AutismKB 2.0

Evidence Details for MAD1L1


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Basic Information Top
Gene Symbol:MAD1L1 ( MAD1,PIG9,TP53I9,TXBP181 )
Gene Full Name: MAD1 mitotic arrest deficient-like 1 (yeast)
Band: 7p22.3
Quick LinksEntrez ID:8379; OMIM: 602686; Uniprot ID:MD1L1_HUMAN; ENSEMBL ID: ENSG00000002822; HGNC ID: 6762
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAD1L1|8379|nucleotide
ATGGAAGACCTGGGGGAAAACACCATGGTTTTATCCACCCTGAGATCTTTGAACAACTTCATCTCTCAGCGTGTGGAGGGAGGCTCTGGACTGGATATTTCTACC
TCGGCCCCAGGTTCTCTGCAGATGCAGTACCAGCAGAGCATGCAGCTGGAGGAAAGAGCAGAGCAGATCCGTTCGAAGTCCCACCTCATCCAGGTGGAGCGGGAG
AAAATGCAGATGGAGCTGAGTCACAAGAGGGCTCGAGTGGAGCTGGAGAGAGCAGCCAGCACCAGTGCCAGGAACTACGAGCGTGAGGTCGACCGCAACCAGGAG
CTCCTGACGCGCATCCGGCAGCTTCAGGAGCGGGAGGCCGGGGCGGAGGAGAAGATGCAGGAGCAGCTGGAGCGCAACAGGCAGTGTCAGCAGAACTTGGATGCT
GCCAGCAAGAGGCTGCGTGAGAAAGAGGACAGTCTGGCCCAGGCTGGCGAGACCATCAACGCACTGAAGGGGAGGATCTCGGAACTGCAGTGGAGCGTGATGGAC
CAGGAGATGCGGGTGAAGCGCCTGGAGTCGGAGAAGCAGGAGCTGCAGGAGCAGCTGGACCTGCAACACAAAAAATGCCAGGAAGCCAATCAGAAAATCCAGGAA
CTCCAGGCCAGCCAAGAAGCAAGAGCAGACCACGAGCAGCAGATTAAGGATCTGGAGCAGAAGCTGTCCCTGCAAGAGCAGGATGCAGCGATTGTGAAGAACATG
AAGTCTGAGCTGGTACGGCTCCCTAGGCTGGAACGGGAGCTGAAGCAGCTGCGGGAGGAGAGCGCGCACCTGCGGGAGATGAGAGAGACCAACGGGCTGCTCCAG
GAAGAGCTGGAAGGGCTGCAGAGGAAGCTGGGGCGCCAGGAGAAGATGCAGGAGACGCTGGTTGGCTTGGAGCTGGAGAACGAGAGGCTGCTGGCCAAGCTGCAA
AGCTGGGAGAGACTGGACCAGACCATGGGCCTGAGCATCAGGACTCCAGAAGACCTTTCCAGATTCGTGGTTGAGCTGCAGCAGAGGGAGCTTGCCTTGAAGGAC
AAGAACAGCGCCGTCACCAGCAGCGCCCGGGGGCTGGAGAAGGCCAGGCAGCAGCTGCAGGAGGAGCTCCGGCAGGTCAGCGGCCAGCTGTTGGAGGAGAGGAAG
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>MAD1L1|8379|protein
MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLIQVEREKMQMELSHKRARVELERAASTSARNYEREVDRNQE
LLTRIRQLQEREAGAEEKMQEQLERNRQCQQNLDAASKRLREKEDSLAQAGETINALKGRISELQWSVMDQEMRVKRLESEKQELQEQLDLQHKKCQEANQKIQE
LQASQEARADHEQQIKDLEQKLSLQEQDAAIVKNMKSELVRLPRLERELKQLREESAHLREMRETNGLLQEELEGLQRKLGRQEKMQETLVGLELENERLLAKLQ
SWERLDQTMGLSIRTPEDLSRFVVELQQRELALKDKNSAVTSSARGLEKARQQLQEELRQVSGQLLEERKKRETHEALARRLQKRVLLLTKERDGMRAILGSYDS
ELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQKQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQ
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top