AutismKB 2.0

Evidence Details for TOP1MT


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Basic Information Top
Gene Symbol:TOP1MT ( - )
Gene Full Name: topoisomerase (DNA) I, mitochondrial
Band: 8q24.3
Quick LinksEntrez ID:116447; OMIM: 606387; Uniprot ID:TOP1M_HUMAN; ENSEMBL ID: ENSG00000184428; HGNC ID: 29787
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TOP1MT|116447|nucleotide
ATGCGCGTGGTGCGGCTGCTGCGGCTCCGGGCGGCTCTGACGCTGCTCGGGGAGGTCCCCCGCCGCCCGGCCTCCCGGGGTGTCCCGGGCTCGCGCAGGACGCAG
AAGGGCAGTGGAGCCAGGTGGGAGAAGGAGAAGCACGAAGACGGGGTGAAGTGGAGACAGCTGGAGCACAAGGGCCCGTACTTCGCACCCCCATACGAGCCCCTT
CCCGACGGAGTGCGTTTCTTCTATGAAGGAAGGCCTGTGAGATTGAGCGTGGCAGCGGAGGAGGTCGCCACTTTTTATGGGAGGATGTTAGATCATGAATACACA
ACAAAGGAGGTTTTCCGGAAGAACTTCTTCAATGACTGGCGAAAGGAAATGGCGGTGGAAGAGAGGGAAGTCATCAAGAGCCTGGACAAGTGTGACTTCACGGAG
ATCCACAGATACTTTGTGGACAAGGCCGCAGCCCGGAAAGTCCTGAGCAGGGAGGAGAAGCAGAAGCTAAAAGAAGAGGCAGAAAAACTTCAGCAAGAGTTCGGC
TACTGTATTTTAGATGGTCACCAAGAAAAAATAGGCAACTTCAAGATTGAGCCGCCTGGCTTGTTCCGTGGCCGTGGCGACCATCCCAAGATGGGGATGCTGAAG
AGAAGGATCACGCCAGAGGATGTGGTTATCAACTGCAGCAGGGACTCGAAGATCCCCGAGCCGCCGGCGGGGCACCAGTGGAAGGAGGTGCGCTCCGATAACACC
GTCACGTGGCTGGCAGCTTGGACCGAGAGCGTTCAGAACTCCATCAAGTACATCATGCTGAACCCTTGCTCGAAGCTGAAGGGGGAGACAGCTTGGCAGAAGTTT
GAAACAGCTCGACGCCTGCGGGGATTTGTGGACGAGATCCGCTCCCAGTACCGGGCTGACTGGAAGTCTCGGGAAATGAAGACGAGACAGCGGGCGGTGGCCCTG
TATTTCATCGATAAGCTGGCACTGAGAGCAGGAAATGAGAAGGAGGACGGTGAGGCGGCCGACACCGTGGGCTGCTGTTCCCTCCGCGTGGAGCACGTCCAGCTG
CACCCGGAGGCCGATGGCTGCCAACACGTGGTGGAATTTGACTTCCTGGGGAAGGACTGCATCCGCTACTACAACAGAGTGCCGGTGGAGAAGCCGGTGTACAAG
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>TOP1MT|116447|protein
MRVVRLLRLRAALTLLGEVPRRPASRGVPGSRRTQKGSGARWEKEKHEDGVKWRQLEHKGPYFAPPYEPLPDGVRFFYEGRPVRLSVAAEEVATFYGRMLDHEYT
TKEVFRKNFFNDWRKEMAVEEREVIKSLDKCDFTEIHRYFVDKAAARKVLSREEKQKLKEEAEKLQQEFGYCILDGHQEKIGNFKIEPPGLFRGRGDHPKMGMLK
RRITPEDVVINCSRDSKIPEPPAGHQWKEVRSDNTVTWLAAWTESVQNSIKYIMLNPCSKLKGETAWQKFETARRLRGFVDEIRSQYRADWKSREMKTRQRAVAL
YFIDKLALRAGNEKEDGEAADTVGCCSLRVEHVQLHPEADGCQHVVEFDFLGKDCIRYYNRVPVEKPVYKNLQLFMENKDPRDDLFDRLTTTSLNKHLQELMDGL
TAKVFRTYNASITLQEQLRALTRAEDSIAAKILSYNRANRVVAILCNHQRATPSTFEKSMQNLQTKIQAKKEQVAEARAELRRARAEHKAQGDGKSRSVLEKKRR
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Evidence summary Top

Click 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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top