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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
-1.39 Down 0.0855
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1749327
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2012 - 343 50 De novo gene disruptions in children on the autistic spectrum.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018