AutismKB 2.0

Evidence Details for FBXO40


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Basic Information Top
Gene Symbol:FBXO40 ( FBX40,KIAA1195,MGC129902,MGC129903 )
Gene Full Name: F-box protein 40
Band: 3q13.33
Quick LinksEntrez ID:51725; OMIM: 609107; Uniprot ID:FBX40_HUMAN; ENSEMBL ID: ENSG00000163833; HGNC ID: 29816
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBXO40|51725|nucleotide
ATGGGGAAAGCCCGCAGATCCCCGCCAGGGCACCACAGGCATTGTGAGGGATGCTTCAACCGCCACTGCCACATTCCTGTGGAACCCAACACCTCCTGCCTGGTA
ATAAGCTGCCACCTGCTCTGTGGTGCCACCTTCCACATGTGCAAAGAGGCAGAGCACCAGCTCCTCTGCCCTTTAGAGCAGGTTCCGTGCCTCAACTCCGAATAT
GGCTGCCCTCTGTCCATGTCCCGCCACAAACTGGCCAAGCACCTGCAGGTGTGCCCCGCCAGCGTGGTCTGCTGCTCCATGGAGTGGAACCGCTGGCCAAATGTG
GACTCTGAAACCACCCTTCATGAAAACATCATGAAAGAGACCCCCAGTGAGGAGTGTTTGGACACAGCCCTGGCCCTGCAGGATCAGAAGGTCCTCTTCAGATCC
TTGAAAATGGTGGAACTTTTCCCAGAAACTAGAGAGGCTACTGAGGAGGAACCAACTATGAATGGTGAAACCAGTGTGGAGGAAATGGGAGGAGCAGTGGGTGGA
GTGGATATCGGTTTGGTACCACATGGTCTGTCAGCAACTAATGGGGAGATGGCAGAGCTAAGTCAAGAAGAACGGGAGGTGCTAGCCAAAACCAAAGAAGGGATG
GACCTGGTCAAGTTTGGCCAGTGGGAAAATATTTTCAGCAAAGAGCACGCAGCCTCTGCTTTAACAAATTCATCAGCGAGCTGTGAGAGCAAGAACAAGAATGAC
TCCGAGAAAGAACAGATTTCCAGTGGCCATAACATGGTAGAAGGAGAGGGCGCTCCCAAAAAGAAAGAACCACAGGAAAATCAGAAGCAGCAGGACGTTCGTACA
GCCATGGAAACCACAGGGCTTGCCCCTTGGCAGGATGGTGTTCTGGAAAGACTGAAAACAGCTGTGGATGCAAAGGACTATAACATGTATCTAGTGCACAATGGG
CGGATGCTGATACACTTTGGTCAGATGCCTGCTTGTACACCCAAGGAGAGAGACTTTGTTTATGGCAAGCTGGAGGCTCAGGAAGTTAAGACTGTTTACACCTTC
AAAGTTCCTGTGAGCTACTGTGGAAAGCGAGCTCGACTTGGAGATGCCATGTTGAGTTGTAAGCCAAGTGAACACAAGGCAGTGGATACTTCAGATTTGGGGATC
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>FBXO40|51725|protein
MGKARRSPPGHHRHCEGCFNRHCHIPVEPNTSCLVISCHLLCGATFHMCKEAEHQLLCPLEQVPCLNSEYGCPLSMSRHKLAKHLQVCPASVVCCSMEWNRWPNV
DSETTLHENIMKETPSEECLDTALALQDQKVLFRSLKMVELFPETREATEEEPTMNGETSVEEMGGAVGGVDIGLVPHGLSATNGEMAELSQEEREVLAKTKEGM
DLVKFGQWENIFSKEHAASALTNSSASCESKNKNDSEKEQISSGHNMVEGEGAPKKKEPQENQKQQDVRTAMETTGLAPWQDGVLERLKTAVDAKDYNMYLVHNG
RMLIHFGQMPACTPKERDFVYGKLEAQEVKTVYTFKVPVSYCGKRARLGDAMLSCKPSEHKAVDTSDLGITVEDLPKSDLIKTTLQCALERELKGHVISESRSID
GLFMDFATQTYNFEPEQFSSGTVLADLTAATPGGLHVELHSECVTRRHNKSSSAFTFTCNKFFRRDEFPLHFKNVHTDIQSCLNGWFQHRCPLAYLGCTFVQNHF
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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 (0) 0 (0) 0 (1) 0 (0) 0 (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
Glessner, 2009 - SNP microarrayASD - - - - 2195 2519 4714
Linkage Studies Top