Evidence Details for TOP1
Basic Information Top
Gene Symbol: | TOP1 ( TOPI ) |
---|---|
Gene Full Name: | topoisomerase (DNA) I |
Band: | 20q12 |
Quick Links | Entrez ID:7150; OMIM: 126420; Uniprot ID:TOP1_HUMAN; ENSEMBL ID: ENSG00000198900; HGNC ID: 11986 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TOP1|7150|nucleotide
ATGAGTGGGGACCACCTCCACAACGATTCCCAGATCGAAGCGGATTTCCGATTGAATGATTCTCATAAACACAAAGATAAACACAAAGATCGAGAACACCGGCAC
AAAGAACACAAGAAGGAGAAGGACCGGGAAAAGTCCAAGCATAGCAACAGTGAACATAAAGATTCTGAAAAGAAACACAAAGAGAAGGAGAAGACCAAACACAAA
GATGGAAGCTCAGAAAAGCATAAAGACAAACATAAAGACAGAGACAAGGAAAAACGAAAAGAGGAAAAGGTTCGAGCCTCTGGGGATGCAAAAATAAAGAAGGAG
AAGGAAAATGGCTTCTCTAGTCCACCACAAATTAAAGATGAACCTGAAGATGATGGCTATTTTGTTCCTCCTAAAGAGGATATAAAGCCATTAAAGAGACCTCGA
GATGAGGATGATGCTGATTATAAACCTAAGAAAATTAAAACAGAAGATACCAAGAAGGAGAAGAAAAGAAAACTAGAAGAAGAAGAGGATGGTAAATTGAAAAAA
CCCAAGAATAAAGATAAAGATAAAAAAGTTCCTGAGCCAGATAACAAGAAAAAGAAGCCGAAGAAAGAAGAGGAACAGAAGTGGAAATGGTGGGAAGAAGAGCGC
TATCCTGAAGGCATCAAGTGGAAATTCCTAGAACATAAAGGTCCAGTATTTGCCCCACCATATGAGCCTCTTCCAGAGAATGTCAAGTTTTATTATGATGGTAAA
GTCATGAAGCTGAGCCCCAAAGCAGAGGAAGTAGCTACGTTCTTTGCAAAAATGCTCGACCATGAATATACTACCAAGGAAATATTTAGGAAAAATTTCTTTAAA
GACTGGAGAAAGGAAATGACTAATGAAGAGAAGAATATTATCACCAACCTAAGCAAATGTGATTTTACCCAGATGAGCCAGTATTTCAAAGCCCAGACGGAAGCT
CGGAAACAGATGAGCAAGGAAGAGAAACTGAAAATCAAAGAGGAGAATGAAAAATTACTGAAAGAATATGGATTCTGTATTATGGATAACCACAAAGAGAGGATT
GCTAACTTCAAGATAGAGCCTCCTGGACTTTTCCGTGGCCGCGGCAACCACCCCAAGATGGGCATGCTGAAGAGACGAATCATGCCCGAGGATATAATCATCAAC
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ATGAGTGGGGACCACCTCCACAACGATTCCCAGATCGAAGCGGATTTCCGATTGAATGATTCTCATAAACACAAAGATAAACACAAAGATCGAGAACACCGGCAC
AAAGAACACAAGAAGGAGAAGGACCGGGAAAAGTCCAAGCATAGCAACAGTGAACATAAAGATTCTGAAAAGAAACACAAAGAGAAGGAGAAGACCAAACACAAA
GATGGAAGCTCAGAAAAGCATAAAGACAAACATAAAGACAGAGACAAGGAAAAACGAAAAGAGGAAAAGGTTCGAGCCTCTGGGGATGCAAAAATAAAGAAGGAG
AAGGAAAATGGCTTCTCTAGTCCACCACAAATTAAAGATGAACCTGAAGATGATGGCTATTTTGTTCCTCCTAAAGAGGATATAAAGCCATTAAAGAGACCTCGA
GATGAGGATGATGCTGATTATAAACCTAAGAAAATTAAAACAGAAGATACCAAGAAGGAGAAGAAAAGAAAACTAGAAGAAGAAGAGGATGGTAAATTGAAAAAA
CCCAAGAATAAAGATAAAGATAAAAAAGTTCCTGAGCCAGATAACAAGAAAAAGAAGCCGAAGAAAGAAGAGGAACAGAAGTGGAAATGGTGGGAAGAAGAGCGC
TATCCTGAAGGCATCAAGTGGAAATTCCTAGAACATAAAGGTCCAGTATTTGCCCCACCATATGAGCCTCTTCCAGAGAATGTCAAGTTTTATTATGATGGTAAA
GTCATGAAGCTGAGCCCCAAAGCAGAGGAAGTAGCTACGTTCTTTGCAAAAATGCTCGACCATGAATATACTACCAAGGAAATATTTAGGAAAAATTTCTTTAAA
GACTGGAGAAAGGAAATGACTAATGAAGAGAAGAATATTATCACCAACCTAAGCAAATGTGATTTTACCCAGATGAGCCAGTATTTCAAAGCCCAGACGGAAGCT
CGGAAACAGATGAGCAAGGAAGAGAAACTGAAAATCAAAGAGGAGAATGAAAAATTACTGAAAGAATATGGATTCTGTATTATGGATAACCACAAAGAGAGGATT
GCTAACTTCAAGATAGAGCCTCCTGGACTTTTCCGTGGCCGCGGCAACCACCCCAAGATGGGCATGCTGAAGAGACGAATCATGCCCGAGGATATAATCATCAAC
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2008 | - | SNP-based genomic screen | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
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 |
---|---|---|---|---|
Neale BM, 2012 | 175 | 175 | 173 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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