AutismKB 2.0

Evidence Details for PPFIA1


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Basic Information Top
Gene Symbol:PPFIA1 ( FLJ41337,FLJ42630,FLJ43474,LIP.1,LIP1,LIPRIN,MGC26800 )
Gene Full Name: protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
Band: 11q13.3
Quick LinksEntrez ID:8500; OMIM: 611054; Uniprot ID:LIPA1_HUMAN; ENSEMBL ID: ENSG00000131626; HGNC ID: 9245
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPFIA1|8500|nucleotide
ATGATGTGCGAGGTGATGCCGACCATCAGCGAAGCAGAAGGCCCCCCTGGAGGAGGTGGAGGCCATGGTTCCGGCTCCCCTTCACAGCCAGATGCAGATTCACAT
TTTGAACAGTTGATGGTCTCCATGCTAGAAGAAAGGGACCGCCTTCTTGATACACTGAGAGAGACTCAAGAAACGCTGGCCTTAACCCAGGGGAAGTTACACGAG
GTTGGTCATGAAAGAGATTCCTTGCAGAGACAGCTCAACACGGCACTTCCACAGGAGTTCGCAGCACTTACTAAAGAACTCAATGTATGCAGGGAACAGCTCCTT
GAAAGGGAAGAAGAAATTGCTGAACTGAAAGCAGAAAGGAATAACACCAGGCTGCTGTTAGAGCATTTGGAATGCCTTGTCTCCAGGCATGAGCGGTCTCTTAGG
ATGACCGTGGTGAAGAGACAAGCGCAGTCTCCAGCAGGCGTGTCCAGCGAAGTGGAAGTGCTGAAAGCACTGAAGTCCTTATTTGAACACCACAAAGCTCTGGAT
GAAAAGGTGAGAGAGCGATTACGAGTAGCACTTGAAAGATGTAGTTTGTTAGAAGAGGAATTAGGTGCCACACACAAAGAGCTAATGATTCTTAAAGAACAGAAT
AATCAGAAAAAAACTCTAACAGATGGAGTGCTGGACATAAACCATGAACAAGAAAATACACCAAGCACGAGTGGAAAGAGATCTTCTGATGGTTCTTTAAGCCAC
GAGGAAGACCTTGCTAAAGTAATTGAGCTCCAAGAAATCATAAGTAAGCAGTCAAGGGAACAGAGCCAAATGAAAGAACGCCTGGCTTCCCTTTCCAGTCATGTG
ACAGAACTGGAAGAGGATCTGGACACGGCTAGAAAAGATCTCATCAAATCTGAAGAAATGAACACAAAATTGCAACGAGATGTCCGTGAAGCCATGGCCCAAAAG
GAAGATATGGAAGAGAGAATCACTACTCTTGAAAAACGCTACCTCGCTGCACAGCGTGAAGCCACATCTGTGCATGACCTCAATGATAAACTTGAAAATGAAATT
GCAAATAAAGATTCTATGCATCGACAGACTGAAGATAAAAACCGCCAGTTACAGGAGCGCTTGGAATTGGCAGAGCAAAAGCTGCAACAGACACTGAGGAAGGCA
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>PPFIA1|8500|protein
MMCEVMPTISEAEGPPGGGGGHGSGSPSQPDADSHFEQLMVSMLEERDRLLDTLRETQETLALTQGKLHEVGHERDSLQRQLNTALPQEFAALTKELNVCREQLL
EREEEIAELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPAGVSSEVEVLKALKSLFEHHKALDEKVRERLRVALERCSLLEEELGATHKELMILKEQN
NQKKTLTDGVLDINHEQENTPSTSGKRSSDGSLSHEEDLAKVIELQEIISKQSREQSQMKERLASLSSHVTELEEDLDTARKDLIKSEEMNTKLQRDVREAMAQK
EDMEERITTLEKRYLAAQREATSVHDLNDKLENEIANKDSMHRQTEDKNRQLQERLELAEQKLQQTLRKAETLPEVEAELAQRVAALSKAEERHGNIEERLRQME
AQLEEKNQELQRARQREKMNEEHNKRLSDTVDKLLSESNERLQLHLKERMAALEDKNSLLREVESAKKQLEETQHDKDQLVLNIEALRAELDHMRLRGASLHHGR
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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 (1) 0 (0) 0 (0) 0 (0) 1 (2) 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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top