AutismKB 2.0

Evidence Details for TOPORS


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TOPORS ( LUN,P53BP3,RP31,TP53BPL )
Gene Full Name: topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
Band: 9p21.1
Quick LinksEntrez ID:10210; OMIM: 609507; Uniprot ID:TOPRS_HUMAN; ENSEMBL ID: ENSG00000197579; HGNC ID: 21653
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TOPORS|10210|nucleotide
ATGATAATGGCATCAGCTGCTAAGGAATTTAAAATGGACAACTTTTCACCTAAAGCTGGCACTAGCAAATTGCAACAGACAGTACCAGCTGATGCATCTCCTGAT
TCTAAGTGTCCTATATGCTTGGATAGATTTGATAATGTGTCTTACTTAGATCGCTGCTTACATAAGTTCTGTTTTCGCTGTGTACAGGAGTGGTCAAAAAACAAA
GCTGAATGCCCACTATGTAAACAGCCCTTTGATTCTATTTTCCATTCTGTGAGGGCAGAAGATGACTTCAAGGAGTATGTCCTAAGGCCTTCGTATAATGGTTCT
TTTGTCACCCCTGATCGACGATTTCGCTACCGTACAACTCTGACAAGGGAACGAAATGCTTCTGTGTATTCACCTAGTGGTCCTGTGAACAGAAGAACAACAACT
CCACCGGATAGTGGAGTACTGTTTGAAGGGTTAGGCATTTCAACAAGACCTAGAGATGTTGAAATTCCTCAGTTTATGAGACAGATTGCAGTAAGGAGGCCAACT
ACGGCAGATGAAAGATCTTTGCGGAAAATTCAAGAACAAGATATTATTAATTTTAGACGAACTCTTTATCGTGCTGGTGCTCGAGTTAGAAATATTGAAGATGGT
GGCCGCTACAGGGATATTTCAGCTGAATTTTTCCGTAGAAATCCAGCTTGCCTTCACAGATTAGTCCCCTGGTTAAAACGTGAACTTACAGTTCTTTTTGGAGCT
CATGGATCTTTAGTGAATATTGTCCAGCATATTATCATGAGTAATGTTACTCGCTATGACTTGGAGAGTCAGGCATTTGTGTCTGATTTAAGACCATTTTTACTT
AATCGAACTGAGCATTTTATACATGAATTTATCAGTTTTGCCCGATCTCCTTTTAACATGGCAGCCTTTGACCAGCATGCCAATTATGATTGCCCTGCTCCTTCA
TACGAAGAAGGCAGCCATTCTGATTCTTCAGTCATAACAATATCTCCAGATGAGGCTGAGACCCAAGAGCTGGATATTAATGTAGCCACTGTTAGTCAGGCACCA
TGGGATGATGAAACTCCAGGACCATCTTACTCAAGCTCAGAGCAGGTACACGTTACTATGTCTTCTCTTTTAAATACTTCTGACAGTTCAGATGAAGAACTTGTC
Show »

>TOPORS|10210|protein
MIMASAAKEFKMDNFSPKAGTSKLQQTVPADASPDSKCPICLDRFDNVSYLDRCLHKFCFRCVQEWSKNKAECPLCKQPFDSIFHSVRAEDDFKEYVLRPSYNGS
FVTPDRRFRYRTTLTRERNASVYSPSGPVNRRTTTPPDSGVLFEGLGISTRPRDVEIPQFMRQIAVRRPTTADERSLRKIQEQDIINFRRTLYRAGARVRNIEDG
GRYRDISAEFFRRNPACLHRLVPWLKRELTVLFGAHGSLVNIVQHIIMSNVTRYDLESQAFVSDLRPFLLNRTEHFIHEFISFARSPFNMAAFDQHANYDCPAPS
YEEGSHSDSSVITISPDEAETQELDINVATVSQAPWDDETPGPSYSSSEQVHVTMSSLLNTSDSSDEELVTGGATSQIQGVQTNDDLNNDSDDSSDNCVIVGFVK
PLAERTPELVELSSDSEDLGSYEKMETVKTQEQEQSYSSGDSDVSRCSSPHSVLGKDEQINKGHCDSSTRIKSKKEEKRSTSLSSPRNLNSSVRGDRVYSPYNHR
Show »

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 (2) 0 (0) 0 (1) 0 (0) 0 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top