Evidence Details for PRSS36
Basic Information Top
Gene Symbol: | PRSS36 ( FLJ90661 ) |
---|---|
Gene Full Name: | protease, serine, 36 |
Band: | 16p11.2 |
Quick Links | Entrez ID:146547; OMIM: 610560; Uniprot ID:POLS2_HUMAN; ENSEMBL ID: ENSG00000178226; HGNC ID: 26906 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PRSS36|146547|nucleotide
ATGGCCCGGCACCTGCTCCTCCCCCTTGTGATGCTTGTCATCAGTCCCATCCCAGGAGCCTTCCAGGACTCAGCTCTCAGTCCTACCCAGGAAGAACCTGAAGAT
CTGGACTGCGGGCGCCCTGAGCCCTCGGCCCGCATCGTGGGGGGCTCAAACGCGCAGCCGGGCACCTGGCCTTGGCAAGTGAGCCTGCACCATGGAGGTGGCCAC
ATCTGCGGGGGCTCCCTCATCGCCCCCTCCTGGGTCCTCTCCGCTGCTCACTGTTTCATGACGAATGGGACGCTGGAGCCCGCGGCCGAGTGGTCGGTACTGCTG
GGCGTGCACTCCCAGGACGGGCCCCTGGACGGCGCGCACACCCGCGCAGTGGCCGCCATCGTGGTGCCGGCCAACTACAGCCAAGTGGAGCTGGGCGCCGACCTG
GCCCTGCTGCGCCTGGCCTCACCCGCCAGCCTGGGCCCCGCCGTGTGGCCTGTCTGCCTGCCCCGCGCCTCACACCGCTTCGTGCACGGCACCGCCTGCTGGGCC
ACCGGCTGGGGAGACGTCCAGGAGGCAGATCCTCTGCCTCTCCCCTGGGTGCTACAGGAAGTGGAGCTAAGGCTGCTGGGCGAGGCCACCTGTCAATGTCTCTAC
AGCCAGCCCGGTCCCTTCAACCTCACTCTCCAGATATTGCCAGGGATGCTGTGTGCTGGCTACCCAGAGGGCCGCAGGGACACCTGCCAGGGTGACTCTGGGGGG
CCCCTGGTCTGTGAGGAAGGCGGCCGCTGGTTCCAGGCAGGAATCACCAGCTTTGGCTTTGGCTGTGGACGGAGAAACCGCCCTGGAGTTTTCACTGCTGTGGCT
ACCTATGAGGCATGGATACGGGAGCAGGTGATGGGTTCAGAGCCTGGGCCTGCCTTTCCCACCCAGCCCCAGAAGACCCAGTCAGATCCCCAGGAGCCCAGGGAG
GAGAACTGCACCATTGCCCTGCCTGAGTGCGGGAAGGCCCCGCGGCCAGGGGCCTGGCCCTGGGAGGCCCAGGTGATGGTGCCAGGATCCAGACCCTGCCATGGG
GCGCTGGTGTCTGAAAGCTGGGTCTTGGCACCTGCCAGCTGCTTTCTGGACCCGAACAGCTCCGACAGCCCACCCCGCGACCTCGACGCCTGGCGCGTGCTGCTG
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ATGGCCCGGCACCTGCTCCTCCCCCTTGTGATGCTTGTCATCAGTCCCATCCCAGGAGCCTTCCAGGACTCAGCTCTCAGTCCTACCCAGGAAGAACCTGAAGAT
CTGGACTGCGGGCGCCCTGAGCCCTCGGCCCGCATCGTGGGGGGCTCAAACGCGCAGCCGGGCACCTGGCCTTGGCAAGTGAGCCTGCACCATGGAGGTGGCCAC
ATCTGCGGGGGCTCCCTCATCGCCCCCTCCTGGGTCCTCTCCGCTGCTCACTGTTTCATGACGAATGGGACGCTGGAGCCCGCGGCCGAGTGGTCGGTACTGCTG
GGCGTGCACTCCCAGGACGGGCCCCTGGACGGCGCGCACACCCGCGCAGTGGCCGCCATCGTGGTGCCGGCCAACTACAGCCAAGTGGAGCTGGGCGCCGACCTG
GCCCTGCTGCGCCTGGCCTCACCCGCCAGCCTGGGCCCCGCCGTGTGGCCTGTCTGCCTGCCCCGCGCCTCACACCGCTTCGTGCACGGCACCGCCTGCTGGGCC
ACCGGCTGGGGAGACGTCCAGGAGGCAGATCCTCTGCCTCTCCCCTGGGTGCTACAGGAAGTGGAGCTAAGGCTGCTGGGCGAGGCCACCTGTCAATGTCTCTAC
AGCCAGCCCGGTCCCTTCAACCTCACTCTCCAGATATTGCCAGGGATGCTGTGTGCTGGCTACCCAGAGGGCCGCAGGGACACCTGCCAGGGTGACTCTGGGGGG
CCCCTGGTCTGTGAGGAAGGCGGCCGCTGGTTCCAGGCAGGAATCACCAGCTTTGGCTTTGGCTGTGGACGGAGAAACCGCCCTGGAGTTTTCACTGCTGTGGCT
ACCTATGAGGCATGGATACGGGAGCAGGTGATGGGTTCAGAGCCTGGGCCTGCCTTTCCCACCCAGCCCCAGAAGACCCAGTCAGATCCCCAGGAGCCCAGGGAG
GAGAACTGCACCATTGCCCTGCCTGAGTGCGGGAAGGCCCCGCGGCCAGGGGCCTGGCCCTGGGAGGCCCAGGTGATGGTGCCAGGATCCAGACCCTGCCATGGG
GCGCTGGTGTCTGAAAGCTGGGTCTTGGCACCTGCCAGCTGCTTTCTGGACCCGAACAGCTCCGACAGCCCACCCCGCGACCTCGACGCCTGGCGCGTGCTGCTG
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>PRSS36|146547|protein
MARHLLLPLVMLVISPIPGAFQDSALSPTQEEPEDLDCGRPEPSARIVGGSNAQPGTWPWQVSLHHGGGHICGGSLIAPSWVLSAAHCFMTNGTLEPAAEWSVLL
GVHSQDGPLDGAHTRAVAAIVVPANYSQVELGADLALLRLASPASLGPAVWPVCLPRASHRFVHGTACWATGWGDVQEADPLPLPWVLQEVELRLLGEATCQCLY
SQPGPFNLTLQILPGMLCAGYPEGRRDTCQGDSGGPLVCEEGGRWFQAGITSFGFGCGRRNRPGVFTAVATYEAWIREQVMGSEPGPAFPTQPQKTQSDPQEPRE
ENCTIALPECGKAPRPGAWPWEAQVMVPGSRPCHGALVSESWVLAPASCFLDPNSSDSPPRDLDAWRVLLPSRPRAERVARLVQHENASWDNASDLALLQLRTPV
NLSAASRPVCLPHPEHYFLPGSRCRLARWGRGEPALGPGALLEAELLGGWWCHCLYGRQGAAVPLPGDPPHALCPAYQEKEEVGSCWNDSRWSLLCQEEGTWFLA
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MARHLLLPLVMLVISPIPGAFQDSALSPTQEEPEDLDCGRPEPSARIVGGSNAQPGTWPWQVSLHHGGGHICGGSLIAPSWVLSAAHCFMTNGTLEPAAEWSVLL
GVHSQDGPLDGAHTRAVAAIVVPANYSQVELGADLALLRLASPASLGPAVWPVCLPRASHRFVHGTACWATGWGDVQEADPLPLPWVLQEVELRLLGEATCQCLY
SQPGPFNLTLQILPGMLCAGYPEGRRDTCQGDSGGPLVCEEGGRWFQAGITSFGFGCGRRNRPGVFTAVATYEAWIREQVMGSEPGPAFPTQPQKTQSDPQEPRE
ENCTIALPECGKAPRPGAWPWEAQVMVPGSRPCHGALVSESWVLAPASCFLDPNSSDSPPRDLDAWRVLLPSRPRAERVARLVQHENASWDNASDLALLQLRTPV
NLSAASRPVCLPHPEHYFLPGSRCRLARWGRGEPALGPGALLEAELLGGWWCHCLYGRQGAAVPLPGDPPHALCPAYQEKEEVGSCWNDSRWSLLCQEEGTWFLA
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
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 | - | FISH | autistic feature | - | - | - | - | 2 | - | 2 | ||
Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | ASD | 751 | - | - | - | 2252 | 23502 | 25754 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 | ||
Gregory, 2009 | USA | aCGH | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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