Evidence Details for CNOT3
Basic Information Top
| Gene Symbol: | CNOT3 ( KIAA0691,LENG2,NOT3,NOT3H ) |
|---|---|
| Gene Full Name: | CCR4-NOT transcription complex, subunit 3 |
| Band: | 19q13.42 |
| Quick Links | Entrez ID:4849; OMIM: 604910; Uniprot ID:CNOT3_HUMAN; ENSEMBL ID: ENSG00000088038; HGNC ID: 7879 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CNOT3|4849|nucleotide
ATGGCGGACAAGCGCAAACTCCAAGGTGAGATTGATCGCTGCCTCAAGAAGGTGTCCGAGGGCGTGGAGCAGTTTGAAGATATTTGGCAGAAGCTCCACAATGCA
GCCAACGCGAACCAGAAAGAAAAGTATGAGGCTGACCTAAAGAAGGAGATTAAGAAGCTACAACGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAG
ATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGCAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACCAAAGCTTACAGCAAA
GAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAGAAGGAAGAGGTTGGCCAGTGGCTCACGAATACCATCGACACGCTCAACATGCAGGTGGAC
CAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATAAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAG
CACCGCTACCACGTGCGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGACGCCATCCGCAAGATCAAGGACGACGTTGAGTACTAT
GTTGACTCATCCCAGGACCCCGACTTCGAGGAGAACGAGTTTCTCTACGATGACCTGGACCTCGAGGACATTCCACAGGCGCTGGTCGCCACCTCCCCCCCCAGC
CACAGCCACATGGAGGATGAGATCTTCAACCAGTCCAGCAGCACGCCCACCTCAACCACCTCCAGCTCTCCCATCCCGCCCAGCCCAGCCAACTGTACCACGGAA
AACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGTCTCCAGCCAAAAACGGCTCCAAGCCTGTCCACAGCAACCAGCACCCTCAG
TCCCCAGCTGTGCCGCCCACCTACCCCTCCGGCCCCCCGCCTGCTGCCTCTGCCTTGAGCACCACTCCTGGCAACAATGGGGTCCCCGCCCCCGCAGCACCCCCA
AGTGCCCTGGGCCCCAAGGCCAGTCCAGCTCCCAGCCACAACTCGGGCACCCCTGCTCCCTATGCCCAGGCTGTGGCCCCACCAGCTCCCAGTGGGCCCAGCACG
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ATGGCGGACAAGCGCAAACTCCAAGGTGAGATTGATCGCTGCCTCAAGAAGGTGTCCGAGGGCGTGGAGCAGTTTGAAGATATTTGGCAGAAGCTCCACAATGCA
GCCAACGCGAACCAGAAAGAAAAGTATGAGGCTGACCTAAAGAAGGAGATTAAGAAGCTACAACGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAG
ATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGCAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACCAAAGCTTACAGCAAA
GAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAGAAGGAAGAGGTTGGCCAGTGGCTCACGAATACCATCGACACGCTCAACATGCAGGTGGAC
CAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATAAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAG
CACCGCTACCACGTGCGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGACGCCATCCGCAAGATCAAGGACGACGTTGAGTACTAT
GTTGACTCATCCCAGGACCCCGACTTCGAGGAGAACGAGTTTCTCTACGATGACCTGGACCTCGAGGACATTCCACAGGCGCTGGTCGCCACCTCCCCCCCCAGC
CACAGCCACATGGAGGATGAGATCTTCAACCAGTCCAGCAGCACGCCCACCTCAACCACCTCCAGCTCTCCCATCCCGCCCAGCCCAGCCAACTGTACCACGGAA
AACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGTCTCCAGCCAAAAACGGCTCCAAGCCTGTCCACAGCAACCAGCACCCTCAG
TCCCCAGCTGTGCCGCCCACCTACCCCTCCGGCCCCCCGCCTGCTGCCTCTGCCTTGAGCACCACTCCTGGCAACAATGGGGTCCCCGCCCCCGCAGCACCCCCA
AGTGCCCTGGGCCCCAAGGCCAGTCCAGCTCCCAGCCACAACTCGGGCACCCCTGCTCCCTATGCCCAGGCTGTGGCCCCACCAGCTCCCAGTGGGCCCAGCACG
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>CNOT3|4849|protein
MADKRKLQGEIDRCLKKVSEGVEQFEDIWQKLHNAANANQKEKYEADLKKEIKKLQRLRDQIKTWVASNEIKDKRQLIDNRKLIETQMERFKVVERETKTKAYSK
EGLGLAQKVDPAQKEKEEVGQWLTNTIDTLNMQVDQFESEVESLSVQTRKKKGDKDKQDRIEGLKRHIEKHRYHVRMLETILRMLDNDSILVDAIRKIKDDVEYY
VDSSQDPDFEENEFLYDDLDLEDIPQALVATSPPSHSHMEDEIFNQSSSTPTSTTSSSPIPPSPANCTTENSEDDKKRGRSTDSEVSQSPAKNGSKPVHSNQHPQ
SPAVPPTYPSGPPPAASALSTTPGNNGVPAPAAPPSALGPKASPAPSHNSGTPAPYAQAVAPPAPSGPSTTQPRPPSVQPSGGGGGGSGGGGSSSSSNSSAGGGA
GKQNGATSYSSVVADSPAEVALSSSGGNNASSQALGPPSGPHNPPPSTSKEPSAAAPTGAGGVAPGSGNNSGGPSLLVPLPVNPPSSPTPSFSDAKAAGALLNGP
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MADKRKLQGEIDRCLKKVSEGVEQFEDIWQKLHNAANANQKEKYEADLKKEIKKLQRLRDQIKTWVASNEIKDKRQLIDNRKLIETQMERFKVVERETKTKAYSK
EGLGLAQKVDPAQKEKEEVGQWLTNTIDTLNMQVDQFESEVESLSVQTRKKKGDKDKQDRIEGLKRHIEKHRYHVRMLETILRMLDNDSILVDAIRKIKDDVEYY
VDSSQDPDFEENEFLYDDLDLEDIPQALVATSPPSHSHMEDEIFNQSSSTPTSTTSSSPIPPSPANCTTENSEDDKKRGRSTDSEVSQSPAKNGSKPVHSNQHPQ
SPAVPPTYPSGPPPAASALSTTPGNNGVPAPAAPPSALGPKASPAPSHNSGTPAPYAQAVAPPAPSGPSTTQPRPPSVQPSGGGGGGSGGGGSSSSSNSSAGGGA
GKQNGATSYSSVVADSPAEVALSSSGGNNASSQALGPPSGPHNPPPSTSKEPSAAAPTGAGGVAPGSGNNSGGPSLLVPLPVNPPSSPTPSFSDAKAAGALLNGP
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Evidence summary TopClick 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) | 1 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (4) | 0 (0) | 0 (0) | 0 (0) | 4 (7) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
| C Yuen RK, 2017 | - | WGS | | | ASD | - | - | - | - | 1745 | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
| O'Roak BJ, 2014 | 3486 | - | 59 | Recurrent de novo mutations implicate novel genes underlying simplex autism risk. |
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.