AutismKB 2.0

Evidence Details for PRSS8


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Basic Information Top
Gene Symbol:PRSS8 ( CAP1,PROSTASIN )
Gene Full Name: protease, serine, 8
Band: 16p11.2
Quick LinksEntrez ID:5652; OMIM: 600823; Uniprot ID:PRSS8_HUMAN; ENSEMBL ID: ENSG00000052344; HGNC ID: 9491
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRSS8|5652|nucleotide
ATGGCCCAGAAGGGGGTCCTGGGGCCTGGGCAGCTGGGGGCTGTGGCCATTCTGCTCTATCTTGGATTACTCCGGTCGGGGACAGGAGCGGAAGGGGCAGAAGCT
CCCTGCGGTGTGGCCCCCCAAGCACGCATCACAGGTGGCAGCAGTGCAGTCGCCGGTCAGTGGCCCTGGCAGGTCAGCATCACCTATGAAGGCGTCCATGTGTGT
GGTGGCTCTCTCGTGTCTGAGCAGTGGGTGCTGTCAGCTGCTCACTGCTTCCCCAGCGAGCACCACAAGGAAGCCTATGAGGTCAAGCTGGGGGCCCACCAGCTA
GACTCCTACTCCGAGGACGCCAAGGTCAGCACCCTGAAGGACATCATCCCCCACCCCAGCTACCTCCAGGAGGGCTCCCAGGGCGACATTGCACTCCTCCAACTC
AGCAGACCCATCACCTTCTCCCGCTACATCCGGCCCATCTGCCTCCCTGCAGCCAACGCCTCCTTCCCCAACGGCCTCCACTGCACTGTCACTGGCTGGGGTCAT
GTGGCCCCCTCAGTGAGCCTCCTGACGCCCAAGCCACTGCAGCAACTCGAGGTGCCTCTGATCAGTCGTGAGACGTGTAACTGCCTGTACAACATCGACGCCAAG
CCTGAGGAGCCGCACTTTGTCCAAGAGGACATGGTGTGTGCTGGCTATGTGGAGGGGGGCAAGGACGCCTGCCAGGGTGACTCTGGGGGCCCACTCTCCTGCCCT
GTGGAGGGTCTCTGGTACCTGACGGGCATTGTGAGCTGGGGAGATGCCTGTGGGGCCCGCAACAGGCCTGGTGTGTACACTCTGGCCTCCAGCTATGCCTCCTGG
ATCCAAAGCAAGGTGACAGAACTCCAGCCTCGTGTGGTGCCCCAAACCCAGGAGTCCCAGCCCGACAGCAACCTCTGTGGCAGCCACCTGGCCTTCAGCTCTGCC
CCAGCCCAGGGCTTGCTGAGGCCCATCCTTTTCCTGCCTCTGGGCCTGGCTCTGGGCCTCCTCTCCCCATGGCTCAGCGAGCACTGA

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>PRSS8|5652|protein
MAQKGVLGPGQLGAVAILLYLGLLRSGTGAEGAEAPCGVAPQARITGGSSAVAGQWPWQVSITYEGVHVCGGSLVSEQWVLSAAHCFPSEHHKEAYEVKLGAHQL
DSYSEDAKVSTLKDIIPHPSYLQEGSQGDIALLQLSRPITFSRYIRPICLPAANASFPNGLHCTVTGWGHVAPSVSLLTPKPLQQLEVPLISRETCNCLYNIDAK
PEEPHFVQEDMVCAGYVEGGKDACQGDSGGPLSCPVEGLWYLTGIVSWGDACGARNRPGVYTLASSYASWIQSKVTELQPRVVPQTQESQPDSNLCGSHLAFSSA
PAQGLLRPILFLPLGLALGLLSPWLSEH

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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) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top