AutismKB 2.0

Evidence Details for PI16


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Basic Information Top
Gene Symbol:PI16 ( CRISP9,DKFZp586B1817,MGC45378,MSMBBP,PSPBP )
Gene Full Name: peptidase inhibitor 16
Band: 6p21.2
Quick LinksEntrez ID:221476; OMIM: NA; Uniprot ID:PI16_HUMAN; ENSEMBL ID: ENSG00000164530; HGNC ID: 21245
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PI16|221476|nucleotide
ATGCACGGCTCCTGCAGTTTCCTGATGCTTCTGCTGCCGCTACTGCTACTGCTGGTGGCCACCACAGGCCCCGTTGGAGCCCTCACAGATGAGGAGAAACGTTTG
ATGGTGGAGCTGCACAACCTCTACCGGGCCCAGGTATCCCCGACGGCCTCAGACATGCTGCACATGAGATGGGACGAGGAGCTGGCCGCCTTCGCCAAGGCCTAC
GCACGGCAGTGCGTGTGGGGCCACAACAAGGAGCGCGGGCGCCGCGGCGAGAATCTGTTCGCCATCACAGACGAGGGCATGGACGTGCCGCTGGCCATGGAGGAG
TGGCACCACGAGCGTGAGCACTACAACCTCAGCGCCGCCACCTGCAGCCCAGGCCAGATGTGCGGCCACTACACGCAGGTGGTATGGGCCAAGACAGAGAGGATC
GGCTGTGGTTCCCACTTCTGTGAGAAGCTCCAGGGTGTTGAGGAGACCAACATCGAATTACTGGTGTGCAACTATGAGCCTCCGGGGAACGTGAAGGGGAAACGG
CCCTACCAGGAGGGGACTCCGTGCTCCCAATGTCCCTCTGGCTACCACTGCAAGAACTCCCTCTGTGAACCCATCGGAAGCCCGGAAGATGCTCAGGATTTGCCT
TACCTGGTAACTGAGGCCCCATCCTTCCGGGCGACTGAAGCATCAGACTCTAGGAAAATGGGTACTCCTTCTTCCCTAGCAACGGGGATTCCGGCTTTCTTGGTA
ACAGAGGTCTCAGGCTCCCTGGCAACCAAGGCTCTGCCTGCTGTGGAAACCCAGGCCCCAACTTCCTTAGCAACGAAAGACCCGCCCTCCATGGCAACAGAGGCT
CCACCTTGCGTAACAACTGAGGTCCCTTCCATTTTGGCAGCTCACAGCCTGCCCTCCTTGGATGAGGAGCCAGTTACCTTCCCCAAATCGACCCATGTTCCTATC
CCAAAATCAGCAGACAAAGTGACAGACAAAACAAAAGTGCCCTCTAGGAGCCCAGAGAACTCTCTGGACCCCAAGATGTCCCTGACAGGGGCAAGGGAACTCCTA
CCCCATGCCCAGGAGGAGGCTGAGGCTGAGGCTGAGTTGCCTCCTTCCAGTGAGGTCTTGGCCTCAGTTTTTCCAGCCCAGGACAAGCCAGGTGAGCTGCAGGCC
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>PI16|221476|protein
MHGSCSFLMLLLPLLLLLVATTGPVGALTDEEKRLMVELHNLYRAQVSPTASDMLHMRWDEELAAFAKAYARQCVWGHNKERGRRGENLFAITDEGMDVPLAMEE
WHHEREHYNLSAATCSPGQMCGHYTQVVWAKTERIGCGSHFCEKLQGVEETNIELLVCNYEPPGNVKGKRPYQEGTPCSQCPSGYHCKNSLCEPIGSPEDAQDLP
YLVTEAPSFRATEASDSRKMGTPSSLATGIPAFLVTEVSGSLATKALPAVETQAPTSLATKDPPSMATEAPPCVTTEVPSILAAHSLPSLDEEPVTFPKSTHVPI
PKSADKVTDKTKVPSRSPENSLDPKMSLTGARELLPHAQEEAEAEAELPPSSEVLASVFPAQDKPGELQATLDHTGHTSSKSLPNFPNTSATANATGGRALALQS
SLPGAEGPDKPSVVSGLNSGPGHVWGPLLGLLLLPPLVLAGIF
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top