AutismKB 2.0

Evidence Details for MMP19


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Basic Information Top
Gene Symbol:MMP19 ( MMP18,RASI-1 )
Gene Full Name: matrix metallopeptidase 19
Band: 12q13.2
Quick LinksEntrez ID:4327; OMIM: 601807; Uniprot ID:MMP19_HUMAN; ENSEMBL ID: ENSG00000123342; HGNC ID: 7165
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MMP19|4327|nucleotide
ATGAACTGCCAGCAGCTGTGGCTGGGCTTCCTACTCCCCATGACAGTCTCAGGCCGGGTCCTGGGGCTTGCAGAGGTGGCGCCCGTGGACTACCTGTCACAATAT
GGGTACCTACAGAAGCCTCTAGAAGGATCTAATAACTTCAAGCCAGAAGATATCACCGAGGCTCTGAGAGCTTTTCAGGAAGCATCTGAACTTCCAGTCTCAGGT
CAGCTGGATGATGCCACAAGGGCCCGCATGAGGCAGCCTCGTTGTGGCCTAGAGGATCCCTTCAACCAGAAGACCCTTAAATACCTGTTGCTGGGCCGCTGGAGA
AAGAAGCACCTGACTTTCCGCATCTTGAACCTGCCCTCCACCCTTCCACCCCACACAGCCCGGGCAGCCCTGCGTCAAGCCTTCCAGGACTGGAGCAATGTGGCT
CCCTTGACCTTCCAAGAGGTGCAGGCTGGTGCGGCTGACATCCGCCTCTCCTTCCATGGCCGCCAAAGCTCGTACTGTTCCAATACTTTTGATGGGCCTGGGAGA
GTCCTGGCCCATGCCGACATCCCAGAGCTGGGCAGTGTGCACTTCGACGAAGACGAGTTCTGGACTGAGGGGACCTACCGTGGGGTGAACCTGCGCATCATTGCA
GCCCATGAAGTGGGCCATGCTCTGGGGCTTGGGCACTCCCGATATTCCCAGGCCCTCATGGCCCCAGTCTACGAGGGCTACCGGCCCCACTTTAAGCTGCACCCA
GATGATGTGGCAGGGATCCAGGCTCTCTATGGCAAGAAGAGTCCAGTGATAAGGGATGAGGAAGAAGAAGAGACAGAGCTGCCCACTGTGCCCCCAGTGCCCACA
GAACCCAGTCCCATGCCAGACCCTTGCAGTAGTGAACTGGATGCCATGATGCTGGGGCCCCGTGGGAAGACCTATGCTTTCAAGGGGGACTATGTGTGGACTGTA
TCAGATTCAGGACCGGGCCCCTTGTTCCGAGTGTCTGCCCTTTGGGAGGGGCTCCCCGGAAACCTGGATGCTGCTGTCTACTCGCCTCGAACACAATGGATTCAC
TTCTTTAAGGGAGACAAGGTGTGGCGCTACATTAATTTCAAGATGTCTCCTGGCTTCCCCAAGAAGCTGAATAGGGTAGAACCTAACCTGGATGCAGCTCTCTAT
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>MMP19|4327|protein
MNCQQLWLGFLLPMTVSGRVLGLAEVAPVDYLSQYGYLQKPLEGSNNFKPEDITEALRAFQEASELPVSGQLDDATRARMRQPRCGLEDPFNQKTLKYLLLGRWR
KKHLTFRILNLPSTLPPHTARAALRQAFQDWSNVAPLTFQEVQAGAADIRLSFHGRQSSYCSNTFDGPGRVLAHADIPELGSVHFDEDEFWTEGTYRGVNLRIIA
AHEVGHALGLGHSRYSQALMAPVYEGYRPHFKLHPDDVAGIQALYGKKSPVIRDEEEEETELPTVPPVPTEPSPMPDPCSSELDAMMLGPRGKTYAFKGDYVWTV
SDSGPGPLFRVSALWEGLPGNLDAAVYSPRTQWIHFFKGDKVWRYINFKMSPGFPKKLNRVEPNLDAALYWPLNQKVFLFKGSGYWQWDELARTDFSSYPKPIKG
LFTGVPNQPSAAMSWQDGRVYFFKGKVYWRLNQQLRVEKGYPRNISHNWMHCRPRTIDTTPSGGNTTPSGTGITLDTTLSATETTFEY
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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 (0) 0 (0) 0 (1) 0 (0) 0 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top