AutismKB 2.0

Evidence Details for MAML2


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Basic Information Top
Gene Symbol:MAML2 ( DKFZp686N0150,KIAA1819,MAM-3,MAM2,MAM3,MGC176701,MLL-MAML2 )
Gene Full Name: mastermind-like 2 (Drosophila)
Band: 11q21
Quick LinksEntrez ID:84441; OMIM: 607537; Uniprot ID:MAML2_HUMAN; ENSEMBL ID: ENSG00000184384; HGNC ID: 16259
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAML2|84441|nucleotide
ATGGGGGACACAGCGCCCCCGCAGGCCCCCGCAGGAGGGCTAGGGGGGGCCTCTGGGGCGGGGCTCCTTGGAGGGGGCTCAGTCACCCCGAGAGTGCACAGTGCT
ATCGTGGAGCGCCTCCGGGCTCGGATCGCTGTCTGCCGCCAACACCACCTGAGCTGTGAAGGACGATATGAACGAGGTAGGGCCGAGAGCTCAGACCGGGAAAGA
GAAAGCACCTTGCAGCTCCTGAGCCTTGTACAGCATGGCCAGGGGGCAAGGAAAGCTGGCAAACACACCAAGGCCACCGCCACTGCTGCCACCACTACAGCCCCT
CCACCGCCCCCTGCTGCCCCTCCTGCGGCCTCCCAAGCAGCAGCAACAGCAGCCCCACCGCCCCCACCAGACTATCACCATCACCACCAGCAGCACCTGCTGAAC
AGTAGCAATAATGGTGGCAGTGGTGGGATAAACGGAGAGCAGCAGCCGCCCGCTTCAACCCCAGGGGACCAGAGGAACTCAGCCCTGATTGCGCTCCAGGGTTCC
TTGAAAAGAAAACAGGTAGTTAACCTATCTCCTGCCAACAGCAAGCGACCCAATGGCTTTGTGGACAACTCATTTCTTGATATCAAAAGAATTCGTGTTGGGGAG
AATCTCTCTGCAGGACAAGGTGGCCTCCAAATAAACAATGGACAAAGTCAGATTATGTCAGGGACCTTGCCTATGAGCCAAGCACCCCTGCGAAAGACTAACACT
CTGCCATCCCATACACATTCTCCTGGCAATGGCCTGTTTAACATGGGCTTAAAGGAGGTAAAGAAGGAGCCAGGAGAGACTCTGTCTTGCAGTAAGCACATGGAT
GGCCAAATGACCCAAGAGAATATTTTTCCTAATAGGTACGGAGACGACCCTGGAGAACAACTGATGGATCCTGAGCTGCAGGAACTGTTCAATGAACTGACCAAC
ATATCTGTGCCTCCCATGAGTGACCTTGAACTGGAGAACATGATCAATGCCACCATAAAGCAGGATGACCCATTTAACATTGACTTGGGTCAGCAAAGCCAGAGG
AGCACACCTAGGCCCTCCTTACCCATGGAGAAAATAGTGATCAAAAGTGAATACTCACCGGGCTTGACTCAGGGCCCCTCAGGCTCTCCTCAGCTGAGGCCCCCA
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>MAML2|84441|protein
MGDTAPPQAPAGGLGGASGAGLLGGGSVTPRVHSAIVERLRARIAVCRQHHLSCEGRYERGRAESSDRERESTLQLLSLVQHGQGARKAGKHTKATATAATTTAP
PPPPAAPPAASQAAATAAPPPPPDYHHHHQQHLLNSSNNGGSGGINGEQQPPASTPGDQRNSALIALQGSLKRKQVVNLSPANSKRPNGFVDNSFLDIKRIRVGE
NLSAGQGGLQINNGQSQIMSGTLPMSQAPLRKTNTLPSHTHSPGNGLFNMGLKEVKKEPGETLSCSKHMDGQMTQENIFPNRYGDDPGEQLMDPELQELFNELTN
ISVPPMSDLELENMINATIKQDDPFNIDLGQQSQRSTPRPSLPMEKIVIKSEYSPGLTQGPSGSPQLRPPSAGPAFSMANSALSTSSPIPSVPQSQAQPQTGSGA
SRALPSWQEVSHAQQLKQIAANRQQHARMQQHQQQHQPTNWSALPSSAGPSPGPFGQEKIPSPSFGQQTFSPQSSPMPGVAGGSGQSKVMANYMYKAGPSAQGGH
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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 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top