Evidence Details for TOP3B
Basic Information Top
| Gene Symbol: | TOP3B ( FLJ39376 ) |
|---|---|
| Gene Full Name: | topoisomerase (DNA) III beta |
| Band: | 22q11.22 |
| Quick Links | Entrez ID:8940; OMIM: 603582; Uniprot ID:TOP3B_HUMAN; ENSEMBL ID: ENSG00000100038; HGNC ID: 11993 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TOP3B|8940|nucleotide
ATGAAGACTGTGCTCATGGTTGCTGAAAAGCCGTCCTTGGCACAGTCAATTGCCAAAATCCTCTCTAGAGGGAGCCTGTCCTCACACAAAGGGCTGAACGGGGCC
TGCTCAGTCCACGAGTACACTGGGACCTTTGCTGGCCAGCCAGTGCGCTTCAAGATGACGTCTGTCTGTGGTCACGTGATGACCCTGGATTTCCTGGGAAAATAC
AACAAATGGGACAAAGTGGACCCCGCAGAACTGTTCAGCCAAGCTCCCACGGAGAAGAAAGAAGCTAACCCCAAGCTGAACATGGTGAAGTTCCTGCAGGTGGAG
GGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTTCTTGATGCTGTTCTGCCCGTCATGAACAAGGCC
CATGGTGGCGAGAAGACCGTGTTCCGGGCCAGGTTTAGCTCCATCACGGACACAGACATCTGTAATGCCATGGCCTGCCTAGGCGAGCCTGACCACAACGAGGCG
CTCTCAGTGGATGCTCGCCAGGAGCTGGACCTGCGAATCGGCTGTGCATTCACCAGGTTTCAGACTAAATATTTCCAGGGGAAATACGGTGATTTAGACAGCTCT
CTCATCTCCTTTGGGCCGTGTCAGACTCCAACCCTGGGATTCTGTGTGGAGAGACATGATAAAATCCAGTCCTTCAAACCAGAGACCTACTGGGTGCTGCAGGCC
AAGGTTAACACTGACAAAGACAGATCTCTCCTTTTGGACTGGGACCGAGTAAGAGTGTTTGACCGGGAGATCGCACAGATGTTTTTAAACATGACAAAGCTGGAG
AAGGAAGCCCAGGTGGAGGCCACAAGCAGGAAAGAAAAGGCCAAGCAGAGGCCCCTGGCCCTGAACACTGTGGAGATGCTGCGTGTGGCCAGCTCTTCTCTGGGC
ATGGGGCCGCAGCACGCCATGCAGACGGCTGAGCGGCTCTACACGCAAGGCTACATCAGCTACCCACGGACAGAGACCACCCACTACCCTGAGAACTTTGACCTG
AAGGGCTCTCTGCGGCAGCAGGCCAACCACCCCTACTGGGCCGACACGGTGAAGCGGTTGTTAGCAGAAGGTATCAACCGCCCGCGGAAAGGCCATGACGCCGGC
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ATGAAGACTGTGCTCATGGTTGCTGAAAAGCCGTCCTTGGCACAGTCAATTGCCAAAATCCTCTCTAGAGGGAGCCTGTCCTCACACAAAGGGCTGAACGGGGCC
TGCTCAGTCCACGAGTACACTGGGACCTTTGCTGGCCAGCCAGTGCGCTTCAAGATGACGTCTGTCTGTGGTCACGTGATGACCCTGGATTTCCTGGGAAAATAC
AACAAATGGGACAAAGTGGACCCCGCAGAACTGTTCAGCCAAGCTCCCACGGAGAAGAAAGAAGCTAACCCCAAGCTGAACATGGTGAAGTTCCTGCAGGTGGAG
GGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTTCTTGATGCTGTTCTGCCCGTCATGAACAAGGCC
CATGGTGGCGAGAAGACCGTGTTCCGGGCCAGGTTTAGCTCCATCACGGACACAGACATCTGTAATGCCATGGCCTGCCTAGGCGAGCCTGACCACAACGAGGCG
CTCTCAGTGGATGCTCGCCAGGAGCTGGACCTGCGAATCGGCTGTGCATTCACCAGGTTTCAGACTAAATATTTCCAGGGGAAATACGGTGATTTAGACAGCTCT
CTCATCTCCTTTGGGCCGTGTCAGACTCCAACCCTGGGATTCTGTGTGGAGAGACATGATAAAATCCAGTCCTTCAAACCAGAGACCTACTGGGTGCTGCAGGCC
AAGGTTAACACTGACAAAGACAGATCTCTCCTTTTGGACTGGGACCGAGTAAGAGTGTTTGACCGGGAGATCGCACAGATGTTTTTAAACATGACAAAGCTGGAG
AAGGAAGCCCAGGTGGAGGCCACAAGCAGGAAAGAAAAGGCCAAGCAGAGGCCCCTGGCCCTGAACACTGTGGAGATGCTGCGTGTGGCCAGCTCTTCTCTGGGC
ATGGGGCCGCAGCACGCCATGCAGACGGCTGAGCGGCTCTACACGCAAGGCTACATCAGCTACCCACGGACAGAGACCACCCACTACCCTGAGAACTTTGACCTG
AAGGGCTCTCTGCGGCAGCAGGCCAACCACCCCTACTGGGCCGACACGGTGAAGCGGTTGTTAGCAGAAGGTATCAACCGCCCGCGGAAAGGCCATGACGCCGGC
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>TOP3B|8940|protein
MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVE
GRGCDYIVLWLDCDKEGENICFEVLDAVLPVMNKAHGGEKTVFRARFSSITDTDICNAMACLGEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSS
LISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAKVNTDKDRSLLLDWDRVRVFDREIAQMFLNMTKLEKEAQVEATSRKEKAKQRPLALNTVEMLRVASSSLG
MGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADTVKRLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATV
SHDCKYLQSTISFRIGPELFTCSGKTVLSPGFTEVMPWQSVPLEESLPTCQRGDAFPVGEVKMLEKQTNPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRN
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MKTVLMVAEKPSLAQSIAKILSRGSLSSHKGLNGACSVHEYTGTFAGQPVRFKMTSVCGHVMTLDFLGKYNKWDKVDPAELFSQAPTEKKEANPKLNMVKFLQVE
GRGCDYIVLWLDCDKEGENICFEVLDAVLPVMNKAHGGEKTVFRARFSSITDTDICNAMACLGEPDHNEALSVDARQELDLRIGCAFTRFQTKYFQGKYGDLDSS
LISFGPCQTPTLGFCVERHDKIQSFKPETYWVLQAKVNTDKDRSLLLDWDRVRVFDREIAQMFLNMTKLEKEAQVEATSRKEKAKQRPLALNTVEMLRVASSSLG
MGPQHAMQTAERLYTQGYISYPRTETTHYPENFDLKGSLRQQANHPYWADTVKRLLAEGINRPRKGHDAGDHPPITPMKSATEAELGGDAWRLYEYITRHFIATV
SHDCKYLQSTISFRIGPELFTCSGKTVLSPGFTEVMPWQSVPLEESLPTCQRGDAFPVGEVKMLEKQTNPPDYLTEAELITLMEKHGIGTDASIPVHINNICQRN
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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) | 2 (8) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 14 (10) |
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 | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Breckpot J, 2016 | - | array CGH | | | autistic | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow 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 |
|---|---|---|---|---|
| Iossifov I, 2012 | - | 343 | 50 | De novo gene disruptions in children on the autistic spectrum. |
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to 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.