Evidence Details for MAPK13
Basic Information Top
Gene Symbol: | MAPK13 ( MGC99536,PRKM13,SAPK4,p38delta ) |
---|---|
Gene Full Name: | mitogen-activated protein kinase 13 |
Band: | 6p21.31 |
Quick Links | Entrez 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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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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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 microarray | ASD | - | - | - | - | 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 | |||
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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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