AutismKB 2.0

Evidence Details for PPFIBP2


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Basic Information Top
Gene Symbol:PPFIBP2 ( Cclp1,DKFZp781K06126,MGC42541 )
Gene Full Name: PTPRF interacting protein, binding protein 2 (liprin beta 2)
Band: 11p15.4
Quick LinksEntrez ID:8495; OMIM: 603142; Uniprot ID:LIPB2_HUMAN; ENSEMBL ID: ENSG00000166387; HGNC ID: 9250
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPFIBP2|8495|nucleotide
ATGGCTTCTGATGCTAGTCATGCGCTGGAAGCTGCCCTGGAGCAAATGGACGGGATCATTGCAGGCACTAAAACAGGTGCAGATCTTAGTGATGGTACTTGTGAG
CCTGGACTGGCTTCCCCGGCCTCCTACATGAACCCCTTCCCGGTGCTCCATCTCATCGAGGACTTGAGGCTGGCCTTGGAGATGCTGGAGCTTCCTCAGGAGAGA
GCAGCCCTCCTGAGCCAGATCCCTGGCCCAACAGCTGCCTACATAAAGGAATGGTTTGAAGAGAGCTTGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAA
ACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGAGTGTCCTCACAGACCAAGTAGAAGCCCAGGGAGAAAAGATTCGA
GACCTGGAAGTGTGTCTGGAAGGACACCAGGTGAAACTCAATGCTGCTGAAGAGATGCTTCAACAGGAGCTGCTAAGCCGCACATCTCTTGAGACCCAGAAGCTC
GATCTGATGACTGAAGTGTCTGAGCTGAAGCTCAAGCTGGTTGGCATGGAGAAGGAGCAGAGAGAGCAGGAGGAGAAGCAGAGAAAAGCAGAGGAGTTACTGCAA
GAGCTCAGGCACCTCAAAATCAAAGTGGAAGAGTTGGAAAATGAAAGGAATCAGTATGAATGGAAGCTAAAGGCCACTAAGGCTGAAGTCGCCCAGCTGCAAGAA
CAGGTGGCCCTGAAAGATGCAGAAATTGAGCGTCTGCACAGCCAGCTCTCCCGGACAGCAGCTCTCCACAGTGAGAGTCACACAGAGAGAGACCAAGAAATTCAA
CGTCTGAAAATGGGGATGGAAACTTTGCTGCTTGCCAATGAAGATAAGGACCGTCGGATAGAGGAGCTTACGGGGCTGTTAAACCAGTACCGGAAGGTAAAGGAG
ATTGTGATGGTCACTCAAGGGCCTTCGGAGAGAACTCTCTCAATCAATGAAGAAGAACCGGAGGGAGGTTTCAGCAAGTGGAACGCTACAAATAAGGACCCTGAA
GAATTATTTAAACAAGAGATGCCTCCAAGATGTAGCTCTCCTACAGTGGGGCCACCTCCATTGCCACAGAAATCACTGGAAACCAGGGCTCAGAAAAAGCTCTCT
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>PPFIBP2|8495|protein
MASDASHALEAALEQMDGIIAGTKTGADLSDGTCEPGLASPASYMNPFPVLHLIEDLRLALEMLELPQERAALLSQIPGPTAAYIKEWFEESLSQVNHHSAASNE
TYQERLARLEGDKESLILQVSVLTDQVEAQGEKIRDLEVCLEGHQVKLNAAEEMLQQELLSRTSLETQKLDLMTEVSELKLKLVGMEKEQREQEEKQRKAEELLQ
ELRHLKIKVEELENERNQYEWKLKATKAEVAQLQEQVALKDAEIERLHSQLSRTAALHSESHTERDQEIQRLKMGMETLLLANEDKDRRIEELTGLLNQYRKVKE
IVMVTQGPSERTLSINEEEPEGGFSKWNATNKDPEELFKQEMPPRCSSPTVGPPPLPQKSLETRAQKKLSCSLEDLRSESVDKCMDGNQPFPVLEPKDSPFLAEH
KYPTLPGKLSGATPNGEAAKSPPTICQPDATGSSLLRLRDTESGWDDTAVVNDLSSTSSGTESGPQSPLTPDGKRNPKGIKKFWGKIRRTQSGNFYTDTLGMAEF
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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 (1) 0 (0) 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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top