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