AutismKB 2.0

Evidence Details for EME2


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Basic Information Top
Gene Symbol:EME2 ( FLJ00151,SLX2B,gs125 )
Gene Full Name: essential meiotic endonuclease 1 homolog 2 (S. pombe)
Band: 16p13.3
Quick LinksEntrez ID:197342; OMIM: 610886; Uniprot ID:EME2_HUMAN; ENSEMBL ID: ENSG00000197774; HGNC ID: 27289
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EME2|197342|nucleotide
ATGGCGCGGGTTGGACCCGGGAGGGCGGGGGTCTCTTGCCAGGGCCGGGGCCGGGGACGGGGCGGGAGCGGTCAGCGGCGACCTCCAACCTGGGAGATCTCAGAC
TCCGACGCTGAGGACTCCGCCGGCTCGGAGGCCGCCGCGAGAGCCCGGGACCCAGCGGGTGAGCGCAGGGCGGCTGCCGAGGCGTTGCGGCTGCTGCGGCCGGAG
CAGGTGCTGAAGCGCCTCGCGGTGTGCGTGGACACAGCCATCCTGGAAGACGCCGGTGCCGACGTCCTGATGGAGGCCCTGGAGGCCCTGGGCTGCGAGTGCCGC
ATCGAGCCCCAGCGCCCGGCCCGCAGCCTGCGGTGGACCCGAGCGAGTCCCGACCCCTGCCCCCGCAGCCTGCCTCCTGAAGTGTGGGCTGCAGGTGAACAGGAA
TTGCTGCTGCTGCTGGAGCCCGAGGAGTTTCTGCAGGGCGTCGCCACACTGACCCAGATCTCTGGCCCAACCCACTGGGTGCCCTGGATCTCCCCCGAGACCACC
GCCCGGCCCCACCTGGCTGTCATCGGGCTGGATGCCTACCTGTGGTACCGCTCACTCTCATGCCCACAGCAGGGCTGGCTGGGACGGGGGTTCAGGGGAGGTGGG
CTCTGGCAGAGGCCAAGCTCGGGCAGGGCAGGCCCCATGGGGAGCGGGGAGGAATGGTCACCTCTGCTCAGGTCTCGCCAGCACGTTTCCCGGGGGACACAGCAG
CCAGAGAGCCCGAAGGTGGCCGGTGCCGAGGTGGCCGTCAGCTGGCCGGAGGTGGAAGAGGTGAGGGCCTGTCTGAGCTGGGCCCTGGTACTCCTGCAGCTCTGG
GCAAACCTGGACGTGCTACTGGTGGCCTCTTGGCAGGAGCTGAGTCGGCACGTGTGCGCCGTTACCAAGGCTCTCGCCCAGTATCCCCTCAAGTGCGTGATGCCA
AGGCTGAAGGGGGGCAGGATCACCTCAAGGCAGTACCGGGAATCCCAGGCCTTCTCCTTCTGCACAGCAGGGCGCTGGGCAGCCGGCGAGCCAGTGGCAAGAGAC
GGCGCAGGGCTGCAGGCGGCCTGGCGGAGGCAGATCAGGCAGTTCAGTCGGGTCAGCCCAGCCGTGGCTGATGCAGTTGTCACAGCCTTCCCCTCCCCCCGCCTT
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>EME2|197342|protein
MARVGPGRAGVSCQGRGRGRGGSGQRRPPTWEISDSDAEDSAGSEAAARARDPAGERRAAAEALRLLRPEQVLKRLAVCVDTAILEDAGADVLMEALEALGCECR
IEPQRPARSLRWTRASPDPCPRSLPPEVWAAGEQELLLLLEPEEFLQGVATLTQISGPTHWVPWISPETTARPHLAVIGLDAYLWYRSLSCPQQGWLGRGFRGGG
LWQRPSSGRAGPMGSGEEWSPLLRSRQHVSRGTQQPESPKVAGAEVAVSWPEVEEVRACLSWALVLLQLWANLDVLLVASWQELSRHVCAVTKALAQYPLKCVMP
RLKGGRITSRQYRESQAFSFCTAGRWAAGEPVARDGAGLQAAWRRQIRQFSRVSPAVADAVVTAFPSPRLLQQALEACSTERERMGLLADLPVPPSEGGRPRRVG
PDLSRRICLFLTTANPDLLLDLGS
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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 (1) 0 (0) 0 (0) 0 (0) 2 (5)
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