AutismKB 2.0

Evidence Details for MAPK13


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Basic Information Top
Gene Symbol:MAPK13 ( MGC99536,PRKM13,SAPK4,p38delta )
Gene Full Name: mitogen-activated protein kinase 13
Band: 6p21.31
Quick LinksEntrez ID:5603; OMIM: 602899; Uniprot ID:MK13_HUMAN; ENSEMBL ID: ENSG00000156711; HGNC ID: 6875
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAPK13|5603|nucleotide
ATGAGCCTCATCCGGAAAAAGGGCTTCTACAAGCAGGACGTCAACAAGACCGCCTGGGAGCTGCCCAAGACCTACGTGTCCCCGACGCACGTCGGCAGCGGGGCC
TATGGCTCCGTGTGCTCGGCCATCGACAAGCGGTCAGGGGAGAAGGTGGCCATCAAGAAGCTGAGCCGACCCTTTCAGTCCGAGATCTTCGCCAAGCGCGCCTAC
CGGGAGCTGCTGCTGCTGAAGCACATGCAGCATGAGAACGTCATTGGGCTCCTGGATGTCTTCACCCCAGCCTCCTCCCTGCGCAACTTCTATGACTTCTACCTG
GTGATGCCCTTCATGCAGACGGATCTGCAGAAGATCATGGGGATGGAGTTCAGTGAGGAGAAGATCCAGTACCTGGTGTATCAGATGCTCAAAGGCCTTAAGTAC
ATCCACTCTGCTGGGGTCGTGCACAGGGACCTGAAGCCAGGCAACCTGGCTGTGAATGAGGACTGTGAACTGAAGATTCTGGATTTTGGGCTGGCGCGACATGCA
GACGCCGAGATGACTGGCTACGTGGTGACCCGCTGGTACCGAGCCCCCGAGGTGATCCTCAGCTGGATGCACTACAACCAGACAGTGGACATCTGGTCTGTGGGC
TGTATCATGGCAGAGATGCTGACAGGGAAAACTCTGTTCAAGGGGAAAGATTACCTGGACCAGCTGACCCAGATCCTGAAAGTGACCGGGGTGCCTGGCACGGAG
TTTGTGCAGAAGCTGAACGACAAAGCGGCCAAATCCTACATCCAGTCCCTGCCACAGACCCCCAGGAAGGATTTCACTCAGCTGTTCCCACGGGCCAGCCCCCAG
GCTGCGGACCTGCTGGAGAAGATGCTGGAGCTAGACGTGGACAAGCGCCTGACGGCCGCGCAGGCCCTCACCCATCCCTTCTTTGAACCCTTCCGGGACCCTGAG
GAAGAGACGGAGGCCCAGCAGCCGTTTGATGATTCCTTAGAACACGAGAAACTCACAGTGGATGAATGGAAGCAGCACATCTACAAGGAGATTGTGAACTTCAGC
CCCATTGCCCGGAAGGACTCACGGCGCCGGAGTGGCATGAAGCTGTAG
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>MAPK13|5603|protein
MSLIRKKGFYKQDVNKTAWELPKTYVSPTHVGSGAYGSVCSAIDKRSGEKVAIKKLSRPFQSEIFAKRAYRELLLLKHMQHENVIGLLDVFTPASSLRNFYDFYL
VMPFMQTDLQKIMGMEFSEEKIQYLVYQMLKGLKYIHSAGVVHRDLKPGNLAVNEDCELKILDFGLARHADAEMTGYVVTRWYRAPEVILSWMHYNQTVDIWSVG
CIMAEMLTGKTLFKGKDYLDQLTQILKVTGVPGTEFVQKLNDKAAKSYIQSLPQTPRKDFTQLFPRASPQAADLLEKMLELDVDKRLTAAQALTHPFFEPFRDPE
EETEAQQPFDDSLEHEKLTVDEWKQHIYKEIVNFSPIARKDSRRRSGMKL

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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 (1) 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 13 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top