Evidence Details for PREX2
Basic Information Top
Gene Symbol: | PREX2 ( 6230420N16Rik,DEP.2,DEPDC2,P-REX2 ) |
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Gene Full Name: | phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
Band: | 8q13.2 |
Quick Links | Entrez ID:80243; OMIM: 612139; Uniprot ID:PREX2_HUMAN; ENSEMBL ID: ENSG00000046889; HGNC ID: 22950 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PREX2|80243|nucleotide
ATGAGCGAGGACAGCCGCGGAGACAGCCGCGCCGAGAGCGCCAAGGACCTGGAGAAGCAGCTTCGCCTGCGCGTGTGCGTGCTCAGCGAGCTCCAGAAGACCGAG
CGGGACTATGTGGGCACGCTGGAGTTCCTGGTGTCGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTG
AAGATGTTGTTCTCAAACATTGAAGACATCCTTGCAGTACATAAAGAATTCTTAAAAGTCGTGGAAGAATGCTTACACCCCGAACCTAATGCTCAACAAGAAGTG
GGAACCTGCTTTCTTCACTTTAAAGACAAGTTTCGTATCTATGATGAATATTGTAGTAACCATGAGAAGGCACAAAAATTACTTCTTGAACTCAACAAAATAAGA
ACAATCCGGACATTTCTTTTGAACTGCATGCTGCTTGGAGGACGGAAGAACACAGATGTTCCCTTGGAAGGATATTTAGTAACACCAATACAAAGAATATGCAAG
TACCCTCTTATTTTGAAGGAGTTGCTGAAGCGGACTCCACGGAAACACAGTGACTATGCAGCAGTGATGGAAGCCCTCCAAGCCATGAAAGCTGTCTGTTCCAAC
ATAAACGAGGCCAAGAGACAGATGGAGAAGTTAGAAGTTTTAGAGGAATGGCAGTCTCACATTGAAGGCTGGGAGGGGTCCAACATCACTGACACCTGCACTGAA
ATGCTAATGTGTGGAGTCTTACTGAAAATTTCTTCTGGAAATATTCAAGAACGGGTGTTTTTTCTTTTCGATAATCTTTTGGTGTACTGCAAAAGAAAACACAGA
CGGTTGAAGAACAGCAAGGCATCTACAGATGGACATCGGTACCTTTTTCGTGGCCGGATCAACACGGAGGTGATGGAAGTGGAGAATGTGGATGATGGCACCGCT
GATTTCCATAGCAGTGGACACATTGTTGTTAATGGATGGAAGATACATAACACAGCAAAAAATAAATGGTTTGTTTGTATGGCAAAAACACCTGAAGAGAAGCAT
GAATGGTTTGAAGCTATTTTGAAAGAAAGAGAACGGCGGAAAGGTTTAAAATTAGGAATGGAGCAAGATACCTGGGTCATGATCTCTGAACAGGGTGAGAAACTT
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ATGAGCGAGGACAGCCGCGGAGACAGCCGCGCCGAGAGCGCCAAGGACCTGGAGAAGCAGCTTCGCCTGCGCGTGTGCGTGCTCAGCGAGCTCCAGAAGACCGAG
CGGGACTATGTGGGCACGCTGGAGTTCCTGGTGTCGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTG
AAGATGTTGTTCTCAAACATTGAAGACATCCTTGCAGTACATAAAGAATTCTTAAAAGTCGTGGAAGAATGCTTACACCCCGAACCTAATGCTCAACAAGAAGTG
GGAACCTGCTTTCTTCACTTTAAAGACAAGTTTCGTATCTATGATGAATATTGTAGTAACCATGAGAAGGCACAAAAATTACTTCTTGAACTCAACAAAATAAGA
ACAATCCGGACATTTCTTTTGAACTGCATGCTGCTTGGAGGACGGAAGAACACAGATGTTCCCTTGGAAGGATATTTAGTAACACCAATACAAAGAATATGCAAG
TACCCTCTTATTTTGAAGGAGTTGCTGAAGCGGACTCCACGGAAACACAGTGACTATGCAGCAGTGATGGAAGCCCTCCAAGCCATGAAAGCTGTCTGTTCCAAC
ATAAACGAGGCCAAGAGACAGATGGAGAAGTTAGAAGTTTTAGAGGAATGGCAGTCTCACATTGAAGGCTGGGAGGGGTCCAACATCACTGACACCTGCACTGAA
ATGCTAATGTGTGGAGTCTTACTGAAAATTTCTTCTGGAAATATTCAAGAACGGGTGTTTTTTCTTTTCGATAATCTTTTGGTGTACTGCAAAAGAAAACACAGA
CGGTTGAAGAACAGCAAGGCATCTACAGATGGACATCGGTACCTTTTTCGTGGCCGGATCAACACGGAGGTGATGGAAGTGGAGAATGTGGATGATGGCACCGCT
GATTTCCATAGCAGTGGACACATTGTTGTTAATGGATGGAAGATACATAACACAGCAAAAAATAAATGGTTTGTTTGTATGGCAAAAACACCTGAAGAGAAGCAT
GAATGGTTTGAAGCTATTTTGAAAGAAAGAGAACGGCGGAAAGGTTTAAAATTAGGAATGGAGCAAGATACCTGGGTCATGATCTCTGAACAGGGTGAGAAACTT
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>PREX2|80243|protein
MSEDSRGDSRAESAKDLEKQLRLRVCVLSELQKTERDYVGTLEFLVSAFLHRMNQCAASKVDKNVTEETVKMLFSNIEDILAVHKEFLKVVEECLHPEPNAQQEV
GTCFLHFKDKFRIYDEYCSNHEKAQKLLLELNKIRTIRTFLLNCMLLGGRKNTDVPLEGYLVTPIQRICKYPLILKELLKRTPRKHSDYAAVMEALQAMKAVCSN
INEAKRQMEKLEVLEEWQSHIEGWEGSNITDTCTEMLMCGVLLKISSGNIQERVFFLFDNLLVYCKRKHRRLKNSKASTDGHRYLFRGRINTEVMEVENVDDGTA
DFHSSGHIVVNGWKIHNTAKNKWFVCMAKTPEEKHEWFEAILKERERRKGLKLGMEQDTWVMISEQGEKLYKMMCRQGNLIKDRKRKLTTFPKCFLGSEFVSWLL
EIGEIHRPEEGVHLGQALLENGIIHHVTDKHQFKPEQMLYRFRYDDGTFYPRNEMQDVISKGVRLYCRLHSLFTPVIRDKDYHLRTYKSVVMANKLIDWLIAQGD
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MSEDSRGDSRAESAKDLEKQLRLRVCVLSELQKTERDYVGTLEFLVSAFLHRMNQCAASKVDKNVTEETVKMLFSNIEDILAVHKEFLKVVEECLHPEPNAQQEV
GTCFLHFKDKFRIYDEYCSNHEKAQKLLLELNKIRTIRTFLLNCMLLGGRKNTDVPLEGYLVTPIQRICKYPLILKELLKRTPRKHSDYAAVMEALQAMKAVCSN
INEAKRQMEKLEVLEEWQSHIEGWEGSNITDTCTEMLMCGVLLKISSGNIQERVFFLFDNLLVYCKRKHRRLKNSKASTDGHRYLFRGRINTEVMEVENVDDGTA
DFHSSGHIVVNGWKIHNTAKNKWFVCMAKTPEEKHEWFEAILKERERRKGLKLGMEQDTWVMISEQGEKLYKMMCRQGNLIKDRKRKLTTFPKCFLGSEFVSWLL
EIGEIHRPEEGVHLGQALLENGIIHHVTDKHQFKPEQMLYRFRYDDGTFYPRNEMQDVISKGVRLYCRLHSLFTPVIRDKDYHLRTYKSVVMANKLIDWLIAQGD
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | (0) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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