AutismKB 2.0

Evidence Details for MMRN2


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Basic Information Top
Gene Symbol:MMRN2 ( EMILIN3,EndoGlyx-1,FLJ13465 )
Gene Full Name: multimerin 2
Band: 10q23.2
Quick LinksEntrez ID:79812; OMIM: 608925; Uniprot ID:MMRN2_HUMAN; ENSEMBL ID: ENSG00000173269; HGNC ID: 19888
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MMRN2|79812|nucleotide
ATGATCCTGAGCTTGCTGTTCAGCCTTGGGGGCCCCCTGGGCTGGGGGCTGCTGGGGGCATGGGCCCAGGCTTCCAGTACTAGCCTCTCTGATCTGCAGAGCTCC
AGGACACCTGGGGTCTGGAAGGCAGAGGCTGAGGACACCGGCAAGGACCCCGTTGGACGTAACTGGTGCCCCTACCCAATGTCCAAGCTGGTCACCTTACTAGCT
CTTTGCAAAACAGAGAAATTCCTCATCCACTCGCAGCAGCCGTGTCCGCAGGGAGCTCCAGACTGCCAGAAAGTCAAAGTCATGTACCGCATGGCCCACAAGCCA
GTGTACCAGGTCAAGCAGAAGGTGCTGACCTCTTTGGCCTGGAGGTGCTGCCCTGGCTACACGGGCCCCAACTGCGAGCACCACGATTCCATGGCAATCCCTGAG
CCTGCAGATCCTGGTGACAGCCACCAGGAACCTCAGGATGGACCAGTCAGCTTCAAACCTGGCCACCTTGCTGCAGTGATCAATGAGGTTGAGGTGCAACAGGAA
CAGCAGGAACATCTGCTGGGAGATCTCCAGAATGATGTGCACCGGGTGGCAGACAGCCTGCCAGGCCTGTGGAAAGCCCTGCCTGGTAACCTCACAGCTGCAGTG
ATGGAAGCAAATCAAACAGGGCACGAGTTCCCTGATAGATCCTTGGAGCAGGTGCTGCTACCCCACGTGGACACCTTCCTACAAGTGCATTTCAGCCCCATCTGG
AGGAGCTTTAACCAAAGCCTGCACAGCCTTACCCAGGCCATAAGAAACCTGTCTCTTGACGTGGAGGCCAACCGCCAGGCCATCTCCAGAGTCCAGGACAGTGCC
GTGGCCAGGGCTGACTTCCAGGAGCTTGGTGCCAAATTTGAGGCCAAGGTCCAGGAGAACACTCAGAGAGTGGGTCAGCTGCGACAGGACGTGGAGGACCGCCTG
CACGCCCAGCACTTTACCCTGCACCGCTCGATCTCAGAGCTCCAAGCCGATGTGGACACCAAATTGAAGAGGCTGCACAAGGCTCAGGAGGCCCCAGGGACCAAT
GGCAGTCTGGTGTTGGCAACGCCTGGGGCTGGGGCAAGGCCTGAGCCGGACAGCCTGCAGGCCAGGCTGGGCCAGCTGCAGAGGAACCTCTCAGAGCTGCACATG
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>MMRN2|79812|protein
MILSLLFSLGGPLGWGLLGAWAQASSTSLSDLQSSRTPGVWKAEAEDTGKDPVGRNWCPYPMSKLVTLLALCKTEKFLIHSQQPCPQGAPDCQKVKVMYRMAHKP
VYQVKQKVLTSLAWRCCPGYTGPNCEHHDSMAIPEPADPGDSHQEPQDGPVSFKPGHLAAVINEVEVQQEQQEHLLGDLQNDVHRVADSLPGLWKALPGNLTAAV
MEANQTGHEFPDRSLEQVLLPHVDTFLQVHFSPIWRSFNQSLHSLTQAIRNLSLDVEANRQAISRVQDSAVARADFQELGAKFEAKVQENTQRVGQLRQDVEDRL
HAQHFTLHRSISELQADVDTKLKRLHKAQEAPGTNGSLVLATPGAGARPEPDSLQARLGQLQRNLSELHMTTARREEELQYTLEDMRATLTRHVDEIKELYSESD
ETFDQISKVERQVEELQVNHTALRELRVILMEKSLIMEENKEEVERQLLELNLTLQHLQGGHADLIKYVKDCNCQKLYLDLDVIREGQRDATRALEETQVSLDER
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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 (3) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 0 (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
Balciuniene, 2007 - aCGH, SNP microarrayautism 1 - 1 - - - -
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top