AutismKB 2.0

Evidence Details for FBXL5


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Basic Information Top
Gene Symbol:FBXL5 ( FBL4,FBL5,FLR1 )
Gene Full Name: F-box and leucine-rich repeat protein 5
Band: 4p15.32
Quick LinksEntrez ID:26234; OMIM: 605655; Uniprot ID:FBXL5_HUMAN; ENSEMBL ID: ENSG00000118564; HGNC ID: 13602
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBXL5|26234|nucleotide
ATGGCGCCCTTTCCTGAAGAAGTGGACGTCTTCACCGCCCCACACTGGCGGATGAAGCAGCTGGTGGGGCTCTACTGCGACAAGCTTTCTAAAACCAATTTTTCC
AACAACAACGATTTCCGTGCTCTTCTGCAGTCTTTGTATGCTACTTTCAAGGAGTTCAAAATGCATGAGCAGATTGAAAATGAATACATTATTGGTTTGCTTCAA
CAACGCAGCCAGACCATTTATAATGTACATTCTGACAATAAACTCTCCGAGATGCTTAGCCTCTTTGAAAAGGGACTGAAGAATGTTAAGAATGAATATGAACAG
TTAAATTATGCAAAACAACTGAAAGAGAGATTGGAGGCTTTTACAAGAGATTTTCTTCCTCACATGAAAGAGGAAGAGGAGGTTTTTCAGCCCATGTTAATGGAA
TATTTTACCTATGAAGAGCTTAAGGATATTAAAAAGAAAGTGATTGCACAACACTGCTCTCAGAAGGATACTGCAGAACTCCTTAGAGGTCTTAGCCTATGGAAT
CATGCTGAAGAGCGACAGAAGTTTTTTAAATATTCCGTGGATGAAAAGTCAGATAAAGCAGAAGTGTCAGAACACTCCACAGGTATAACCCATCTTCCTCCTGAG
GTAATGCTGTCAATTTTCAGCTATCTTAATCCTCAAGAGTTATGTCGATGCAGTCAAGTAAGCATGAAATGGTCTCAGCTGACAAAAACGGGATCGCTTTGGAAA
CATCTTTACCCTGTTCATTGGGCCAGAGGTGACTGGTATAGTGGTCCCGCAACTGAACTTGATACTGAACCTGATGATGAATGGGTGAAAAATAGGAAAGATGAA
AGTCGTGCTTTTCATGAGTGGGATGAAGATGCTGACATTGATGAATCTGAAGAGTCTGCGGAGGAATCAATTGCTATCAGCATTGCACAAATGGAAAAACGTTTA
CTCCATGGCTTAATTCATAACGTTCTACCATATGTTGGTACTTCTGTAAAAACCTTAGTATTAGCATACAGCTCTGCAGTTTCCAGCAAAATGGTTAGGCAGATT
TTAGAGCTTTGTCCTAACCTGGAGCATCTGGATCTTACCCAGACTGACATTTCAGATTCTGCATTTGACAGTTGGTCTTGGCTTGGTTGCTGCCAGAGTCTTCGG
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>FBXL5|26234|protein
MAPFPEEVDVFTAPHWRMKQLVGLYCDKLSKTNFSNNNDFRALLQSLYATFKEFKMHEQIENEYIIGLLQQRSQTIYNVHSDNKLSEMLSLFEKGLKNVKNEYEQ
LNYAKQLKERLEAFTRDFLPHMKEEEEVFQPMLMEYFTYEELKDIKKKVIAQHCSQKDTAELLRGLSLWNHAEERQKFFKYSVDEKSDKAEVSEHSTGITHLPPE
VMLSIFSYLNPQELCRCSQVSMKWSQLTKTGSLWKHLYPVHWARGDWYSGPATELDTEPDDEWVKNRKDESRAFHEWDEDADIDESEESAEESIAISIAQMEKRL
LHGLIHNVLPYVGTSVKTLVLAYSSAVSSKMVRQILELCPNLEHLDLTQTDISDSAFDSWSWLGCCQSLRHLDLSGCEKITDVALEKISRALGILTSHQSGFLKT
STSKITSTAWKNKDITMQSTKQYACLHDLTNKGIGEEIDNEHPWTKPVSSENFTSPYVWMLDAEDLADIEDTVEWRHRNVESLCVMETASNFSCSTSGCFSKDIV
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top