AutismKB 2.0

Evidence Details for PRSS2


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Basic Information Top
Gene Symbol:PRSS2 ( MGC111183,MGC120174,MGC120175,TRY2,TRY8,TRYP2 )
Gene Full Name: protease, serine, 2 (trypsin 2)
Band: 7q34
Quick LinksEntrez ID:5645; OMIM: 601564; Uniprot ID:TRY2_HUMAN; ENSEMBL ID: ENSG00000204983; HGNC ID: 9483
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRSS2|5645|nucleotide
ATGAATCTACTTCTGATCCTTACCTTTGTTGCAGCTGCTGTTGCTGCCCCCTTTGATGATGATGACAAGATCGTTGGGGGCTACATCTGTGAGGAGAATTCTGTC
CCCTACCAGGTGTCCTTGAATTCTGGCTACCACTTCTGCGGTGGCTCCCTCATCAGCGAACAGTGGGTGGTGTCAGCAGGTCACTGCTACAAGTCCCGCATCCAG
GTGAGACTGGGAGAGCACAACATCGAAGTCCTGGAGGGGAATGAACAGTTCATCAATGCAGCCAAGATCATCCGCCACCCCAAATACAACAGCCGGACTCTGGAC
AATGACATCCTGCTGATCAAGCTCTCCTCACCTGCCGTCATCAATTCCCGCGTGTCCGCCATCTCTCTGCCCACTGCCCCTCCAGCTGCTGGCACCGAGTCCCTC
ATCTCCGGCTGGGGCAACACTCTGAGTTCTGGTGCCGACTACCCAGACGAGCTGCAGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTGAGTGTGAAGCCTCCTAC
CCTGGAAAGATTACCAACAACATGTTCTGTGTGGGCTTCCTCGAGGGAGGCAAGGATTCCTGCCAGGGTGATTCTGGTGGCCCTGTGGTCTCCAATGGAGAGCTC
CAAGGAATTGTCTCCTGGGGCTATGGCTGTGCCCAGAAGAACAGGCCTGGAGTCTACACCAAGGTCTACAACTATGTGGACTGGATTAAGGACACCATAGCTGCC
AACAGCTAA



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>PRSS2|5645|protein
MNLLLILTFVAAAVAAPFDDDDKIVGGYICEENSVPYQVSLNSGYHFCGGSLISEQWVVSAGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPKYNSRTLD
NDILLIKLSSPAVINSRVSAISLPTAPPAAGTESLISGWGNTLSSGADYPDELQCLDAPVLSQAECEASYPGKITNNMFCVGFLEGGKDSCQGDSGGPVVSNGEL
QGIVSWGYGCAQKNRPGVYTKVYNYVDWIKDTIAANS


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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) 1 (1) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top