AutismKB 2.0

Evidence Details for PPWD1


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Basic Information Top
Gene Symbol:PPWD1 ( KIAA0073 )
Gene Full Name: peptidylprolyl isomerase domain and WD repeat containing 1
Band: 5q12.3
Quick LinksEntrez ID:23398; OMIM: NA; Uniprot ID:PPWD1_HUMAN; ENSEMBL ID: ENSG00000113593; HGNC ID: 28954
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPWD1|23398|nucleotide
ATGGCGGCGGAAAGTGGTAGCGATTTTCAGCAGAGACGTAGAAGGCGCCGGGACCCGGAGGAACCGGAAAAAACAGAACTCAGCGAAAGAGAGCTGGCAGTAGCA
GTGGCGGTGTCCCAGGAGAACGATGAGGAGAACGAAGAGCGCTGGGTTGGACCTTTACCTGTGGAGGCAACACTGGCCAAGAAGAGGAAAGTCTTAGAGTTTGAA
AGAGTCTATCTTGATAATCTCCCCAGTGCATCCATGTATGAGCGCAGTTACATGCATAGAGATGTTATCACCCATGTGGTATGCACCAAAACAGATTTTATTATT
ACTGCCAGTCATGATGGACATGTCAAGTTCTGGAAAAAAATAGAAGAGGGAATTGAATTTGTTAAACATTTTCGTAGTCACCTGGGAGTTATTGAGAGTATTGCA
GTTAGCTCTGAGGGAGCATTGTTCTGTTCTGTGGGTGATGATAAAGCAATGAAGGTGTTTGATGTAGTGAACTTTGACATGATCAACATGCTGAAACTTGGCTAT
TTTCCTGGACAGTGTGAGTGGATCTATTGCCCAGGGGATGCAATTTCTTCAGTTGCTGCTTCCGAAAAGAGTACAGGAAAAATTTTCATTTATGATGGCCGAGGA
GATAACCAGCCACTTCATATTTTTGACAAACTCCATACATCACCTCTTACTCAGATACGGCTAAACCCAGTTTACAAAGCAGTAGTGTCTTCTGACAAATCTGGG
ATGATTGAATACTGGACTGGGCCTCCTCATGAATATAAATTCCCCAAAAATGTGAACTGGGAATATAAAACTGACACTGATTTATATGAATTTGCCAAGTGTAAG
GCTTATCCAACCAGCGTATGTTTTTCACCAGATGGGAAGAAAATAGCTACTATTGGTTCTGATAGAAAAGTTAGAATTTTCAGATTTGTAACTGGAAAACTCATG
AGAGTCTTTGATGAATCACTAAGCATGTTTACTGAACTGCAACAGATGAGGCAACAGTTACCAGACATGGAATTTGGCCGACGAATGGCTGTAGAACGTGAGTTG
GAGAAGGTTGATGCTGTAAGATTAATTAATATAGTTTTTGATGAAACTGGACACTTCGTGCTGTATGGAACAATGCTGGGCATTAAAGTTATAAATGTAGAGACA
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>PPWD1|23398|protein
MAAESGSDFQQRRRRRRDPEEPEKTELSERELAVAVAVSQENDEENEERWVGPLPVEATLAKKRKVLEFERVYLDNLPSASMYERSYMHRDVITHVVCTKTDFII
TASHDGHVKFWKKIEEGIEFVKHFRSHLGVIESIAVSSEGALFCSVGDDKAMKVFDVVNFDMINMLKLGYFPGQCEWIYCPGDAISSVAASEKSTGKIFIYDGRG
DNQPLHIFDKLHTSPLTQIRLNPVYKAVVSSDKSGMIEYWTGPPHEYKFPKNVNWEYKTDTDLYEFAKCKAYPTSVCFSPDGKKIATIGSDRKVRIFRFVTGKLM
RVFDESLSMFTELQQMRQQLPDMEFGRRMAVERELEKVDAVRLINIVFDETGHFVLYGTMLGIKVINVETNRCVRILGKQENIRVMQLALFQGIAKKHRAATTIE
MKASENPVLQNIQADPTIVCTSFKKNRFYMFTKREPEDTKSADSDRDVFNEKPSKEEVMAATQAEGPKRVSDSAIIHTSMGDIHTKLFPVECPKTVENFCVHSRN
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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