AutismKB 2.0

Evidence Details for PPFIA2


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Basic Information Top
Gene Symbol:PPFIA2 ( FLJ41378,MGC132572 )
Gene Full Name: protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
Band: 12q21.31
Quick LinksEntrez ID:8499; OMIM: 603143; Uniprot ID:LIPA2_HUMAN; ENSEMBL ID: ENSG00000139220; HGNC ID: 9246
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPFIA2|8499|nucleotide
ATGATGTGTGAAGTGATGCCCACGATTAATGAGGACACCCCAATGAGCCAAAGGGGGTCCCAAAGCAGTGGCTCGGACTCAGACTCCCATTTTGAGCAGCTGATG
GTGAATATGCTAGATGAAAGGGATCGTCTTCTAGACACCCTTCGGGAGACCCAGGAAAGCCTCTCACTTGCCCAGCAAAGACTTCAGGATGTCATCTATGACCGA
GACTCACTCCAGAGACAGCTCAATTCAGCCCTGCCACAGGATATCGAATCCCTAACAGGAGGGCTGGCTGGTTCTAAGGGGGCTGATCCACCGGAATTTGCTGCA
CTGACAAAAGAATTAAATGCCTGCAGGGAACAACTTCTAGAAAAGGAAGAAGAAATCTCTGAACTTAAAGCTGAAAGAAACAACACAAGACTATTACTGGAGCAT
TTGGAGTGCCTTGTGTCACGACATGAAAGATCACTAAGAATGACGGTGGTAAAACGGCAAGCCCAGTCTCCCTCAGGAGTATCCAGTGAAGTTGAAGTTCTCAAG
GCACTGAAATCTTTGTTTGAGCACCACAAGGCCTTGGATGAAAAGGTAAGGGAGCGACTGAGGGTTTCTTTAGAAAGAGTCTCTGCACTGGAAGAAGAACTAGCT
GCTGCTAATCAGGAGATTGTTGCCTTGCGTGAACAAAATGTTCATATACAAAGAAAAATGGCATCAAGCGAGGGATCCACAGAGTCAGAACATCTTGAAGGGATG
GAACCTGGACAGAAAGTCCATGAGAAGCGTTTGTCCAATGGTTCTATAGACTCAACCGATGAAACTAGTCAAATAGTTGAACTACAAGAATTGCTTGAAAAGCAA
AACTATGAAATGGCCCAGATGAAAGAACGTTTAGCAGCCCTTTCTTCCCGAGTGGGAGAGGTGGAACAGGAAGCAGAGACAGCAAGAAAGGATCTCATTAAAACA
GAAGAAATGAACACCAAGTATCAAAGGGACATTAGGGAGGCCATGGCACAAAAGGAAGATATGGAAGAAAGAATTACAACCCTTGAAAAGCGTTACCTCAGTGCT
CAGAGAGAATCTACCTCCATACATGACATGAATGATAAACTAGAAAATGAGTTAGCAAATAAAGAAGCTATCCTGCGGCAGATGGAAGAGAAAAACAGACAGTTA
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>PPFIA2|8499|protein
MMCEVMPTINEDTPMSQRGSQSSGSDSDSHFEQLMVNMLDERDRLLDTLRETQESLSLAQQRLQDVIYDRDSLQRQLNSALPQDIESLTGGLAGSKGADPPEFAA
LTKELNACREQLLEKEEEISELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRVSLERVSALEEELA
AANQEIVALREQNVHIQRKMASSEGSTESEHLEGMEPGQKVHEKRLSNGSIDSTDETSQIVELQELLEKQNYEMAQMKERLAALSSRVGEVEQEAETARKDLIKT
EEMNTKYQRDIREAMAQKEDMEERITTLEKRYLSAQRESTSIHDMNDKLENELANKEAILRQMEEKNRQLQERLELAEQKLQQTMRKAETLPEVEAELAQRIAAL
TKAEERHGNIEERMRHLEGQLEEKNQELQRARQREKMNEEHNKRLSDTVDRLLTESNERLQLHLKERMAALEEKNVLIQESETFRKNLEESLHDKERLAEEIEKL
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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 (0) 0 (1) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top