Evidence Details for MAP2K5
Basic Information Top
Gene Symbol: | MAP2K5 ( HsT17454,MAPKK5,MEK5,PRKMK5 ) |
---|---|
Gene Full Name: | mitogen-activated protein kinase kinase 5 |
Band: | 15q23 |
Quick Links | Entrez ID:5607; OMIM: 602520; Uniprot ID:MP2K5_HUMAN; ENSEMBL ID: ENSG00000137764; HGNC ID: 6845 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MAP2K5|5607|nucleotide
ATGCTGTGGCTAGCCCTTGGCCCCTTTCCTGCCATGGAGAACCAGGTGCTGGTAATTCGCATCAAGATCCCAAATAGTGGCGCGGTGGACTGGACAGTGCACTCC
GGGCCGCAGTTACTCTTCAGGGATGTGCTGGATGTGATAGGCCAGGTTCTGCCTGAAGCAACAACTACAGCATTTGAATATGAAGATGAAGATGGTGATCGAATT
ACAGTGAGAAGTGATGAGGAAATGAAGGCAATGCTGTCATATTATTATTCCACAGTAATGGAACAGCAAGTAAATGGACAGTTAATAGAGCCTCTGCAGATATTT
CCAAGAGCCTGCAAGCCTCCTGGGGAACGGAACATACATGGCCTGAAGGTGAATACTCGGGCCGGACCCTCTCAACACAGCAGCCCAGCAGTCTCAGATTCACTT
CCAAGCAATAGCTTAAAGAAGTCTTCTGCTGAACTGAAAAAAATACTAGCCAATGGCCAGATGAATGAACAAGACATACGATATCGGGACACTCTTGGTCATGGC
AACGGAGGCACAGTCTACAAAGCATATCATGTCCCGAGTGGGAAAATATTAGCTGTAAAGGTCATACTACTAGATATTACACTGGAACTTCAGAAGCAAATTATG
TCTGAATTGGAAATTCTTTATAAGTGCGATTCATCATATATCATTGGATTTTATGGAGCATTTTTTGTAGAAAACAGGATTTCAATATGTACAGAATTCATGGAT
GGGGGATCTTTGGATGTATATAGGAAAATGCCAGAACATGTCCTTGGAAGAATTGCAGTAGCAGTTGTTAAAGGCCTTACTTATTTGTGGAGTTTAAAGATTTTA
CATAGAGACGTGAAGCCCTCCAATATGCTAGTAAACACAAGAGGACAGGTTAAGCTGTGTGATTTTGGAGTTAGCACTCAGCTGGTGAATTCTATAGCCAAGACG
TATGTTGGAACAAATGCTTATATGGCGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGATTCAG
AAAAACCAGGGATCTTTAATGCCTCTCCAGCTTCTGCAGTGCATTGTTGATGAGGATTCGCCCGTCCTTCCAGTTGGAGAGTTCTCGGAGCCATTTGTACATTTC
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ATGCTGTGGCTAGCCCTTGGCCCCTTTCCTGCCATGGAGAACCAGGTGCTGGTAATTCGCATCAAGATCCCAAATAGTGGCGCGGTGGACTGGACAGTGCACTCC
GGGCCGCAGTTACTCTTCAGGGATGTGCTGGATGTGATAGGCCAGGTTCTGCCTGAAGCAACAACTACAGCATTTGAATATGAAGATGAAGATGGTGATCGAATT
ACAGTGAGAAGTGATGAGGAAATGAAGGCAATGCTGTCATATTATTATTCCACAGTAATGGAACAGCAAGTAAATGGACAGTTAATAGAGCCTCTGCAGATATTT
CCAAGAGCCTGCAAGCCTCCTGGGGAACGGAACATACATGGCCTGAAGGTGAATACTCGGGCCGGACCCTCTCAACACAGCAGCCCAGCAGTCTCAGATTCACTT
CCAAGCAATAGCTTAAAGAAGTCTTCTGCTGAACTGAAAAAAATACTAGCCAATGGCCAGATGAATGAACAAGACATACGATATCGGGACACTCTTGGTCATGGC
AACGGAGGCACAGTCTACAAAGCATATCATGTCCCGAGTGGGAAAATATTAGCTGTAAAGGTCATACTACTAGATATTACACTGGAACTTCAGAAGCAAATTATG
TCTGAATTGGAAATTCTTTATAAGTGCGATTCATCATATATCATTGGATTTTATGGAGCATTTTTTGTAGAAAACAGGATTTCAATATGTACAGAATTCATGGAT
GGGGGATCTTTGGATGTATATAGGAAAATGCCAGAACATGTCCTTGGAAGAATTGCAGTAGCAGTTGTTAAAGGCCTTACTTATTTGTGGAGTTTAAAGATTTTA
CATAGAGACGTGAAGCCCTCCAATATGCTAGTAAACACAAGAGGACAGGTTAAGCTGTGTGATTTTGGAGTTAGCACTCAGCTGGTGAATTCTATAGCCAAGACG
TATGTTGGAACAAATGCTTATATGGCGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGATTCAG
AAAAACCAGGGATCTTTAATGCCTCTCCAGCTTCTGCAGTGCATTGTTGATGAGGATTCGCCCGTCCTTCCAGTTGGAGAGTTCTCGGAGCCATTTGTACATTTC
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>MAP2K5|5607|protein
MLWLALGPFPAMENQVLVIRIKIPNSGAVDWTVHSGPQLLFRDVLDVIGQVLPEATTTAFEYEDEDGDRITVRSDEEMKAMLSYYYSTVMEQQVNGQLIEPLQIF
PRACKPPGERNIHGLKVNTRAGPSQHSSPAVSDSLPSNSLKKSSAELKKILANGQMNEQDIRYRDTLGHGNGGTVYKAYHVPSGKILAVKVILLDITLELQKQIM
SELEILYKCDSSYIIGFYGAFFVENRISICTEFMDGGSLDVYRKMPEHVLGRIAVAVVKGLTYLWSLKILHRDVKPSNMLVNTRGQVKLCDFGVSTQLVNSIAKT
YVGTNAYMAPERISGEQYGIHSDVWSLGISFMEIQKNQGSLMPLQLLQCIVDEDSPVLPVGEFSEPFVHFITQCMRKQPKERPAPEELMGHPFIVQFNDGNAAVV
SMWVCRALEERRSQQGPP
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MLWLALGPFPAMENQVLVIRIKIPNSGAVDWTVHSGPQLLFRDVLDVIGQVLPEATTTAFEYEDEDGDRITVRSDEEMKAMLSYYYSTVMEQQVNGQLIEPLQIF
PRACKPPGERNIHGLKVNTRAGPSQHSSPAVSDSLPSNSLKKSSAELKKILANGQMNEQDIRYRDTLGHGNGGTVYKAYHVPSGKILAVKVILLDITLELQKQIM
SELEILYKCDSSYIIGFYGAFFVENRISICTEFMDGGSLDVYRKMPEHVLGRIAVAVVKGLTYLWSLKILHRDVKPSNMLVNTRGQVKLCDFGVSTQLVNSIAKT
YVGTNAYMAPERISGEQYGIHSDVWSLGISFMEIQKNQGSLMPLQLLQCIVDEDSPVLPVGEFSEPFVHFITQCMRKQPKERPAPEELMGHPFIVQFNDGNAAVV
SMWVCRALEERRSQQGPP
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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) | 1 (2) | 0 (0) | 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 | ||||||
Smith, 2000 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
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 |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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