AutismKB 2.0

Evidence Details for MMP21


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Basic Information Top
Gene Symbol:MMP21 ( - )
Gene Full Name: matrix metallopeptidase 21
Band: 10q26.2
Quick LinksEntrez ID:118856; OMIM: 608416; Uniprot ID:MMP21_HUMAN; ENSEMBL ID: ENSG00000154485; HGNC ID: 14357
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MMP21|118856|nucleotide
ATGCTCGCCGCCTCCATCTTCCGTCCGACACTGCTGCTCTGCTGGCTGGCTGCTCCCTGGCCCACCCAGCCCGAGAGTCTCTTCCACAGCCGGGACCGCTCGGAC
CTGGAGCCGTCCCCACTGCGCCAGGCCAAGCCCATTGCCGACCTCCACGCTGCTCAGCGGTTCCTGTCCAGATACGGCTGGTCAGGGGTGTGGGCGGCCTGGGGG
CCCAGTCCCGAGGGGCCGCCGGAGACCCCCAAGGGCGCCGCCCTGGCCGAGGCGGTGCGCAGGTTCCAGCGGGCGAACGCGCTGCCGGCCAGCGGGGAGCTGGAC
GCGGCCACCCTAGCGGCCATGAACCGGCCGCGCTGCGGGGTCCCGGACATGCGCCCACCGCCCCCCTCCGCCCCGCCTTCGCCCCCGGGCCCGCCCCCCAGAGCC
CGCTCCAGGCGCTCCCCGCGGGCGCCGCTGTCCTTGTCCCGGCGGGGTTGGCAGCCCCGGGGCTACCCCGACGGCGGAGCTGCCCAGGCCTTCTCCAAGAGGACG
CTGAGCTGGCGGCTGCTGGGCGAGGCCCTGAGCAGCCAACTGTCCGTGGCCGACCAGCGGCGCATTGTGGCGCTGGCCTTCAGGATGTGGAGCGAGGTGACGCCG
CTGGACTTCCGCGAGGACCTGGCCGCCCCCGGGGCCGCGGTCGACATCAAGCTGGGCTTTGGGAGAGGCCGGCACCTGGGCTGTCCGCGGGCCTTCGATGGGAGC
GGGCAGGAGTTTGCACACGCCTGGCGCCTAGGTGACATTCACTTTGACGACGACGAGCACTTCACACCTCCCACCAGTGACACGGGCATCAGCCTTCTCAAGGTG
GCCGTCCATGAAATTGGCCATGTCCTGGGCTTGCCTCACACCTACAGGACGGGATCCATAATGCAACCAAATTACATTCCCCAGGAGCCTGCCTTTGAGTTGGAC
TGGTCAGACAGGAAAGCAATTCAAAAGCTGTATGGCTCCTGTGAGGGATCATTTGATACTGCGTTTGACTGGATTCGCAAAGAGAGAAACCAATATGGAGAGGTG
ATGGTGAGATTTAGCACATATTTCTTCCGTAACAGCTGGTACTGGCTTTATGAAAATCGAAACAATAGGACACGCTATGGGGACCCTATCCAAATCCTCACTGGC
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>MMP21|118856|protein
MLAASIFRPTLLLCWLAAPWPTQPESLFHSRDRSDLEPSPLRQAKPIADLHAAQRFLSRYGWSGVWAAWGPSPEGPPETPKGAALAEAVRRFQRANALPASGELD
AATLAAMNRPRCGVPDMRPPPPSAPPSPPGPPPRARSRRSPRAPLSLSRRGWQPRGYPDGGAAQAFSKRTLSWRLLGEALSSQLSVADQRRIVALAFRMWSEVTP
LDFREDLAAPGAAVDIKLGFGRGRHLGCPRAFDGSGQEFAHAWRLGDIHFDDDEHFTPPTSDTGISLLKVAVHEIGHVLGLPHTYRTGSIMQPNYIPQEPAFELD
WSDRKAIQKLYGSCEGSFDTAFDWIRKERNQYGEVMVRFSTYFFRNSWYWLYENRNNRTRYGDPIQILTGWPGIPTHNIDAFVHIWTWKRDERYFFQGNQYWRYD
SDKDQALTEDEQGKSYPKLISEGFPGIPSPLDTAFYDRRQKLIYFFKESLVFAFDVNRNRVLNSYPKRITEVFPAVIPQNHPFRNIDSAYYSYAYNSIFFFKGNA
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018