Evidence Details for TRIM23
Basic Information Top
Gene Symbol: | TRIM23 ( ARD1,ARFD1,RNF46 ) |
---|---|
Gene Full Name: | tripartite motif-containing 23 |
Band: | 5q12.3 |
Quick Links | Entrez 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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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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MATLVVNKLGAGVDSGRQGSRGTAVVKVLECGVCEDVFSLQGDKVPRLLLCGHTVCHDCLTRLPLHGRAIRCPFDRQVTDLGDSGVWGLKKNFALLELLERLQNG
PIGQYGAAEESIGISGESIIRCDEDEAHLASVYCTVCATHLCSECSQVTHSTKTLAKHRRVPLADKPHEKTMCSQHQVHAIEFVCLEEGCQTSPLMCCVCKEYGK
HQGHKHSVLEPEANQIRASILDMAHCIRTFTEEISDYSRKLVGIVQHIEGGEQIVEDGIGMAHTEHVPGTAENARSCIRAYFYDLHETLCRQEEMALSVVDAHVR
EKLIWLRQQQEDMTILLSEVSAACLHCEKTLQQDDCRVVLAKQEITRLLETLQKQQQQFTEVADHIQLDASIPVTFTKDNRVHIGPKMEIRVVTLGLDGAGKTTI
LFKLKQDEFMQPIPTIGFNVETVEYKNLKFTIWDVGGKHKLRPLWKHYYLNTQAVVFVVDSSHRDRISEAHSELAKLLTEKELRDALLLIFANKQDVAGALSVEE
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
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 |
Bramswig NC, 2017 | 7 | - | 14 | Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndr |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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