AutismKB 2.0

Evidence Details for TOPBP1


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Basic Information Top
Gene Symbol:TOPBP1 ( TOP2BP1 )
Gene Full Name: topoisomerase (DNA) II binding protein 1
Band: 3q22.1
Quick LinksEntrez ID:11073; OMIM: 607760; Uniprot ID:TOPB1_HUMAN; ENSEMBL ID: ENSG00000163781; HGNC ID: 17008
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TOPBP1|11073|nucleotide
ATGTCCAGAAATGACAAAGAACCGTTTTTTGTGAAGTTTTTAAAGTCTTCAGACAATTCCAAATGTTTTTTTAAAGCTCTCGAGTCCATAAAAGAATTCCAATCA
GAAGAATATCTTCAGATTATTACAGAAGAAGAGGCATTGAAGATAAAGGAGAATGATAGATCACTTTATATCTGTGACCCTTTTAGTGGCGTTGTCTTTGATCAC
CTCAAAAAGCTTGGCTGCAGAATTGTTGGTCCTCAAGTAGTCATATTTTGTATGCACCACCAGCGATGTGTCCCAAGAGCCGAACATCCAGTTTATAATATGGTT
ATGTCTGATGTAACCATATCTTGTACAAGTCTGGAAAAAGAAAAAAGGGAAGAAGTTCATAAATATGTACAAATGATGGGCGGACGAGTATACAGAGACCTTAAT
GTATCAGTAACTCACCTTATTGCAGGAGAAGTTGGTAGCAAAAAATATTTAGTTGCTGCAAACCTGAAGAAACCTATTTTGCTTCCCTCTTGGATAAAAACACTT
TGGGAGAAGTCACAAGAGAAAAAAATAACTAGATATACTGATATAAACATGGAAGATTTCAAGTGTCCTATTTTTCTTGGTTGCATAATCTGTGTGACTGGCTTA
TGTGGCTTAGACAGGAAAGAAGTTCAGCAACTCACAGTTAAGCATGGAGGTCAATACATGGGACAATTGAAAATGAATGAATGTACACACCTCATTGTGCAAGAA
CCAAAAGGTCAGAAGTATGAGTGTGCCAAGAGATGGAATGTACACTGTGTGACCACACAGTGGTTTTTTGACAGTATTGAGAAAGGTTTTTGTCAGGATGAATCC
ATATACAAGACAGAACCTAGACCAGAAGCAAAGACTATGCCCAATTCTTCAACTCCTACCAGCCAGATCAACACAATTGATAGTCGTACTCTTTCAGATGTCAGC
AATATTTCCAACATAAATGCAAGTTGCGTAAGTGAATCAATATGTAATTCACTTAACAGCAAACTGGAGCCTACACTTGAAAATCTAGAAAATCTGGATGTCAGT
GCATTTCAAGCACCTGAAGATTTATTAGATGGTTGTCGGATATATCTTTGCGGTTTTAGTGGCAGAAAGCTAGATAAACTGAGAAGACTTATTAACAGTGGAGGT
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>TOPBP1|11073|protein
MSRNDKEPFFVKFLKSSDNSKCFFKALESIKEFQSEEYLQIITEEEALKIKENDRSLYICDPFSGVVFDHLKKLGCRIVGPQVVIFCMHHQRCVPRAEHPVYNMV
MSDVTISCTSLEKEKREEVHKYVQMMGGRVYRDLNVSVTHLIAGEVGSKKYLVAANLKKPILLPSWIKTLWEKSQEKKITRYTDINMEDFKCPIFLGCIICVTGL
CGLDRKEVQQLTVKHGGQYMGQLKMNECTHLIVQEPKGQKYECAKRWNVHCVTTQWFFDSIEKGFCQDESIYKTEPRPEAKTMPNSSTPTSQINTIDSRTLSDVS
NISNINASCVSESICNSLNSKLEPTLENLENLDVSAFQAPEDLLDGCRIYLCGFSGRKLDKLRRLINSGGGVRFNQLNEDVTHVIVGDYDDELKQFWNKSAHRPH
VVGAKWLLECFSKGYMLSEEPYIHANYQPVEIPVSHKPESKAALLKKKNSSFSKKDFAPSEKHEQADEDLLSQYENGSSTVVEAKTSEARPFNDSTHAEPLNDST
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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