AutismKB 2.0

Evidence Details for MMP15


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Basic Information Top
Gene Symbol:MMP15 ( MT2-MMP,MTMMP2,SMCP-2 )
Gene Full Name: matrix metallopeptidase 15 (membrane-inserted)
Band: 16q21
Quick LinksEntrez ID:4324; OMIM: 602261; Uniprot ID:MMP15_HUMAN; ENSEMBL ID: ENSG00000102996; HGNC ID: 7161
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MMP15|4324|nucleotide
ATGGGCAGCGACCCGAGCGCGCCCGGACGGCCGGGCTGGACGGGCAGCCTCCTCGGCGACCGGGAGGAGGCGGCGCGGCCGCGACTGCTGCCGCTGCTCCTGGTG
CTTCTGGGCTGCCTGGGCCTTGGCGTAGCGGCCGAAGACGCGGAGGTCCATGCCGAGAACTGGCTGCGGCTTTATGGCTACCTGCCTCAGCCCAGCCGCCATATG
TCCACCATGCGTTCCGCCCAGATCTTGGCCTCGGCCCTTGCAGAGATGCAGCGCTTCTACGGGATCCCAGTCACCGGTGTGCTCGACGAAGAGACCAAGGAGTGG
ATGAAGCGGCCCCGCTGTGGGGTGCCAGACCAGTTCGGGGTACGAGTGAAAGCCAACCTGCGGCGGCGTCGGAAGCGCTACGCCCTCACCGGGAGGAAGTGGAAC
AACCACCATCTGACCTTTAGCATCCAGAACTACACGGAGAAGTTGGGCTGGTACCACTCGATGGAGGCGGTGCGCAGGGCCTTCCGCGTGTGGGAGCAGGCCACG
CCCCTGGTCTTCCAGGAGGTGCCCTATGAGGACATCCGGCTGCGGCGACAGAAGGAGGCCGACATCATGGTACTCTTTGCCTCTGGCTTCCACGGCGACAGCTCG
CCGTTTGATGGCACCGGTGGCTTTCTGGCCCACGCCTATTTCCCTGGCCCCGGCCTAGGCGGGGACACCCATTTTGACGCAGATGAGCCCTGGACCTTCTCCAGC
ACTGACCTGCATGGAAACAACCTCTTCCTGGTGGCAGTGCATGAGCTGGGCCACGCGCTGGGGCTGGAGCACTCCAGCAACCCCAATGCCATCATGGCGCCGTTC
TACCAGTGGAAGGACGTTGACAACTTCAAGCTGCCCGAGGACGATCTCCGTGGCATCCAGCAGCTCTACGGTACCCCAGACGGTCAGCCACAGCCTACCCAGCCT
CTCCCCACTGTGACGCCACGGCGGCCAGGCCGGCCTGACCACCGGCCGCCCCGGCCTCCCCAGCCACCACCCCCAGGTGGGAAGCCAGAGCGGCCCCCAAAGCCG
GGCCCCCCAGTCCAGCCCCGAGCCACAGAGCGGCCCGACCAGTATGGCCCCAACATCTGCGACGGGGACTTTGACACAGTGGCCATGCTTCGCGGGGAGATGTTC
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>MMP15|4324|protein
MGSDPSAPGRPGWTGSLLGDREEAARPRLLPLLLVLLGCLGLGVAAEDAEVHAENWLRLYGYLPQPSRHMSTMRSAQILASALAEMQRFYGIPVTGVLDEETKEW
MKRPRCGVPDQFGVRVKANLRRRRKRYALTGRKWNNHHLTFSIQNYTEKLGWYHSMEAVRRAFRVWEQATPLVFQEVPYEDIRLRRQKEADIMVLFASGFHGDSS
PFDGTGGFLAHAYFPGPGLGGDTHFDADEPWTFSSTDLHGNNLFLVAVHELGHALGLEHSSNPNAIMAPFYQWKDVDNFKLPEDDLRGIQQLYGTPDGQPQPTQP
LPTVTPRRPGRPDHRPPRPPQPPPPGGKPERPPKPGPPVQPRATERPDQYGPNICDGDFDTVAMLRGEMFVFKGRWFWRVRHNRVLDNYPMPIGHFWRGLPGDIS
AAYERQDGRFVFFKGDRYWLFREANLEPGYPQPLTSYGLGIPYDRIDTAIWWEPTGHTFFFQEDRYWRFNEETQRGDPGYPKPISVWQGIPASPKGAFLSNDAAY
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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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top