AutismKB 2.0

Evidence Details for PPIL6


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Basic Information Top
Gene Symbol:PPIL6 ( MGC27054,MGC27056,MGC41939,RSPH12,bA425D10.6,dJ919F19.1 )
Gene Full Name: peptidylprolyl isomerase (cyclophilin)-like 6
Band: 6q21
Quick LinksEntrez ID:285755; OMIM: NA; Uniprot ID:PPIL6_HUMAN; ENSEMBL ID: ENSG00000185250; HGNC ID: 21557
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPIL6|285755|nucleotide
ATGGCAAGGCCGCAGCCGTGCGGGCCCCCGCACGCTAGGTGCGGCTCGCCGTCGCTGCCGGAGCGGCCGCTGCAGGTGAAGGTGGTGGGGCTCTTCAGCTGCCCC
AACTTTCAGATTGCGAAGAGCGCCGCTGAGAATCTGAAGAATAATCATCCATCCAAATTTGAAGATCCTATATTAGTTCCTCTTCAAGAATTTGCATGGCATCAA
TATCTACAGGAGAAAAAAAGGGAACTCAAAAATGAAACCTGGGAATATTCTTCCTCTGTGATTTCTTTTGTTAATGGTCAGTTTCTGGGTGATGCATTGGATCTG
CAGAAATGGGCCCACGAGGTGTGGGATATAGTTGACATTAAACCCTCTGCACTTTATGACGCACTCACTGAGGATTTTTCCGCTAAGTTCTTAAGAGACACCAAG
CATGATTTCGTGTTTTTGGACATTTGTATTGATTCTTCTCCAATTGGAAGATTGATTTTTGAGCTATACTGTGATGTGTGTCCCAAAACATGTAAAAATTTTCAG
GTCTTGTGCACAGGAAAAGCAGGGTTTTCTCAACGTGGCATAAGACTACATTACAAAAATTCCATTTTTCATCGAATAGTACAGAATGGCTGGATACAAGGAGGG
GATATAGTGTATGGAAAAGGAGATAATGGAGAGTCGATTTATGGTCCAACATTTGAAGAGCTTTATGGAAGCTTGAAAAGAAGTGTAAAGAGGCAGAAGGAAAGC
AGAGGGGTTGGAAAGATCGAGAAATACCGAGATGAAAACTTTTCAGTTCCTCATAATAAAAGAGGAGTACTTGGAATGGCCAACAAAGGCCGTCACAGCAACGGG
TCACAATTCTATATCACACTGCAAGCAACTCCTTATCTAGATAGAAAATTTGTGGCTTTTGGGCAACTGATTGAAGGAACAGAAGTGCTTAAACAACTAGAATTA
GTTCCAACACAGAATGAAAGACCAATACATATGTGTAGAATTACTGACAGTGGAGATCCTTATGCTTGA

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>PPIL6|285755|protein
MARPQPCGPPHARCGSPSLPERPLQVKVVGLFSCPNFQIAKSAAENLKNNHPSKFEDPILVPLQEFAWHQYLQEKKRELKNETWEYSSSVISFVNGQFLGDALDL
QKWAHEVWDIVDIKPSALYDALTEDFSAKFLRDTKHDFVFLDICIDSSPIGRLIFELYCDVCPKTCKNFQVLCTGKAGFSQRGIRLHYKNSIFHRIVQNGWIQGG
DIVYGKGDNGESIYGPTFEELYGSLKRSVKRQKESRGVGKIEKYRDENFSVPHNKRGVLGMANKGRHSNGSQFYITLQATPYLDRKFVAFGQLIEGTEVLKQLEL
VPTQNERPIHMCRITDSGDPYA

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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 (0) 0 (1) 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