AutismKB 2.0

Evidence Details for MAP3K10


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Basic Information Top
Gene Symbol:MAP3K10 ( MEKK10,MLK2,MST )
Gene Full Name: mitogen-activated protein kinase kinase kinase 10
Band: 19q13.2
Quick LinksEntrez ID:4294; OMIM: 600137; Uniprot ID:M3K10_HUMAN; ENSEMBL ID: ENSG00000130758; HGNC ID: 6849
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAP3K10|4294|nucleotide
ATGGAGGAGGAGGAGGGGGCGGTGGCCAAGGAGTGGGGCACGACCCCCGCGGGGCCCGTCTGGACCGCGGTGTTCGACTACGAGGCGGCGGGCGACGAGGAGCTG
ACCCTGCGGAGGGGCGATCGCGTCCAGGTGCTTTCCCAAGACTGTGCGGTGTCCGGCGACGAGGGCTGGTGGACCGGGCAGCTCCCCAGCGGCCGCGTGGGCGTC
TTCCCCAGCAACTACGTGGCCCCCGGCGCCCCCGCTGCACCCGCGGGCCTCCAGCTGCCCCAGGAGATCCCCTTCCACGAGCTGCAGCTAGAGGAGATCATCGGT
GTGGGGGGCTTTGGCAAGGTCTATCGGGCCCTGTGGCGTGGCGAGGAGGTGGCAGTCAAGGCCGCCCGGCTGGACCCTGAGAAGGACCCGGCAGTGACAGCGGAG
CAGGTGTGCCAGGAAGCCCGGCTCTTTGGAGCCCTGCAGCACCCCAACATAATTGCCCTTAGGGGCGCCTGCCTCAACCCCCCACACCTCTGCCTAGTGATGGAG
TATGCCCGGGGTGGTGCACTGAGCAGGGTGCTGGCAGGTCGCCGGGTGCCACCTCACGTGCTGGTCAACTGGGCTGTGCAGGTGGCCCGGGGCATGAACTACCTA
CACAATGATGCCCCTGTGCCCATCATCCACCGGGACCTCAAGTCCATCAACATCCTGATCCTGGAGGCCATCGAGAACCACAACCTCGCAGACACGGTGCTCAAG
ATCACGGACTTCGGCCTCGCCCGCGAGTGGCACAAGACCACCAAGATGAGCGCTGCGGGGACCTACGCCTGGATGGCGCCGGAGGTTATCCGTCTCTCCCTCTTC
TCCAAAAGCAGTGATGTCTGGAGCTTCGGGGTGCTGCTGTGGGAGCTGCTGACGGGGGAGGTCCCCTACCGTGAGATCGACGCCTTGGCCGTGGCGTATGGCGTG
GCTATGAATAAGCTGACGCTGCCCATTCCCTCCACGTGCCCCGAGCCCTTTGCCCGCCTCCTGGAGGAATGCTGGGACCCAGACCCCCACGGGCGGCCAGATTTC
GGTAGCATCTTGAAGCGGCTTGAAGTCATCGAACAGTCAGCCCTGTTCCAGATGCCACTGGAGTCCTTCCACTCGCTGCAGGAAGACTGGAAGCTGGAGATTCAG
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>MAP3K10|4294|protein
MEEEEGAVAKEWGTTPAGPVWTAVFDYEAAGDEELTLRRGDRVQVLSQDCAVSGDEGWWTGQLPSGRVGVFPSNYVAPGAPAAPAGLQLPQEIPFHELQLEEIIG
VGGFGKVYRALWRGEEVAVKAARLDPEKDPAVTAEQVCQEARLFGALQHPNIIALRGACLNPPHLCLVMEYARGGALSRVLAGRRVPPHVLVNWAVQVARGMNYL
HNDAPVPIIHRDLKSINILILEAIENHNLADTVLKITDFGLAREWHKTTKMSAAGTYAWMAPEVIRLSLFSKSSDVWSFGVLLWELLTGEVPYREIDALAVAYGV
AMNKLTLPIPSTCPEPFARLLEECWDPDPHGRPDFGSILKRLEVIEQSALFQMPLESFHSLQEDWKLEIQHMFDDLRTKEKELRSREEELLRAAQEQRFQEEQLR
RREQELAEREMDIVERELHLLMCQLSQEKPRVRKRKGNFKRSRLLKLREGGSHISLPSGFEHKITVQASPTLDKRKGSDGASPPASPSIIPRLRAIRLTPVDCGG
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (2)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
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
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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