AutismKB 2.0

Evidence Details for MAP2K5


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Basic Information Top
Gene Symbol:MAP2K5 ( HsT17454,MAPKK5,MEK5,PRKMK5 )
Gene Full Name: mitogen-activated protein kinase kinase 5
Band: 15q23
Quick LinksEntrez 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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>MAP2K5|5607|protein
MLWLALGPFPAMENQVLVIRIKIPNSGAVDWTVHSGPQLLFRDVLDVIGQVLPEATTTAFEYEDEDGDRITVRSDEEMKAMLSYYYSTVMEQQVNGQLIEPLQIF
PRACKPPGERNIHGLKVNTRAGPSQHSSPAVSDSLPSNSLKKSSAELKKILANGQMNEQDIRYRDTLGHGNGGTVYKAYHVPSGKILAVKVILLDITLELQKQIM
SELEILYKCDSSYIIGFYGAFFVENRISICTEFMDGGSLDVYRKMPEHVLGRIAVAVVKGLTYLWSLKILHRDVKPSNMLVNTRGQVKLCDFGVSTQLVNSIAKT
YVGTNAYMAPERISGEQYGIHSDVWSLGISFMEIQKNQGSLMPLQLLQCIVDEDSPVLPVGEFSEPFVHFITQCMRKQPKERPAPEELMGHPFIVQFNDGNAAVV
SMWVCRALEERRSQQGPP
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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) 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 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top