AutismKB 2.0

Evidence Details for MAD2L1


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Basic Information Top
Gene Symbol:MAD2L1 ( HSMAD2,MAD2 )
Gene Full Name: MAD2 mitotic arrest deficient-like 1 (yeast)
Band: 4q27
Quick LinksEntrez ID:4085; OMIM: 601467; Uniprot ID:MD2L1_HUMAN; ENSEMBL ID: ENSG00000164109; HGNC ID: 6763
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAD2L1|4085|nucleotide
ATGGCGCTGCAGCTCTCCCGGGAGCAGGGAATCACCCTGCGCGGGAGCGCCGAAATCGTGGCCGAGTTCTTCTCATTCGGCATCAACAGCATTTTATATCAGCGT
GGCATATATCCATCTGAAACCTTTACTCGAGTGCAGAAATACGGACTCACCTTGCTTGTAACTACTGATCTTGAGCTCATAAAATACCTAAATAATGTGGTGGAA
CAACTGAAAGATTGGTTATACAAGTGTTCAGTTCAGAAACTGGTTGTAGTTATCTCAAATATTGAAAGTGGTGAGGTCCTGGAAAGATGGCAGTTTGATATTGAG
TGTGACAAGACTGCAAAAGATGACAGTGCACCCAGAGAAAAGTCTCAGAAAGCTATCCAGGATGAAATCCGTTCAGTGATCAGACAGATCACAGCTACGGTGACA
TTTCTGCCACTGTTGGAAGTTTCTTGTTCATTTGATCTGCTGATTTATACAGACAAAGATTTGGTTGTACCTGAAAAATGGGAAGAGTCGGGACCACAGTTTATT
ACCAATTCTGAGGAAGTCCGCCTTCGTTCATTTACTACTACAATCCACAAAGTAAATAGCATGGTGGCCTACAAAATTCCTGTCAATGACTGA





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>MAD2L1|4085|protein
MALQLSREQGITLRGSAEIVAEFFSFGINSILYQRGIYPSETFTRVQKYGLTLLVTTDLELIKYLNNVVEQLKDWLYKCSVQKLVVVISNIESGEVLERWQFDIE
CDKTAKDDSAPREKSQKAIQDEIRSVIRQITATVTFLPLLEVSCSFDLLIYTDKDLVVPEKWEESGPQFITNSEEVRLRSFTTTIHKVNSMVAYKIPVND



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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