AutismKB 2.0

Evidence Details for TRIM23


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Basic Information Top
Gene Symbol:TRIM23 ( ARD1,ARFD1,RNF46 )
Gene Full Name: tripartite motif-containing 23
Band: 5q12.3
Quick LinksEntrez ID:373; OMIM: 601747; Uniprot ID:TRI23_HUMAN; ENSEMBL ID: ENSG00000113595; HGNC ID: 660
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRIM23|373|nucleotide
ATGGCTACCCTGGTTGTAAACAAGCTCGGAGCGGGAGTAGACAGTGGCCGGCAGGGCAGCCGGGGGACAGCTGTAGTGAAGGTGCTAGAGTGTGGAGTTTGTGAA
GATGTCTTTTCTTTGCAAGGAGACAAAGTTCCCCGTCTTTTGCTTTGTGGCCATACCGTCTGTCATGACTGTCTCACTCGCCTACCTCTTCATGGAAGAGCAATC
CGTTGCCCATTTGATCGACAAGTAACAGACCTAGGTGATTCAGGTGTCTGGGGATTGAAAAAAAATTTTGCTTTATTGGAGCTTTTGGAACGACTGCAGAATGGG
CCTATTGGTCAGTATGGAGCTGCAGAAGAATCCATTGGGATATCTGGAGAGAGCATCATTCGTTGTGATGAAGATGAAGCTCACCTTGCCTCTGTATATTGCACT
GTGTGTGCAACTCATTTGTGCTCTGAGTGTTCTCAAGTTACTCATTCTACAAAGACATTAGCAAAGCACAGGCGAGTTCCTCTAGCTGATAAACCTCATGAGAAA
ACTATGTGCTCTCAGCACCAGGTGCATGCCATTGAGTTTGTTTGCTTGGAAGAAGGTTGTCAAACTAGCCCACTCATGTGCTGTGTCTGCAAAGAATATGGAAAA
CACCAGGGTCACAAGCATTCAGTATTGGAACCAGAAGCTAATCAGATCCGAGCATCAATTTTAGATATGGCTCACTGCATACGGACCTTCACAGAGGAAATCTCA
GATTATTCCAGAAAATTAGTTGGAATTGTGCAGCACATTGAAGGAGGAGAACAAATCGTGGAAGATGGAATTGGAATGGCTCACACAGAACATGTACCAGGGACT
GCAGAGAATGCCCGGTCATGTATTCGAGCTTATTTTTATGATCTACATGAAACTCTGTGTCGTCAAGAAGAAATGGCTCTAAGTGTTGTTGATGCTCATGTTCGT
GAAAAATTGATTTGGCTCAGGCAGCAACAAGAAGATATGACTATTTTGTTGTCAGAGGTTTCTGCAGCCTGCCTCCACTGTGAAAAGACTTTGCAGCAGGATGAT
TGTAGAGTTGTCTTGGCAAAACAGGAAATTACAAGGTTACTGGAAACATTGCAGAAACAGCAGCAGCAGTTTACAGAAGTTGCAGATCACATTCAGTTGGATGCC
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>TRIM23|373|protein
MATLVVNKLGAGVDSGRQGSRGTAVVKVLECGVCEDVFSLQGDKVPRLLLCGHTVCHDCLTRLPLHGRAIRCPFDRQVTDLGDSGVWGLKKNFALLELLERLQNG
PIGQYGAAEESIGISGESIIRCDEDEAHLASVYCTVCATHLCSECSQVTHSTKTLAKHRRVPLADKPHEKTMCSQHQVHAIEFVCLEEGCQTSPLMCCVCKEYGK
HQGHKHSVLEPEANQIRASILDMAHCIRTFTEEISDYSRKLVGIVQHIEGGEQIVEDGIGMAHTEHVPGTAENARSCIRAYFYDLHETLCRQEEMALSVVDAHVR
EKLIWLRQQQEDMTILLSEVSAACLHCEKTLQQDDCRVVLAKQEITRLLETLQKQQQQFTEVADHIQLDASIPVTFTKDNRVHIGPKMEIRVVTLGLDGAGKTTI
LFKLKQDEFMQPIPTIGFNVETVEYKNLKFTIWDVGGKHKLRPLWKHYYLNTQAVVFVVDSSHRDRISEAHSELAKLLTEKELRDALLLIFANKQDVAGALSVEE
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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 (1) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 10 (3)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top