AutismKB 2.0

Evidence Details for MLL3


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Basic Information Top
Gene Symbol:MLL3 ( DKFZp686C08112,FLJ12625,FLJ38309,HALR,KIAA1506,KMT2C,MGC119851,MGC119852,MGC119853 )
Gene Full Name: myeloid/lymphoid or mixed-lineage leukemia 3
Band: 7q36.1
Quick LinksEntrez ID:58508; OMIM: 606833; Uniprot ID:MLL3_HUMAN; ENSEMBL ID: ENSG00000055609; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MLL3|58508|nucleotide
ATGTCGTCGGAGGAGGACAAGAGCGTGGAGCAGCCGCAGCCGCCGCCACCACCCCCCGAGGAGCCTGGAGCCCCGGCCCCGAGCCCCGCAGCCGCAGACAAAAGA
CCTCGGGGCCGGCCTCGCAAAGATGGCGCTTCCCCTTTCCAGAGAGCCAGAAAGAAACCTCGAAGTAGGGGGAAAACTGCAGTGGAAGATGAGGACAGCATGGAT
GGGCTGGAGACAACAGAAACAGAAACGATTGTGGAAACAGAAATCAAAGAACAATCTGCAGAAGAGGATGCTGAAGCAGAAGTGGATAACAGCAAACAGCTAATT
CCAACTCTTCAGCGATCTGTGTCTGAGGAATCGGCAAACTCCCTGGTCTCTGTTGGTGTAGAAGCCAAAATCAGTGAACAGCTCTGCGCTTTTTGTTACTGTGGG
GAAAAAAGTTCCTTAGGACAAGGAGACTTAAAACAATTCAGAATAACGCCTGGATTTATCTTGCCATGGAGAAACCAACCTTCTAACAAGAAGGACATTGATGAC
AACAGCAATGGAACCTATGAGAAAATGCAAAACTCAGCACCACGAAAACAAAGAGGACAGAGAAAAGAACGATCTCCTCAGCAGAATATAGTATCTTGTGTAAGT
GTAAGCACCCAGACAGCTTCAGATGATCAAGCTGGTAAACTGTGGGATGAACTCAGTCTGGTTGGGCTTCCAGATGCCATTGATATCCAAGCCTTATTTGATTCT
ACAGGCACTTGTTGGGCTCATCACCGTTGTGTGGAGTGGTCACTAGGAGTATGCCAGATGGAAGAACCATTGTTAGTGAACGTGGACAAAGCTGTTGTCTCAGGG
AGCACAGAACGATGTGCATTTTGTAAGCACCTTGGAGCCACTATCAAATGCTGTGAAGAGAAATGTACCCAGATGTATCATTATCCTTGTGCTGCAGGAGCCGGC
ACCTTTCAGGATTTCAGTCACATCTTCCTGCTTTGTCCAGAACACATTGACCAAGCTCCTGAAAGATCGAAGGAAGATGCAAACTGTGCAGTGTGCGACAGCCCG
GGAGACCTCTTAGATCAGTTCTTTTGTACTACTTGTGGTCAGCACTATCATGGAATGTGCCTGGATATAGCGGTTACTCCATTAAAACGTGCAGGTTGGCAATGT
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>MLL3|58508|protein
MSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIKEQSAEEDAEAEVDNSKQLI
PTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDNSNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVS
VSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQMEEPLLVNVDKAVVSGSTERCAFCKHLGATIKCCEEKCTQMYHYPCAAGAG
TFQDFSHIFLLCPEHIDQAPERSKEDANCAVCDSPGDLLDQFFCTTCGQHYHGMCLDIAVTPLKRAGWQCPECKVCQNCKQSGEDSKMLVCDTCDKGYHTFCLQP
VMKSVPTNGWKCKNCRICIECGTRSSSQWHHNCLICDNCYQQQDNLCPFCGKCYHPELQKDMLHCNMCKRWVHLECDKPTDHELDTQLKEEYICMYCKHLGAEMD
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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 (2) 1 (2) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (6)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top