AutismKB 2.0

Evidence Details for MYPN


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Basic Information Top
Gene Symbol:MYPN ( MYOP )
Gene Full Name: myopalladin
Band: 10q21.3
Quick LinksEntrez ID:84665; OMIM: 608517; Uniprot ID:MYPN_HUMAN; ENSEMBL ID: ENSG00000138347; HGNC ID: 23246
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYPN|84665|nucleotide
ATGCAAGACGACAGCATAGAAGCTTCTACTTCCATATCTCAGCTTCTAAGAGAGAGCTATTTAGCTGAAACCAGACATCGGGGAAACAATGAGAGGAGTCGAGCG
GAGCCCTCCTCCAACCCTTGCCATTTCGGCAGTCCTTCTGGGGCCGCTGAAGGAGGCGGAGGCCAAGATGACCTTCCAGATCTTTCAGCCTTTCTGAGCCAAGAA
GAATTAGACGAAAGTGTCAATTTGGCAAGACTGGCCATCAATTACGACCCTTTGGAGAAGGCAGATGAAACTCAAGCTAGAAAACGACTTTCTCCTGATCAGATG
AAACACTCACCTAATTTAAGTTTTGAGCCTAACTTCTGCCAGGATAACCCTCGAAGTCCCACCAGCTCTAAAGAAAGCCCCCAGGAGGCAAAAAGGCCACAGTAT
TGTTCTGAAACCCAGTCCAAAAAAGTATTTTTAAATAAGGCTGCCGACTTCATTGAAGAGCTATCCTCCCTTTTCAAATCCCACAGCTCCAAAAGGATTAGACCT
CGTGCCTGCAAAAACCACAAGAGTAAACTGGAATCTCAAAACAAAGTTATGCAGGAAAACAGCTCCAGTTTCTCAGATCTGTCAGAAAGACGAGAAAGATCTTCT
GTTCCCATCCCTATCCCTGCGGATACCAGGGATAATGAAGTGAATCACGCCCTGGAACAGCAGGAAGCCAAGAGGCGTGAAGCGGAGCAGGCTGCCAGTGAGGCG
GCTGGTGGAGACACTACACCAGGGTCTTCCCCTTCATCTCTGTACTATGAAGAACCTCTGGGGCAACCTCCCCGGTTCACTCAAAAGTTACGGAGCAGAGAAGTT
CCAGAAGGAACTCGAGTACAGTTGGATTGCATAGTGGTAGGAATTCCACCACCTCAAGTAAGGTGGTACTGTGAAGGCAAGGAGCTTGAAAATTCCCCAGATATT
CACATCGTCCAGGCAGGAAATCTGCACTCACTGACCATTGCGGAAGCCTTTGAAGAGGACACAGGACGCTATTCCTGCTTTGCTTCTAACATCTATGGGACAGAT
TCGACTTCTGCTGAGATTTATATAGAAGGGGTTTCTTCTTCTGACTCAGAAGGCGACCCTAACAAGGAAGAGATGAATCGAATCCAGAAGCCAAATGAGGTGTCA
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>MYPN|84665|protein
MQDDSIEASTSISQLLRESYLAETRHRGNNERSRAEPSSNPCHFGSPSGAAEGGGGQDDLPDLSAFLSQEELDESVNLARLAINYDPLEKADETQARKRLSPDQM
KHSPNLSFEPNFCQDNPRSPTSSKESPQEAKRPQYCSETQSKKVFLNKAADFIEELSSLFKSHSSKRIRPRACKNHKSKLESQNKVMQENSSSFSDLSERRERSS
VPIPIPADTRDNEVNHALEQQEAKRREAEQAASEAAGGDTTPGSSPSSLYYEEPLGQPPRFTQKLRSREVPEGTRVQLDCIVVGIPPPQVRWYCEGKELENSPDI
HIVQAGNLHSLTIAEAFEEDTGRYSCFASNIYGTDSTSAEIYIEGVSSSDSEGDPNKEEMNRIQKPNEVSSPPTTSAVIPPAVPQAQHLVAQPRVATIQQCQSPT
NYLQGLDGKPIIAAPVFTKMLQNLSASEGQLVVFECRVKGAPSPKVEWYREGTLIEDSPDFRILQKKPRSMAEPEEICTLVIAEVFAEDSGCFTCTASNKYGTVS
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Tammimies K, 2015 Canada life Ion ProtonASD 100 - - 95 -
Low Scale Gene Studies Top

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Simple Query:


  (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