AutismKB 2.0

Evidence Details for MUS81


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Basic Information Top
Gene Symbol:MUS81 ( FLJ21012,FLJ44872,SLX3 )
Gene Full Name: MUS81 endonuclease homolog (S. cerevisiae)
Band: 11q13
Quick LinksEntrez ID:80198; OMIM: 606591; Uniprot ID:MUS81_HUMAN; ENSEMBL ID: ENSG00000172732; HGNC ID: 29814
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MUS81|80198|nucleotide
ATGGCGGCCCCGGTCCGCCTGGGCCGGAAGCGCCCGCTGCCTGCCTGTCCCAACCCGCTCTTCGTTCGCTGGCTGACCGAGTGGCGGGACGAGGCGACCCGCAGC
AGGCGCCGCACGCGCTTCGTATTTCAGAAGGCGCTGCGTTCCCTCCGACGGTACCCACTGCCGCTGCGCAGCGGGAAGGAAGCTAAGATCCTACAGCACTTCGGA
GACGGGCTCTGCCGGATGCTGGACGAGCGGCTGCAGCGGCACCGAACATCGGGCGGTGACCATGCCCCGGACTCACCATCTGGAGAGAACAGTCCAGCCCCGCAG
GGGCGACTTGCGGAAGTCCAGGACTCTTCCATGCCAGTTCCTGCCCAGCCCAAAGCGGGAGGCTCTGGCAGCTACTGGCCAGCTCGGCACTCAGGAGCCCGAGTG
ATACTGCTGGTGCTCTACCGGGAGCACCTGAATCCTAATGGTCACCACTTCTTAACCAAGGAGGAGCTGCTGCAGAGGTGTGCTCAGAAGTCCCCCAGGGTAGCC
CCTGGGAGTGCTCGACCCTGGCCAGCCCTCCGCTCCCTCCTTCACAGGAACCTGGTCCTCAGGACACACCAGCCAGCCAGGTACTCATTGACCCCAGAGGGCCTG
GAGCTGGCCCAGAAGTTGGCCGAGTCAGAAGGCCTGAGCTTGCTGAATGTGGGCATCGGGCCCAAGGAGCCCCCTGGGGAGGAGACAGCAGTGCCAGGAGCAGCT
TCAGCAGAGCTTGCCAGTGAAGCAGGGGTCCAGCAGCAGCCACTGGAGCTGAGGCCTGGAGAGTACAGGGTGCTGTTGTGTGTGGACATTGGCGAGACCCGGGGG
GGCGGGCACAGGCCGGAGCTGCTCCGAGAGCTACAGCGGCTGCACGTGACCCACACGGTGCGCAAGCTGCACGTTGGAGATTTTGTGTGGGTGGCCCAGGAGACC
AATCCTAGAGACCCAGCAAACCCTGGGGAGTTGGTACTGGATCACATTGTGGAGCGCAAGCGACTGGATGACCTTTGCAGCAGCATCATCGACGGCCGCTTCCGG
GAGCAGAAGTTCCGGCTGAAGCGCTGTGGTCTGGAGCGCCGGGTATACCTGGTGGAAGAGCATGGTTCCGTCCACAACCTCAGCCTTCCTGAGAGCACACTGCTG
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>MUS81|80198|protein
MAAPVRLGRKRPLPACPNPLFVRWLTEWRDEATRSRRRTRFVFQKALRSLRRYPLPLRSGKEAKILQHFGDGLCRMLDERLQRHRTSGGDHAPDSPSGENSPAPQ
GRLAEVQDSSMPVPAQPKAGGSGSYWPARHSGARVILLVLYREHLNPNGHHFLTKEELLQRCAQKSPRVAPGSARPWPALRSLLHRNLVLRTHQPARYSLTPEGL
ELAQKLAESEGLSLLNVGIGPKEPPGEETAVPGAASAELASEAGVQQQPLELRPGEYRVLLCVDIGETRGGGHRPELLRELQRLHVTHTVRKLHVGDFVWVAQET
NPRDPANPGELVLDHIVERKRLDDLCSSIIDGRFREQKFRLKRCGLERRVYLVEEHGSVHNLSLPESTLLQAVTNTQVIDGFFVKRTADIKESAAYLALLTRGLQ
RLYQGHTLRSRPWGTPGNPESGAMTSPNPLCSLLTFSDFNAGAIKNKAQSVREVFARQLMQVRGVSGEKAAALVDRYSTPASLLAAYDACATPKEQETLLSTIKC
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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 (1) 0 (0) 0 (0) 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
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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