AutismKB 2.0

Evidence Details for MLL


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Basic Information Top
Gene Symbol:MLL ( ALL-1,CXXC7,FLJ11783,HRX,HTRX1,KMT2A,MLL/GAS7,MLL1A,TET1-MLL,TRX1 )
Gene Full Name: myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
Band: 11q23
Quick LinksEntrez ID:4297; OMIM: 159555; Uniprot ID:MLL1_HUMAN; ENSEMBL ID: ENSG00000118058; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MLL|4297|nucleotide
ATGGCGCACAGCTGTCGGTGGCGCTTCCCCGCCCGACCCGGGACCACCGGGGGCGGCGGCGGCGGGGGGCGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTC
CCGGCCCTGCTGCTTCCCCCCGGGCCCCCGGTCGGCGGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCTGTGGCGGCCGCGGCGGCGGCGGCGGGAAGCAGC
GGGGCTGGGGTTCCAGGGGGAGCGGCCGCCGCCTCAGCAGCCTCCTCGTCGTCCGCCTCGTCTTCGTCTTCGTCATCGTCCTCAGCCTCTTCAGGGCCGGCCCTG
CTCCGGGTGGGCCCGGGCTTCGACGCGGCGCTGCAGGTCTCGGCCGCCATCGGCACCAACCTGCGCCGGTTCCGGGCCGTGTTTGGGGAGAGCGGCGGGGGAGGC
GGCAGCGGAGAGGATGAGCAATTCTTAGGTTTTGGCTCAGATGAAGAAGTCAGAGTGCGAAGTCCCACAAGGTCTCCTTCAGTTAAAACTAGTCCTCGAAAACCT
CGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATC
AAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCA
AAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCT
CTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCT
TCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAA
AGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAG
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>MLL|4297|protein
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSASSSSSSSSSASSGPAL
LRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPRSGSDRNSAILSDPSVFSPLNKSETKSGDKI
KKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKIKKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTP
SGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRIIPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSR
IIKTPRRFIEDEDYDPPIKIARLESTPNSRFSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESND
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (3) 0 (0) 0 (0) 0 (0) 0 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top