AutismKB 2.0

Evidence Details for MAST2


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Basic Information Top
Gene Symbol:MAST2 ( FLJ39200,KIAA0807,MAST205,MTSSK,RP4-533D7.1 )
Gene Full Name: microtubule associated serine/threonine kinase 2
Band: 1p34.1
Quick LinksEntrez ID:23139; OMIM: 612257; Uniprot ID:MAST2_HUMAN; ENSEMBL ID: ENSG00000086015; HGNC ID: 19035
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAST2|23139|nucleotide
ATGAAGCGGAGCCGCTGCCGCGACCGACCGCAGCCGCCGCCGCCCGACCGCCGGGAGGATGGAGTTCAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGCCGCGC
CGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGGATGTAGTAACTGGAGTTAGTCCCCTGCTCTTC
AGGAAACTCAGTAATCCTGACATATTTTCATCCACTGGAAAAGTTAAACTTCAGCGACAACTGAGTCAGGATGATTGTAAGTTATGGAGAGGAAACCTGGCCAGC
TCTCTATCGGGTAAGCAGCTGCTCCCTTTGTCCAGCAGTGTACATAGCAGTGTGGGACAGGTGACTTGGCAGTCGTCAGGAGAAGCATCAAACCTGGTTCGAATG
AGAAACCAGTCCCTTGGACAGTCTGCACCTTCTCTTACTGCTGGCCTGAAGGAGTTGAGCCTTCCAAGAAGAGGCAGCTTTTGTCGGACAAGTAACCGCAAGAGC
TTGATTGTGACCTCTAGCACATCACCTACACTACCACGGCCACACTCACCACTCCATGGCCACACAGGTAACAGTCCTTTGGACAGCCCCCGGAATTTCTCTCCA
AATGCACCTGCTCACTTTTCTTTTGTTCCTGCCCGTAGGACTGATGGGCGGCGCTGGTCTTTGGCCTCTTTGCCCTCTTCAGGATATGGAACTAACACTCCTAGC
TCCACTGTCTCATCATCATGCTCCTCACAGGAAAAGCTGCATCAGTTGCCTTTCCAGCCTACAGCTGATGAGCTGCACTTTTTGACGAAGCATTTCAGCACAGAG
AGCGTACCAGATGAGGAAGGACGGCAGTCCCCAGCCATGCGGCCTCGCTCCCGGAGCCTCAGTCCCGGACGATCCCCAGTATCCTTTGACAGTGAAATAATAATG
ATGAATCATGTTTACAAAGAAAGATTCCCAAAGGCCACCGCACAAATGGAAGAGCGACTAGCAGAGTTTATTTCCTCCAACACTCCAGACAGCGTGCTGCCCTTG
GCAGATGGAGCCCTGAGCTTTATTCATCATCAGGTGATTGAGATGGCCCGAGACTGCCTGGATAAATCTCGGAGTGGCCTCATTACATCACAATACTTCTACGAA
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>MAST2|23139|protein
MKRSRCRDRPQPPPPDRREDGVQRAAELSQSLPPRRRAPPGRQRLEERTGPAGPEGKEQDVVTGVSPLLFRKLSNPDIFSSTGKVKLQRQLSQDDCKLWRGNLAS
SLSGKQLLPLSSSVHSSVGQVTWQSSGEASNLVRMRNQSLGQSAPSLTAGLKELSLPRRGSFCRTSNRKSLIVTSSTSPTLPRPHSPLHGHTGNSPLDSPRNFSP
NAPAHFSFVPARRTDGRRWSLASLPSSGYGTNTPSSTVSSSCSSQEKLHQLPFQPTADELHFLTKHFSTESVPDEEGRQSPAMRPRSRSLSPGRSPVSFDSEIIM
MNHVYKERFPKATAQMEERLAEFISSNTPDSVLPLADGALSFIHHQVIEMARDCLDKSRSGLITSQYFYELQDNLEKLLQDAHERSESSEVAFVMQLVKKLMIII
ARPARLLECLEFDPEEFYHLLEAAEGHAKEGQGIKCDIPRYIVSQLGLTRDPLEEMAQLSSCDSPDTPETDDSIEGHGASLPSKKTPSEEDFETIKLISNGAYGA
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top