AutismKB 2.0

Evidence Details for ME1


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Basic Information Top
Gene Symbol:ME1 ( HUMNDME,MES )
Gene Full Name: malic enzyme 1, NADP(+)-dependent, cytosolic
Band: 6q14.2
Quick LinksEntrez ID:4199; OMIM: 154250; Uniprot ID:MAOX_HUMAN; ENSEMBL ID: ENSG00000065833; HGNC ID: 6983
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ME1|4199|nucleotide
ATGGAGCCCGAAGCCCCCCGTCGCCGCCACACCCATCAGCGCGGCTACCTGCTGACACGGAACCCTCACCTCAACAAGGACTTGGCCTTTACCCTGGAAGAGAGA
CAGCAATTGAACATTCATGGATTGTTGCCACCTTCCTTCAACAGTCAGGAGATCCAGGTTCTTAGAGTAGTAAAAAATTTCGAGCATCTGAACTCTGACTTTGAC
AGGTATCTTCTCTTAATGGATCTCCAAGATAGAAATGAAAAACTCTTTTATAGAGTGCTGACATCTGACATTGAGAAATTCATGCCTATTGTTTATACTCCCACT
GTGGGTCTGGCTTGCCAACAATATAGTTTGGTGTTTCGGAAGCCAAGAGGTCTCTTTATTACTATCCACGATCGAGGGCATATTGCTTCAGTTCTCAATGCATGG
CCAGAAGATGTCATCAAGGCCATTGTGGTGACTGATGGAGAGCGTATTCTTGGCTTGGGAGACCTTGGCTGTAATGGAATGGGCATCCCTGTGGGTAAATTGGCT
CTATATACAGCTTGCGGAGGGATGAATCCTCAAGAATGTCTGCCTGTCATTCTGGATGTGGGAACCGAAAATGAGGAGTTACTTAAAGATCCACTCTACATTGGA
CTACGGCAGAGAAGAGTAAGAGGTTCTGAATATGATGATTTTTTGGACGAATTCATGGAGGCAGTTTCTTCCAAGTATGGCATGAATTGCCTTATTCAGTTTGAA
GATTTTGCCAATGTGAATGCATTTCGTCTCCTGAACAAGTATCGAAACCAGTATTGCACATTCAATGATGATATTCAAGGAACAGCATCTGTTGCAGTTGCAGGT
CTCCTTGCAGCTCTTCGAATAACCAAGAACAAACTGTCTGATCAAACAATACTATTCCAAGGAGCTGGAGAGGCTGCCCTAGGGATTGCACACCTGATTGTGATG
GCCTTGGAAAAAGAAGGTTTACCAAAAGAGAAAGCCATCAAAAAGATATGGCTGGTTGATTCAAAAGGATTAATAGTTAAGGGACGTGCTTCCTTAACACAAGAG
AAAGAGAAGTTTGCCCATGAACATGAAGAAATGAAGAACCTAGAAGCCATTGTTCAAGAAATAAAACCAACTGCCCTCATAGGAGTTGCTGCAATTGGTGGTGCA
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>ME1|4199|protein
MEPEAPRRRHTHQRGYLLTRNPHLNKDLAFTLEERQQLNIHGLLPPSFNSQEIQVLRVVKNFEHLNSDFDRYLLLMDLQDRNEKLFYRVLTSDIEKFMPIVYTPT
VGLACQQYSLVFRKPRGLFITIHDRGHIASVLNAWPEDVIKAIVVTDGERILGLGDLGCNGMGIPVGKLALYTACGGMNPQECLPVILDVGTENEELLKDPLYIG
LRQRRVRGSEYDDFLDEFMEAVSSKYGMNCLIQFEDFANVNAFRLLNKYRNQYCTFNDDIQGTASVAVAGLLAALRITKNKLSDQTILFQGAGEAALGIAHLIVM
ALEKEGLPKEKAIKKIWLVDSKGLIVKGRASLTQEKEKFAHEHEEMKNLEAIVQEIKPTALIGVAAIGGAFSEQILKDMAAFNERPIIFALSNPTSKAECSAEQC
YKITKGRAIFASGSPFDPVTLPNGQTLYPGQGNNSYVFPGVALGVVACGLRQITDNIFLTTAEVIAQQVSDKHLEEGRLYPPLNTIRDVSLKIAEKIVKDAYQEK
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Quintela I, 2015 - ---autistic disorder - - - - 1 - 1
Linkage Studies Top