AutismKB 2.0

Evidence Details for TJP3


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Basic Information Top
Gene Symbol:TJP3 ( MGC119546,ZO-3,ZO3 )
Gene Full Name: tight junction protein 3 (zona occludens 3)
Band: 19p13.3
Quick LinksEntrez ID:27134; OMIM: 612689; Uniprot ID:ZO3_HUMAN; ENSEMBL ID: ENSG00000105289; HGNC ID: 11829
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TJP3|27134|nucleotide
ATGAACCTGTGTGGCCTCATGCCCATCTTCCCCGCTCCCCTCGACCAGGTGGCTGACATGGAGGAGCTGACCATCTGGGAACAGCACACGGCCACACTGTCCAAG
GACCCCCGCCGGGGCTTTGGCATTGCGATCTCTGGAGGCCGAGACCGGCCCGGTGGATCCATGGTTGTATCTGACGTGGTACCTGGAGGGCCGGCGGAGGGCAGG
CTACAGACAGGCGACCACATCGTCATGGTGAACGGGGTTTCCATGGAGAATGCCACCTCCGCGTTTGCCATTCAGATACTCAAGACCTGCACCAAGATGGCCAAC
ATCACAGTGAAACGTCCCCGGAGGATCCACCTGCCCGCCACCAAAGCCAGCCCCTCCAGCCCAGGGCGCCAGGACTCGGATGAAGACGATGGGCCCCAGCGGGTG
GAGGAGGTGGACCAGGGCCGGGGCTATGACGGCGACTCATCCAGTGGCTCCGGCCGCTCCTGGGACGAGCGCTCCCGCCGGCCGAGGCCTGGTCGCCGGGGCCGG
GCCGGCAGCCATGGGCGTAGGAGCCCAGGTGGTGGCTCTGAGGCCAACGGGCTGGCCCTGGTGTCCGGCTTTAAGCGGCTGCCACGGCAGGACGTGCAGATGAAG
CCTGTGAAGTCAGTGCTGGTGAAGAGGAGAGACAGCGAAGAGTTTGGCGTCAAGCTGGGCAGTCAGATCTTCATCAAGCACATTACAGATTCGGGCCTGGCTGCC
CGGCACCGTGGGCTGCAGGAAGGAGATCTCATTCTACAGATCAACGGGGTGTCTAGCCAGAACCTGTCACTGAACGACACCCGGCGACTGATTGAGAAGTCAGAA
GGGAAGCTAAGCCTGCTGGTGCTGAGAGATCGTGGGCAGTTCCTGGTGAACATTCCGCCTGCTGTCAGTGACAGCGACAGCTCGCCATTGGAGGAAGGCGTGACC
ATGGCTGATGAGATGTCCTCTCCCCCTGCAGACATCTCGGACCTCGCCTCGGAGCTATCGCAGGCACCACCATCCCACATCCCACCACCACCCCGGCATGCTCAG
CGGAGCCCCGAGGCCAGCCAGACCGACTCTCCCGTGGAGAGTCCCCGGCTTCGGCGGGAAAGTTCAGTAGATTCCAGAACCATCTCGGAACCAGATGAGCAACGG
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>TJP3|27134|protein
MNLCGLMPIFPAPLDQVADMEELTIWEQHTATLSKDPRRGFGIAISGGRDRPGGSMVVSDVVPGGPAEGRLQTGDHIVMVNGVSMENATSAFAIQILKTCTKMAN
ITVKRPRRIHLPATKASPSSPGRQDSDEDDGPQRVEEVDQGRGYDGDSSSGSGRSWDERSRRPRPGRRGRAGSHGRRSPGGGSEANGLALVSGFKRLPRQDVQMK
PVKSVLVKRRDSEEFGVKLGSQIFIKHITDSGLAARHRGLQEGDLILQINGVSSQNLSLNDTRRLIEKSEGKLSLLVLRDRGQFLVNIPPAVSDSDSSPLEEGVT
MADEMSSPPADISDLASELSQAPPSHIPPPPRHAQRSPEASQTDSPVESPRLRRESSVDSRTISEPDEQRSELPRESSYDIYRVPSSQSMEDRGYSPDTRVVRFL
KGKSIGLRLAGGNDVGIFVSGVQAGSPADGQGIQEGDQILQVNDVPFQNLTREEAVQFLLGLPPGEEMELVTQRKQDIFWKMVQSRVGDSFYIRTHFELEPSPPS
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top