AutismKB 2.0

Evidence Details for FBXL14


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Basic Information Top
Gene Symbol:FBXL14 ( Fbl14,MGC40195 )
Gene Full Name: F-box and leucine-rich repeat protein 14
Band: 12p13.33
Quick LinksEntrez ID:144699; OMIM: 609081; Uniprot ID:FXL14_HUMAN; ENSEMBL ID: ENSG00000171823; HGNC ID: 28624
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBXL14|144699|nucleotide
ATGGAGACCCACATCTCATGCCTGTTCCCGGAGCTGCTGGCCATGATCTTCGGCTACCTGGACGTCCGGGACAAGGGGCGCGCGGCGCAGGTGTGCACCGCCTGG
CGGGACGCCGCCTACCACAAGTCGGTGTGGCGGGGGGTGGAGGCCAAGCTGCACCTGCGCCGGGCCAACCCGTCGCTGTTCCCCAGCCTGCAGGCCCGGGGCATC
CGCCGGGTGCAGATCCTGAGCCTCCGCCGCAGCCTCAGCTACGTGATCCAGGGCATGGCCAACATCGAGAGCCTCAACCTCAGCGGCTGCTACAACCTCACCGAC
AACGGGCTGGGCCACGCGTTTGTGCAGGAGATCGGCTCCCTGCGCGCTCTCAACCTGAGCCTCTGCAAGCAGATCACTGACAGCAGCCTGGGCCGCATAGCCCAG
TACCTCAAGGGCCTGGAGGTGCTGGAGCTGGGAGGTTGCAGCAACATCACCAACACTGGCCTTCTGCTCATCGCCTGGGGTCTGCAGCGCCTCAAGAGCCTTAAC
CTCCGCAGCTGCCGCCACCTTTCGGATGTGGGCATCGGGCACCTGGCCGGCATGACGCGCAGCGCGGCGGAGGGCTGCCTGGGCCTGGAGCAGCTCACGCTACAG
GACTGCCAGAAGCTCACAGATCTTTCTCTAAAGCACATCTCCCGAGGGCTGACGGGCCTGAGGCTCCTCAACCTCAGCTTCTGTGGGGGAATCTCGGACGCTGGC
CTCCTGCACCTGTCGCACATGGGCAGCCTGCGCAGCCTCAACCTGCGCTCCTGTGACAACATCAGTGACACGGGCATCATGCATCTGGCCATGGGCAGCCTGCGC
CTCTCGGGGCTGGATGTTTCGTTCTGTGACAAGGTGGGAGACCAGAGTCTGGCTTACATAGCCCAGGGGCTGGATGGCCTCAAGTCTCTCTCCCTCTGCTCCTGC
CACATCAGTGATGATGGCATCAACCGCATGGTGCGGCAGATGCACGGGCTGCGCACGCTCAACATTGGACAGTGTGTGCGCATCACGGACAAGGGCCTGGAGCTG
ATCGCTGAGCACCTGAGCCAACTCACCGGCATAGACCTGTACGGCTGCACCCGAATCACCAAGCGCGGCCTGGAGCGCATCACGCAGCTGCCGTGCCTCAAGGTA
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>FBXL14|144699|protein
METHISCLFPELLAMIFGYLDVRDKGRAAQVCTAWRDAAYHKSVWRGVEAKLHLRRANPSLFPSLQARGIRRVQILSLRRSLSYVIQGMANIESLNLSGCYNLTD
NGLGHAFVQEIGSLRALNLSLCKQITDSSLGRIAQYLKGLEVLELGGCSNITNTGLLLIAWGLQRLKSLNLRSCRHLSDVGIGHLAGMTRSAAEGCLGLEQLTLQ
DCQKLTDLSLKHISRGLTGLRLLNLSFCGGISDAGLLHLSHMGSLRSLNLRSCDNISDTGIMHLAMGSLRLSGLDVSFCDKVGDQSLAYIAQGLDGLKSLSLCSC
HISDDGINRMVRQMHGLRTLNIGQCVRITDKGLELIAEHLSQLTGIDLYGCTRITKRGLERITQLPCLKVLNLGLWQMTDSEKEARGDFSPLFTVRTRGSSRR

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Silva IM, 2014 - aCGH;FISHASD - - - - 1 - 1
Linkage Studies Top