Evidence Details for MLL2

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Basic Information Top

Gene Symbol:	MLL2 ( AAD10,ALR,CAGL114,KMT2B,KMT2D,MLL4,TNRC21 )
Gene Full Name:	myeloid/lymphoid or mixed-lineage leukemia 2
Band:	12q12-q14
Quick Links	Entrez ID:8085; OMIM: 602113; Uniprot ID:MLL2_HUMAN; ENSEMBL ID: ENSG00000167548; HGNC ID:
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>MLL2|8085|nucleotide
ATGGACAGCCAGAAGCTGGCTGGTGAGGATAAAGATTCAGAACCGGCAGCTGATGGACCTGCAGCTTCTGAGGACCCAAGTGCCACTGAGTCAGACCTGCCCAAC
CCACATGTGGGAGAGGTCTCTGTCCTTAGTTCTGGGAGTCCCAGGCTTCAGGAGACTCCTCAGGACTGCAGTGGGGGTCCGGTGCGGCGTTGTGCTCTCTGTAAC
TGCGGGGAGCCCAGTCTACACGGGCAGCGGGAGCTACGGCGCTTTGAGTTGCCATTTGATTGGCCCCGGTGTCCAGTGGTGTCCCCTGGGGGGAGCCCAGGGCCC
AATGAGGCAGTGCTGCCCAGTGAGGACCTATCACAGATTGGTTTCCCTGAGGGCCTTACACCTGCCCACCTAGGAGAACCTGGAGGGTCCTGCTGGGCTCACCAT
TGGTGTGCTGCATGGTCGGCAGGCGTATGGGGGCAGGAGGGCCCAGAACTATGTGGTGTGGACAAGGCCATCTTCTCAGGGATCTCACAGCGCTGCTCCCACTGC
ACCAGGCTCGGTGCCTCCATCCCTTGCCGCTCACCTGGATGTCCACGGCTTTACCACTTCCCCTGCGCGACTGCCAGCGGTTCCTTCCTATCCATGAAAACACTG
CAGCTGCTATGCCCAGAGCACAGTGAGGGGGCTGCATATCTGGAGGAGGCTCGCTGTGCAGTGTGTGAGGGGCCAGGGGAGTTGTGTGACCTGTTCTTCTGTACC
AGCTGTGGGCATCACTATCACGGGGCCTGCCTGGACACTGCTCTGACTGCCCGCAAACGTGCTGGCTGGCAGTGCCCTGAATGCAAAGTGTGCCAAGCCTGCAGG
AAACCTGGGAATGACTCTAAGATGTTGGTTTGTGAGACGTGTGACAAAGGATACCATACTTTCTGCCTAAAACCACCCATGGAGGAACTGCCTGCTCACTCTTGG
AAGTGCAAGGCGTGCCGGGTGTGCCGGGCCTGTGGGGCGGGCTCAGCAGAACTGAATCCCAACTCGGAGTGGTTTGAGAACTACTCTCTCTGTCACCGCTGTCAC
AAAGCCCAGGGAGGTCAGACTATCCGCTCCGTTGCTGAGCAGCATACCCCGGTGTGTAGCAGATTTTCACCCCCAGAGCCTGGCGATACCCCCACTGACGAGCCC
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>MLL2|8085|protein
MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCNCGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGP
NEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHHWCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTL
QLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACRKPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSW
KCKACRVCRACGAGSAELNPNSEWFENYSLCHRCHKAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLG
KAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLEESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEE
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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 (0)	0 (2)	0 (0)	0 (0)	0 (3)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	Platform	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Szatmari, 2007	Europe, North America	SNP microarray			ASD	1491	-	-	-	-	-	0

Linkage Studies Top

AutismKB 2.0

Evidence Details for MLL2