAGGGCATACCGATGCTGTCCTTGACCTTTCATGGAATAAGCTAATCAGAAATGTTTTAGCAAGTGCATCAGCTGACAACACT
GTAATTCTGTGGGATATGTCCTTGGGGAAACCAGCAGCTAGCCTCGCTGTACACACAGACAAGGTCCAAACACTGCAGTTTCATCCATTTGAAGCACAGACTCTG
ATTTCTGGCTCATATGATAAGTCAGTGGCTTTGTATGACTGCCGAAGTCCAGATGAAAGCCATCGAATGTGGCGATTCAGTGGGCAGATAGAGAGAGTGACTTGG
AATCACTTTTCACCTTGTCATTTCTTGGCCAGTACAGATGACGGCTTTGTATATAATTTGGATGCACGTTCAGATAAGCCAATTTTTACACTTAATGCACACAAT
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>PWP1|11137|protein
MNRSRQVTCVAWVRCGVAKETPDKVELSKEEVKRLIAEAKEKLQEEGGGSDEEETGSPSEDGMQSARTQARPREPLEDGDPEDDRTLDDDELAEYDLDKYDEEGD
PDAETLGESLLGLTVYGSNDQDPYVTLKDTEQYEREDFLIKPSDNLIVCGRAEQDQCNLEVHVYNQEEDSFYVHHDILLSAYPLSVEWLNFDPSPDDSTGNYIAV
GNMTPVIEVWDLDIVDSLEPVFTLGSKLSKKKKKKGKKSSSAEGHTDAVLDLSWNKLIRNVLASASADNTVILWDMSLGKPAASLAVHTDKVQTLQFHPFEAQTL
ISGSYDKSVALYDCRSPDESHRMWRFSGQIERVTWNHFSPCHFLASTDDGFVYNLDARSDKPIFTLNAHNDEISGLDLSSQIKGCLVTASADKYVKIWDILGDRP
SLVHSRDMKMGVLFCSSCCPDLPFIYAFGGQKEGLRVWDISTVSSVNEAFGRRERLVLGSARNSSISGPFGSRSSDTPMES
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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top