Evidence Details for PRSS12
Basic Information Top
| Gene Symbol: | PRSS12 ( BSSP-3,BSSP3,MGC12722,MRT1 ) |
|---|---|
| Gene Full Name: | protease, serine, 12 (neurotrypsin, motopsin) |
| Band: | 4q26 |
| Quick Links | Entrez ID:8492; OMIM: 606709; Uniprot ID:NETR_HUMAN; ENSEMBL ID: ENSG00000164099; HGNC ID: 9477 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PRSS12|8492|nucleotide
ATGACGCTCGCCCGCTTCGTGCTAGCCCTGATGTTAGGGGCGCTCCCCGAAGTGGTCGGCTTTGATTCTGTCCTCAATGATTCCCTCCACCACAGCCACCGCCAT
TCGCCCCCTGCGGGTCCGCACTACCCCTATTACCTTCCCACCCAGCAGCGGCCCCCGAGGACGCGTCCGCCGCCGCCTCTCCCGCGCTTCCCGCGCCCCCCGCGG
GCGCTCCCTGCCCAGCGCCCGCACGCCCTCCAGGCCGGGCACACGCCCCGGCCGCACCCCTGGGGCTGCCCCGCCGGCGAGCCATGGGTCAGCGTGACGGACTTC
GGCGCCCCGTGTCTGCGGTGGGCGGAGGTGCCACCCTTCCTGGAGCGGTCGCCCCCAGCGAGCTGGGCTCAGCTGCGAGGACAGCGCCACAACTTTTGTCGGAGC
CCCGACGGCGCGGGCAGACCCTGGTGTTTCTACGGAGACGCCCGTGGCAAGGTGGACTGGGGCTACTGCGACTGCAGACACGGATCAGTACGACTTCGTGGCGGC
AAAAATGAGTTTGAAGGCACAGTGGAAGTATATGCAAGTGGAGTTTGGGGCACTGTCTGTAGCAGCCACTGGGATGATTCTGATGCATCAGTCATTTGTCACCAG
CTGCAGCTGGGAGGAAAAGGAATAGCAAAACAAACCCCGTTTTCTGGACTGGGCCTTATTCCCATTTATTGGAGCAATGTCCGTTGCCGAGGAGATGAAGAAAAT
ATACTGCTTTGTGAAAAAGACATCTGGCAGGGTGGGGTGTGTCCTCAGAAGATGGCAGCTGCTGTCACGTGTAGCTTTTCCCATGGCCCAACGTTCCCCATCATT
CGCCTTGCTGGAGGCAGCAGTGTGCATGAAGGCCGGGTGGAGCTCTACCATGCTGGCCAGTGGGGAACCGTTTGTGATGACCAATGGGATGATGCCGATGCAGAA
GTGATCTGCAGGCAGCTGGGCCTCAGTGGCATTGCCAAAGCATGGCATCAGGCATATTTTGGGGAAGGGTCTGGCCCAGTTATGTTGGATGAAGTACGCTGCACT
GGGAATGAGCTTTCAATTGAGCAGTGTCCAAAGAGCTCCTGGGGAGAGCATAACTGTGGCCATAAAGAAGATGCTGGAGTGTCCTGTACCCCTCTAACAGATGGG
Show »
ATGACGCTCGCCCGCTTCGTGCTAGCCCTGATGTTAGGGGCGCTCCCCGAAGTGGTCGGCTTTGATTCTGTCCTCAATGATTCCCTCCACCACAGCCACCGCCAT
TCGCCCCCTGCGGGTCCGCACTACCCCTATTACCTTCCCACCCAGCAGCGGCCCCCGAGGACGCGTCCGCCGCCGCCTCTCCCGCGCTTCCCGCGCCCCCCGCGG
GCGCTCCCTGCCCAGCGCCCGCACGCCCTCCAGGCCGGGCACACGCCCCGGCCGCACCCCTGGGGCTGCCCCGCCGGCGAGCCATGGGTCAGCGTGACGGACTTC
GGCGCCCCGTGTCTGCGGTGGGCGGAGGTGCCACCCTTCCTGGAGCGGTCGCCCCCAGCGAGCTGGGCTCAGCTGCGAGGACAGCGCCACAACTTTTGTCGGAGC
CCCGACGGCGCGGGCAGACCCTGGTGTTTCTACGGAGACGCCCGTGGCAAGGTGGACTGGGGCTACTGCGACTGCAGACACGGATCAGTACGACTTCGTGGCGGC
AAAAATGAGTTTGAAGGCACAGTGGAAGTATATGCAAGTGGAGTTTGGGGCACTGTCTGTAGCAGCCACTGGGATGATTCTGATGCATCAGTCATTTGTCACCAG
CTGCAGCTGGGAGGAAAAGGAATAGCAAAACAAACCCCGTTTTCTGGACTGGGCCTTATTCCCATTTATTGGAGCAATGTCCGTTGCCGAGGAGATGAAGAAAAT
ATACTGCTTTGTGAAAAAGACATCTGGCAGGGTGGGGTGTGTCCTCAGAAGATGGCAGCTGCTGTCACGTGTAGCTTTTCCCATGGCCCAACGTTCCCCATCATT
CGCCTTGCTGGAGGCAGCAGTGTGCATGAAGGCCGGGTGGAGCTCTACCATGCTGGCCAGTGGGGAACCGTTTGTGATGACCAATGGGATGATGCCGATGCAGAA
GTGATCTGCAGGCAGCTGGGCCTCAGTGGCATTGCCAAAGCATGGCATCAGGCATATTTTGGGGAAGGGTCTGGCCCAGTTATGTTGGATGAAGTACGCTGCACT
GGGAATGAGCTTTCAATTGAGCAGTGTCCAAAGAGCTCCTGGGGAGAGCATAACTGTGGCCATAAAGAAGATGCTGGAGTGTCCTGTACCCCTCTAACAGATGGG
Show »
>PRSS12|8492|protein
MTLARFVLALMLGALPEVVGFDSVLNDSLHHSHRHSPPAGPHYPYYLPTQQRPPRTRPPPPLPRFPRPPRALPAQRPHALQAGHTPRPHPWGCPAGEPWVSVTDF
GAPCLRWAEVPPFLERSPPASWAQLRGQRHNFCRSPDGAGRPWCFYGDARGKVDWGYCDCRHGSVRLRGGKNEFEGTVEVYASGVWGTVCSSHWDDSDASVICHQ
LQLGGKGIAKQTPFSGLGLIPIYWSNVRCRGDEENILLCEKDIWQGGVCPQKMAAAVTCSFSHGPTFPIIRLAGGSSVHEGRVELYHAGQWGTVCDDQWDDADAE
VICRQLGLSGIAKAWHQAYFGEGSGPVMLDEVRCTGNELSIEQCPKSSWGEHNCGHKEDAGVSCTPLTDGVIRLAGGKGSHEGRLEVYYRGQWGTVCDDGWTELN
TYVVCRQLGFKYGKQASANHFEESTGPIWLDDVSCSGKETRFLQCSRRQWGRHDCSHREDVSIACYPGGEGHRLSLGFPVRLMDGENKKEGRVEVFINGQWGTIC
Show »
MTLARFVLALMLGALPEVVGFDSVLNDSLHHSHRHSPPAGPHYPYYLPTQQRPPRTRPPPPLPRFPRPPRALPAQRPHALQAGHTPRPHPWGCPAGEPWVSVTDF
GAPCLRWAEVPPFLERSPPASWAQLRGQRHNFCRSPDGAGRPWCFYGDARGKVDWGYCDCRHGSVRLRGGKNEFEGTVEVYASGVWGTVCSSHWDDSDASVICHQ
LQLGGKGIAKQTPFSGLGLIPIYWSNVRCRGDEENILLCEKDIWQGGVCPQKMAAAVTCSFSHGPTFPIIRLAGGSSVHEGRVELYHAGQWGTVCDDQWDDADAE
VICRQLGLSGIAKAWHQAYFGEGSGPVMLDEVRCTGNELSIEQCPKSSWGEHNCGHKEDAGVSCTPLTDGVIRLAGGKGSHEGRLEVYYRGQWGTVCDDGWTELN
TYVVCRQLGFKYGKQASANHFEESTGPIWLDDVSCSGKETRFLQCSRRQWGRHDCSHREDVSIACYPGGEGHRLSLGFPVRLMDGENKKEGRVEVFINGQWGTIC
Show »
Evidence summary TopClick 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) | Yes | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AR |
|---|---|
| OMIM | Mental retardation, autosomal recessive 1 (249500) |
| Description | Autosomal recessive non-syndromic ID; mutated in 3 consanguineous families from North Africa, including one with two brothers with autism and ID |
| Reference(s) | -; |
| Level | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Cusco, 2008 | Spanish | aCGH |  |  | ASD | - | - | - | - | 96 | 100 | 196 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.