AutismKB 2.0

Evidence Details for MEF2A


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Basic Information Top
Gene Symbol:MEF2A ( ADCAD1,RSRFC4,RSRFC9 )
Gene Full Name: myocyte enhancer factor 2A
Band: 15q26.3
Quick LinksEntrez ID:4205; OMIM: 600660; Uniprot ID:MEF2A_HUMAN; ENSEMBL ID: ENSG00000068305; HGNC ID: 6993
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MEF2A|4205|nucleotide
ATGGGGCGGAAGAAAATACAAATCACACGCATAATGGATGAAAGGAACCGACAGGTCACTTTTACAAAGAGAAAGTTTGGATTAATGAAGAAAGCCTATGAACTT
AGTGTGCTCTGTGACTGTGAAATAGCACTCATCATTTTCAACAGCTCTAACAAACTGTTTCAATATGCTAGCACTGATATGGACAAAGTTCTTCTCAAGTATACA
GAATATAATGAACCTCATGAAAGCAGAACCAACTCGGATATTGTTGAGACTTTAAGAAAGAAAGGCCTTAATGGTTGTGAGAGCCCTGATGCTGACGATTACTTT
GAGCACAGTCCACTCTCGGAGGACAGATTCAGCAAACTAAATGAAGATAGTGATTTTATTTTCAAACGAGGCCCTCCTGGTCTGCCACCTCAGAACTTTTCAATG
TCTGTCACAGTTCCAGTGACCAGCCCCAATGCTTTGTCCTACACTAACCCAGGGAGTTCACTGGTGTCCCCATCTTTGGCAGCCAGCTCAACGTTAACAGATTCA
AGCATGCTCTCTCCACCTCAAACCACATTACATAGAAATGTGTCTCCTGGAGCTCCTCAGAGACCACCAAGTACTGGCAATGCAGGTGGGATGTTGAGCACTACA
GACCTCACAGTGCCAAATGGAGCTGGAAGCAGTCCAGTGGGGAATGGATTTGTAAACTCAAGAGCTTCTCCAAATTTGATTGGAGCTACTGGTGCAAATAGCTTA
GGCAAAGTCATGCCTACAAAGTCTCCCCCTCCACCAGGTGGTGGTAATCTTGGAATGAACAGTAGGAAACCAGATCTTCGAGTTGTCATCCCCCCTTCAAGCAAG
GGCATGATGCCTCCACTAAATACCCAAAGGATCAGTAGTTCTCAAGCCACTCAACCTCTTGCTACCCCAGTCGTGTCTGTGACAACCCCAAGCTTGCCTCCGCAA
GGACTTGTGTACTCAGCAATGCCGACTGCCTACAACACTGATTATTCACTGACCAGCGCTGACCTGTCAGCCCTTCAAGGCTTCAACTCGCCAGGAATGCTGTCG
CTGGGACAGGTGTCGGCCTGGCAGCAGCACCACCTAGGACAAGCAGCCCTCAGCTCTCTTGTTGCTGGAGGGCAGTTATCTCAGGGTTCCAATTTATCCATTAAT
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>MEF2A|4205|protein
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSSNKLFQYASTDMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCESPDADDYF
EHSPLSEDRFSKLNEDSDFIFKRGPPGLPPQNFSMSVTVPVTSPNALSYTNPGSSLVSPSLAASSTLTDSSMLSPPQTTLHRNVSPGAPQRPPSTGNAGGMLSTT
DLTVPNGAGSSPVGNGFVNSRASPNLIGATGANSLGKVMPTKSPPPPGGGNLGMNSRKPDLRVVIPPSSKGMMPPLNTQRISSSQATQPLATPVVSVTTPSLPPQ
GLVYSAMPTAYNTDYSLTSADLSALQGFNSPGMLSLGQVSAWQQHHLGQAALSSLVAGGQLSQGSNLSINTNQNISIKSEPISPPRDRMTPSGFQQQQQQQQQQQ
PPPPPQPQPQPPQPQPRQEMGRSPVDSLSSSSSSYDGSDREDPRGDFHSPIVLGRPPNTEDRESPSVKRMRMDAWVT
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top