Evidence Details for POLI
Basic Information Top
Gene Symbol: | POLI ( RAD30B,RAD3OB ) |
---|---|
Gene Full Name: | polymerase (DNA directed) iota |
Band: | 18q21.2 |
Quick Links | Entrez ID:11201; OMIM: 605252; Uniprot ID:POLI_HUMAN; ENSEMBL ID: ENSG00000101751; HGNC ID: 9182 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>POLI|11201|nucleotide
ATGGAGAAGCTGGGGGTGGAGCCGGAGGAGGAAGGCGGCGGCGACGACGACGAGGAAGACGCCGAGGCCTGGGCCATGGAACTGGCGGACGTGGGGGCGGCAGCC
AGCTCGCAGGGAGTTCATGATCAAGTGTTGCCCACACCAAATGCTTCATCCAGAGTCATAGTACATGTGGATCTGGATTGCTTTTATGCACAAGTAGAAATGATC
TCAAATCCAGAGCTAAAAGACAAACCTTTAGGGGTTCAACAGAAATATTTGGTGGTTACCTGCAACTATGAAGCTAGGAAACTTGGAGTTAAGAAACTTATGAAT
GTCAGAGATGCAAAAGAAAAGTGTCCACAGTTGGTATTAGTTAATGGAGAAGACCTGACCCGCTACAGAGAAATGTCTTATAAGGTTACAGAATTACTGGAAGAA
TTTAGTCCAGTTGTTGAGAGACTTGGATTTGATGAAAATTTTGTGGATCTAACAGAAATGGTTGAGAAGAGACTACAGCAGCTGCAAAGTGATGAACTTTCTGCG
GTGACTGTGTCGGGTCATGTATACAATAATCAGTCTATAAACCTGCTTGACGTCTTGCACATCAGACTACTTGTTGGATCTCAGATTGCAGCAGAGATGCGGGAA
GCCATGTATAATCAGTTGGGGCTCACTGGCTGTGCTGGAGTGGCTTCTAATAAACTGTTGGCAAAATTAGTTTCTGGTGTCTTTAAACCAAATCAACAAACAGTC
TTATTACCTGAAAGTTGTCAACATCTTATTCATAGTTTGAATCACATAAAGGAAATACCTGGTATTGGCTATAAAACTGCCAAATGTCTTGAAGCACTGGGTATC
AATAGTGTGCGTGATCTCCAAACCTTTTCACCCAAAATTTTAGAAAAAGAATTAGGAATTTCAGTTGCTCAGCGTATCCAAAAGCTCAGTTTTGGAGAGGATAAC
TCCCCTGTGATACTCTCAGGACCACCTCAGTCCTTTAGTGAAGAAGATTCATTTAAAAAATGTTCATCTGAAGTTGAAGCTAAAAATAAGATTGAAGAACTACTT
GCTAGTCTTTTAAACAGAGTATGCCAAGATGGAAGGAAGCCTCATACAGTGAGATTAATAATCCGTCGGTATTCCTCTGAGAAGCACTATGGTCGTGAGAGTCGT
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ATGGAGAAGCTGGGGGTGGAGCCGGAGGAGGAAGGCGGCGGCGACGACGACGAGGAAGACGCCGAGGCCTGGGCCATGGAACTGGCGGACGTGGGGGCGGCAGCC
AGCTCGCAGGGAGTTCATGATCAAGTGTTGCCCACACCAAATGCTTCATCCAGAGTCATAGTACATGTGGATCTGGATTGCTTTTATGCACAAGTAGAAATGATC
TCAAATCCAGAGCTAAAAGACAAACCTTTAGGGGTTCAACAGAAATATTTGGTGGTTACCTGCAACTATGAAGCTAGGAAACTTGGAGTTAAGAAACTTATGAAT
GTCAGAGATGCAAAAGAAAAGTGTCCACAGTTGGTATTAGTTAATGGAGAAGACCTGACCCGCTACAGAGAAATGTCTTATAAGGTTACAGAATTACTGGAAGAA
TTTAGTCCAGTTGTTGAGAGACTTGGATTTGATGAAAATTTTGTGGATCTAACAGAAATGGTTGAGAAGAGACTACAGCAGCTGCAAAGTGATGAACTTTCTGCG
GTGACTGTGTCGGGTCATGTATACAATAATCAGTCTATAAACCTGCTTGACGTCTTGCACATCAGACTACTTGTTGGATCTCAGATTGCAGCAGAGATGCGGGAA
GCCATGTATAATCAGTTGGGGCTCACTGGCTGTGCTGGAGTGGCTTCTAATAAACTGTTGGCAAAATTAGTTTCTGGTGTCTTTAAACCAAATCAACAAACAGTC
TTATTACCTGAAAGTTGTCAACATCTTATTCATAGTTTGAATCACATAAAGGAAATACCTGGTATTGGCTATAAAACTGCCAAATGTCTTGAAGCACTGGGTATC
AATAGTGTGCGTGATCTCCAAACCTTTTCACCCAAAATTTTAGAAAAAGAATTAGGAATTTCAGTTGCTCAGCGTATCCAAAAGCTCAGTTTTGGAGAGGATAAC
TCCCCTGTGATACTCTCAGGACCACCTCAGTCCTTTAGTGAAGAAGATTCATTTAAAAAATGTTCATCTGAAGTTGAAGCTAAAAATAAGATTGAAGAACTACTT
GCTAGTCTTTTAAACAGAGTATGCCAAGATGGAAGGAAGCCTCATACAGTGAGATTAATAATCCGTCGGTATTCCTCTGAGAAGCACTATGGTCGTGAGAGTCGT
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>POLI|11201|protein
MEKLGVEPEEEGGGDDDEEDAEAWAMELADVGAAASSQGVHDQVLPTPNASSRVIVHVDLDCFYAQVEMISNPELKDKPLGVQQKYLVVTCNYEARKLGVKKLMN
VRDAKEKCPQLVLVNGEDLTRYREMSYKVTELLEEFSPVVERLGFDENFVDLTEMVEKRLQQLQSDELSAVTVSGHVYNNQSINLLDVLHIRLLVGSQIAAEMRE
AMYNQLGLTGCAGVASNKLLAKLVSGVFKPNQQTVLLPESCQHLIHSLNHIKEIPGIGYKTAKCLEALGINSVRDLQTFSPKILEKELGISVAQRIQKLSFGEDN
SPVILSGPPQSFSEEDSFKKCSSEVEAKNKIEELLASLLNRVCQDGRKPHTVRLIIRRYSSEKHYGRESRQCPIPSHVIQKLGTGNYDVMTPMVDILMKLFRNMV
NVKMPFHLTLLSVCFCNLKALNTAKKGLIDYYLMPSLSTTSRSGKHSFKMKDTHMEDFPKDKETNRDFLPSGRIESTRTRESPLDTTNFSKEKDINEFPLCSLPE
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MEKLGVEPEEEGGGDDDEEDAEAWAMELADVGAAASSQGVHDQVLPTPNASSRVIVHVDLDCFYAQVEMISNPELKDKPLGVQQKYLVVTCNYEARKLGVKKLMN
VRDAKEKCPQLVLVNGEDLTRYREMSYKVTELLEEFSPVVERLGFDENFVDLTEMVEKRLQQLQSDELSAVTVSGHVYNNQSINLLDVLHIRLLVGSQIAAEMRE
AMYNQLGLTGCAGVASNKLLAKLVSGVFKPNQQTVLLPESCQHLIHSLNHIKEIPGIGYKTAKCLEALGINSVRDLQTFSPKILEKELGISVAQRIQKLSFGEDN
SPVILSGPPQSFSEEDSFKKCSSEVEAKNKIEELLASLLNRVCQDGRKPHTVRLIIRRYSSEKHYGRESRQCPIPSHVIQKLGTGNYDVMTPMVDILMKLFRNMV
NVKMPFHLTLLSVCFCNLKALNTAKKGLIDYYLMPSLSTTSRSGKHSFKMKDTHMEDFPKDKETNRDFLPSGRIESTRTRESPLDTTNFSKEKDINEFPLCSLPE
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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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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