AutismKB 2.0

Evidence Details for FBXL20


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Basic Information Top
Gene Symbol:FBXL20 ( DKFZp564O2364,FLJ21037,Fbl2,Fbl20,MGC15482 )
Gene Full Name: F-box and leucine-rich repeat protein 20
Band: 17q12
Quick LinksEntrez ID:84961; OMIM: 609086; Uniprot ID:FXL20_HUMAN; ENSEMBL ID: ENSG00000108306; HGNC ID: 24679
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBXL20|84961|nucleotide
ATGAGGAGGGACGTGAACGGAGTGACCAAGAGCAGGTTTGAGATGTTCTCAAATAGTGATGAAGCTGTAATCAATAAAAAACTTCCCAAAGAACTCCTGTTACGG
ATATTTTCTTTTCTAGATGTTGTTACCCTGTGCCGCTGTGCTCAGGTCTCCAGGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTA
TTTGATTTCCAGAGGGATATTGAGGGCCGAGTAGTGGAGAATATTTCAAAACGATGTGGGGGCTTTTTACGAAAGTTAAGTCTTCGTGGATGTCTTGGAGTGGGA
GACAATGCATTAAGAACCTTTGCACAAAACTGCAGGAACATTGAAGTACTGAATCTAAATGGGTGTACAAAGACAACAGACGCTGAGGGATGTCCACTGTTGGAG
CAGTTGAACATTTCCTGGTGTGACCAAGTAACCAAGGATGGCATTCAAGCACTAGTGAGGGGCTGTGGGGGTCTCAAGGCCTTATTCTTAAAAGGCTGCACGCAG
CTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGCAAATCACAGATGAAGGTCTCATTACTATA
TGCAGAGGGTGCCATAAGTTACAATCCCTTTGTGCCTCTGGCTGCTCCAACATCACAGATGCCATCCTGAATGCTCTAGGTCAGAACTGCCCACGGCTTAGAATA
TTGGAAGTGGCAAGATGTTCTCAATTAACAGATGTGGGCTTTACCACTCTAGCCAGGAATTGCCATGAACTTGAAAAGATGGACCTGGAAGAGTGTGTTCAGATA
ACAGATAGCACATTAATCCAACTTTCTATACACTGTCCTCGACTTCAAGTATTGAGTCTGTCTCACTGTGAGCTGATCACAGATGATGGAATTCGTCACCTGGGG
AATGGGGCCTGCGCCCATGACCAGCTGGAGGTGATTGAGCTGGACAACTGCCCACTAATCACAGATGCATCCCTGGAGCACTTGAAGAGCTGTCATAGCCTTGAG
CGGATAGAACTCTATGACTGCCAGCAAATCACACGGGCTGGAATCAAGAGACTCAGGACCCATTTACCCAATATTAAAGTCCACGCCTACTTCGCACCTGTCACT
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>FBXL20|84961|protein
MRRDVNGVTKSRFEMFSNSDEAVINKKLPKELLLRIFSFLDVVTLCRCAQVSRAWNVLALDGSNWQRIDLFDFQRDIEGRVVENISKRCGGFLRKLSLRGCLGVG
DNALRTFAQNCRNIEVLNLNGCTKTTDAEGCPLLEQLNISWCDQVTKDGIQALVRGCGGLKALFLKGCTQLEDEALKYIGAHCPELVTLNLQTCLQITDEGLITI
CRGCHKLQSLCASGCSNITDAILNALGQNCPRLRILEVARCSQLTDVGFTTLARNCHELEKMDLEECVQITDSTLIQLSIHCPRLQVLSLSHCELITDDGIRHLG
NGACAHDQLEVIELDNCPLITDASLEHLKSCHSLERIELYDCQQITRAGIKRLRTHLPNIKVHAYFAPVTPPPSVGGSRQRFCRCCIIL

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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

Simple Query:


  (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