AutismKB 2.0

Evidence Details for PIF1


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Basic Information Top
Gene Symbol:PIF1 ( C15orf20,PIF )
Gene Full Name: PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)
Band: 15q22.31
Quick LinksEntrez ID:80119; OMIM: 610953; Uniprot ID:PIF1_HUMAN; ENSEMBL ID: ENSG00000140451; HGNC ID: 26220
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PIF1|80119|nucleotide
ATGCTCTCGGGCATAGAGGCGGCGGCAGGGGAATATGAGGACTCGGAGCTGCGGTGCCGCGTGGCTGTGGAGGAGCTGAGCCCGGGCGGGCAGCCGCGAAGGCGC
CAGGCCCTGCGCACCGCGGAGCTGAGCCTGGGTCGCAACGAGCGCCGCGAGTTGATGCTGCGGCTGCAAGCGCCAGGGCCCGCGGGGCGGCCGCGCTGCTTTCCT
CTGCGCGCCGCGCGCCTCTTCACGCGTTTCGCCGAGGCCGGGCGCAGCACCCTGCGGCTCCCCGCCCACGACACCCCCGGGGCCGGCGCAGTGCAGCTGCTGCTC
TCGGACTGCCCCCCAGACCGCCTGCGCCGCTTCCTGCGCACATTGCGCCTCAAGCTGGCTGCGGCCCCGGGTCCCGGGCCGGCCTCCGCCCGAGCGCAGCTGCTG
GGCCCGCGGCCCCGCGACTTCGTCACCATCAGCCCTGTGCAGCCCGAGGAGCGGCGGCTCAGGGCGGCCACCCGGGTTCCGGACACTACGCTGGTGAAGCGGCCT
GTGGAGCCCCAGGCTGGGGCCGAGCCTAGCACAGAAGCCCCAAGGTGGCCCCTGCCTGTGAAGAGGCTGAGCTTGCCCTCCACCAAGCCACAGCTTTCTGAGGAA
CAGGCTGCTGTGCTGAGGGCCGTCCTGAAAGGCCAGAGCATCTTCTTCACTGGGAGTGCAGGAACAGGGAAGTCATATCTGCTAAAGCGAATCCTGGGCTCACTG
CCCCCCACAGGCACTGTGGCCACTGCCAGCACTGGGGTGGCAGCCTGCCACATCGGGGGCACCACCCTCCATGCCTTTGCAGGCATCGGCTCAGGCCAGGCTCCT
CTAGCCCAGTGTGTGGCCCTGGCCCAAAGGCCAGGCGTGCGGCAGGGCTGGCTGAACTGCCAGCGGTTGGTCATTGACGAGATCTCAATGGTGGAGGCAGACCTG
TTTGACAAACTGGAGGCCGTGGCCAGAGCTGTCCGGCAGCAGAACAAGCCATTCGGAGGGATCCAGCTCATCATCTGTGGGGACTTTCTGCAGCTGCCACCTGTG
ACCAAGGGCTCCCAGCCCCCACGGTTCTGCTTCCAGTCCAAGAGCTGGAAGAGGTGTGTGCCAGTGACCCTGGAGCTGACCAAGGTGTGGAGGCAGGCAGACCAG
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>PIF1|80119|protein
MLSGIEAAAGEYEDSELRCRVAVEELSPGGQPRRRQALRTAELSLGRNERRELMLRLQAPGPAGRPRCFPLRAARLFTRFAEAGRSTLRLPAHDTPGAGAVQLLL
SDCPPDRLRRFLRTLRLKLAAAPGPGPASARAQLLGPRPRDFVTISPVQPEERRLRAATRVPDTTLVKRPVEPQAGAEPSTEAPRWPLPVKRLSLPSTKPQLSEE
QAAVLRAVLKGQSIFFTGSAGTGKSYLLKRILGSLPPTGTVATASTGVAACHIGGTTLHAFAGIGSGQAPLAQCVALAQRPGVRQGWLNCQRLVIDEISMVEADL
FDKLEAVARAVRQQNKPFGGIQLIICGDFLQLPPVTKGSQPPRFCFQSKSWKRCVPVTLELTKVWRQADQTFISLLQAVRLGRCSDEVTRQLQATASHKVGRDGI
VATRLCTHQDDVALTNERRLQELPGKVHRFEAMDSNPELASTLDAQCPVSQLLQLKLGAQVMLVKNLSVSRGLVNGARGVVVGFEAEGRGLPQVRFLCGVTEVIH
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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top