AutismKB 2.0

Evidence Details for TOP2B


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Basic Information Top
Gene Symbol:TOP2B ( TOPIIB,top2beta )
Gene Full Name: topoisomerase (DNA) II beta 180kDa
Band: 3p24.2
Quick LinksEntrez ID:7155; OMIM: 126431; Uniprot ID:TOP2B_HUMAN; ENSEMBL ID: ENSG00000077097; HGNC ID: 11990
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TOP2B|7155|nucleotide
ATGGCCAAGTCGGGTGGCTGCGGCGCGGGAGCCGGCGTGGGCGGCGGCAACGGGGCACTGACCTGGGTGAACAATGCTGCAAAAAAAGAAGAGTCAGAAACTGCC
AACAAAAATGATTCTTCAAAGAAGTTGTCTGTTGAGAGAGTGTATCAGAAGAAGACACAACTTGAACACATTCTTCTTCGTCCTGATACATATATTGGGTCAGTG
GAGCCATTGACGCAGTTCATGTGGGTGTATGATGAAGATGTAGGAATGAATTGCAGGGAGGTTACCTTTGTGCCAGGTTTATACAAGATCTTTGATGAAATTTTG
GTTAATGCTGCTGACAATAAACAGAGGGATAAGAACATGACTTGTATTAAAGTTTCTATTGATCCTGAATCTAACATTATAAGCATTTGGAATAATGGGAAAGGC
ATTCCAGTAGTAGAACACAAGGTAGAGAAAGTTTATGTTCCTGCTTTAATTTTTGGACAGCTTTTAACATCCAGTAACTATGATGATGATGAGAAAAAAGTTACA
GGTGGTCGTAATGGTTATGGTGCAAAACTTTGTAATATTTTCAGTACAAAGTTTACAGTAGAAACAGCTTGCAAAGAATACAAACACAGTTTTAAGCAGACATGG
ATGAATAATATGATGAAGACTTCTGAAGCCAAAATTAAACATTTTGATGGTGAAGATTACACATGCATAACATTCCAACCAGATCTGTCCAAATTTAAGATGGAA
AAACTTGACAAGGATATTGTGGCCCTCATGACTAGAAGGGCATATGATTTGGCTGGTTCGTGTAGAGGGGTCAAGGTCATGTTTAATGGAAAGAAATTGCCTGTA
AATGGATTTCGCAGTTATGTAGATCTTTATGTGAAAGACAAATTGGATGAAACTGGGGTGGCCCTGAAAGTTATTCATGAGCTTGCAAATGAAAGATGGGATGTT
TGTCTCACATTGAGTGAAAAAGGATTCCAGCAAATCAGCTTTGTAAATAGTATTGCAACTACAAAAGGTGGACGGCACGTGGATTATGTGGTAGATCAAGTTGTT
GGTAAACTGATTGAAGTAGTTAAGAAAAAGAACAAAGCTGGTGTATCAGTGAAACCATTTCAAGTAAAAAACCATATATGGGTTTTTATTAATTGCCTTATTGAA
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>TOP2B|7155|protein
MAKSGGCGAGAGVGGGNGALTWVNNAAKKEESETANKNDSSKKLSVERVYQKKTQLEHILLRPDTYIGSVEPLTQFMWVYDEDVGMNCREVTFVPGLYKIFDEIL
VNAADNKQRDKNMTCIKVSIDPESNIISIWNNGKGIPVVEHKVEKVYVPALIFGQLLTSSNYDDDEKKVTGGRNGYGAKLCNIFSTKFTVETACKEYKHSFKQTW
MNNMMKTSEAKIKHFDGEDYTCITFQPDLSKFKMEKLDKDIVALMTRRAYDLAGSCRGVKVMFNGKKLPVNGFRSYVDLYVKDKLDETGVALKVIHELANERWDV
CLTLSEKGFQQISFVNSIATTKGGRHVDYVVDQVVGKLIEVVKKKNKAGVSVKPFQVKNHIWVFINCLIENPTFDSQTKENMTLQPKSFGSKCQLSEKFFKAASN
CGIVESILNWVKFKAQTQLNKKCSSVKYSKIKGIPKLDDANDAGGKHSLECTLILTEGDSAKSLAVSGLGVIGRDRYGVFPLRGKILNVREASHKQIMENAEINN
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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.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018