AutismKB 2.0

Evidence Details for MAPK4


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Basic Information Top
Gene Symbol:MAPK4 ( ERK3,Erk4,PRKM4,p63MAPK )
Gene Full Name: mitogen-activated protein kinase 4
Band: 18q21.1-q21.2
Quick LinksEntrez ID:5596; OMIM: 176949; Uniprot ID:MK04_HUMAN; ENSEMBL ID: ENSG00000141639; HGNC ID: 6878
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAPK4|5596|nucleotide
ATGGCTGAGAAGGGTGACTGCATCGCCAGTGTCTATGGGTATGACCTCGGTGGGCGCTTTGTTGACTTCCAACCCCTGGGCTTCGGTGTCAATGGTTTGGTGCTG
TCGGCCGTGGACAGCCGGGCCTGCCGGAAGGTCGCTGTGAAGAAGATTGCCCTGAGCGATGCCCGCAGCATGAAGCACGCGCTCCGAGAGATCAAGATCATTCGG
CGCCTGGACCACGACAACATCGTCAAAGTGTACGAGGTGCTCGGTCCCAAGGGCACTGACCTGCAGGGTGAGCTGTTCAAGTTCAGCGTGGCGTACATCGTCCAG
GAGTACATGGAGACCGACCTGGCACGCCTGCTGGAGCAGGGCACGCTGGCAGAAGAGCATGCCAAGCTGTTCATGTACCAGCTGCTCCGCGGGCTCAAGTACATC
CACTCCGCCAACGTGCTGCACAGGGACCTGAAGCCCGCCAACATCTTCATCAGCACAGAGGACCTCGTGCTCAAGATTGGGGATTTCGGGTTGGCAAGGATCGTT
GATCAGCATTACTCCCACAAGGGTTATCTGTCAGAAGGGTTGGTAACAAAGTGGTACCGTTCCCCACGACTGCTCCTTTCCCCCAATAACTACACCAAAGCCATC
GACATGTGGGCCGCCGGCTGCATCCTGGCTGAGATGCTTACGGGGAGAATGCTCTTTGCTGGGGCCCATGAGCTGGAGCAGATGCAACTCATCCTGGAGACCATC
CCTGTAATCCGGGAGGAAGACAAGGACGAGCTGCTCAGGGTGATGCCTTCCTTTGTCAGCAGCACCTGGGAGGTGAAGAGGCCTCTGCGCAAGCTGCTCCCTGAA
GTGAACAGTGAAGCCATCGACTTTCTGGAGAAGATCCTGACCTTTAACCCCATGGATCGCCTAACAGCTGAGATGGGGCTGCAACACCCCTACATGAGCCCATAC
TCGTGCCCTGAGGACGAGCCCACCTCACAACACCCCTTCCGCATTGAGGATGAGATCGACGACATCGTGCTGATGGCCGCTAACCAGAGCCAGCTGTCCAACTGG
GACACGTGCAGTTCCAGGTACCCTGTGAGCCTGTCGTCGGACCTGGAGTGGCGGCCTGACCGGTGCCAGGACGCCAGCGAGGTACAGCGCGACCCGCGCGCGGGT
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>MAPK4|5596|protein
MAEKGDCIASVYGYDLGGRFVDFQPLGFGVNGLVLSAVDSRACRKVAVKKIALSDARSMKHALREIKIIRRLDHDNIVKVYEVLGPKGTDLQGELFKFSVAYIVQ
EYMETDLARLLEQGTLAEEHAKLFMYQLLRGLKYIHSANVLHRDLKPANIFISTEDLVLKIGDFGLARIVDQHYSHKGYLSEGLVTKWYRSPRLLLSPNNYTKAI
DMWAAGCILAEMLTGRMLFAGAHELEQMQLILETIPVIREEDKDELLRVMPSFVSSTWEVKRPLRKLLPEVNSEAIDFLEKILTFNPMDRLTAEMGLQHPYMSPY
SCPEDEPTSQHPFRIEDEIDDIVLMAANQSQLSNWDTCSSRYPVSLSSDLEWRPDRCQDASEVQRDPRAGSAPLAEDVQVDPRKDSHSSSERFLEQSHSSMERAF
EADYGRSCDYKVGSPSYLDKLLWRDNKPHHYSEPKLILDLSHWKQAAGAPPTATGLADTGAREDEPASLFLEIAQWVKSTQGGPEHASPPADDPERRLSASPPGR
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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) 0 (1) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top