AutismKB 2.0

Evidence Details for FBXO24


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Basic Information Top
Gene Symbol:FBXO24 ( DKFZp434I1122,FBX24 )
Gene Full Name: F-box protein 24
Band: 7q22.1
Quick LinksEntrez ID:26261; OMIM: 609097; Uniprot ID:FBX24_HUMAN; ENSEMBL ID: ENSG00000106336; HGNC ID: 13595
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBXO24|26261|nucleotide
ATGGTGAAGAGAAGCTGCCCTTCTTGTGGCTCGGAGCTTGGGGTTGAAGAGAAGAGGGGGAAAGGAAATCCGATTTCCATCCAGTTGTTCCCCCCAGAGCTGGTG
GAGCATATCATCTCATTCCTCCCAGTCAGAGACCTTGTTGCCCTCGGCCAGACCTGCCGCTACTTCCACGAAGTGTGCGATGGGGAAGGCGTGTGGAGACGCATC
TGTCGCAGACTCAGTCCGCGCCTCCAAGATCAGGGTTCTGGAGTCCGGCCCTGGAAGAGAGCTGCCATTCTGAACTACACGAAGGGCCTGTATTTCCAGGCATTT
GGAGGCCGCCGCCGATGTCTCAGCAAGAGCGTGGCCCCCTTGCTAGCCCACGGCTACCGCCGCTTCTTGCCCACCAAGGATCACGTCTTCATTCTTGACTACGTG
GGGACCCTCTTCTTCCTCAAAAATGCCCTGGTCTCCACCCTCGGCCAGATGCAGTGGAAGCGGGCCTGTCGCTATGTTGTGTTGTGTCGTGGAGCCAAGGATTTT
GCCTCGGACCCAAGGTGTGACACAGTTTACCGTAAATACCTCTACGTCTTGGCCACTCGGGAGCCGCAGGAAGTGGTGGGTACCACCAGCAGCCGGGCCTGTGAC
TGTGTTGAGGTCTATCTGCAGTCTAGTGGGCAGCGGGTCTTCAAGATGACATTCCACCACTCAATGACCTTCAAGCAGATCGTGCTGGTTGGTCAGGAGACCCAG
CGGGCTCTACTGCTCCTCACAGAGGAAGGAAAGATCTACTCTTTGGTAGTGAATGAGACCCAGCTTGACCAGCCACGCTCCTACACGGTTCAGCTGGCCCTGAGG
AAGGTGTCCCACTACCTGCCTCACCTGCGCGTGGCCTGCATGACTTCCAACCAGAGCAGCACCCTCTACGTCACAGACCAGGGGGGAGTGTATTTTGAGGTGCAT
ACCCCAGGGGTGTATCGCGATCTCTTTGGGACCCTTCAAGCCTTTGACCCCCTGGACCAGCAGATGCCGCTTGCTCTCTCACTGCCTGCCAAGATCCTATTCTGT
GCTCTTGGCTACAACCACCTTGGCCTGGTGGATGAATTTGGCCGAATCTTCATGCAAGGAAATAACAGATACGGGCAGCTAGGAACAGGGGACAAAATGGACCGA
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>FBXO24|26261|protein
MVKRSCPSCGSELGVEEKRGKGNPISIQLFPPELVEHIISFLPVRDLVALGQTCRYFHEVCDGEGVWRRICRRLSPRLQDQGSGVRPWKRAAILNYTKGLYFQAF
GGRRRCLSKSVAPLLAHGYRRFLPTKDHVFILDYVGTLFFLKNALVSTLGQMQWKRACRYVVLCRGAKDFASDPRCDTVYRKYLYVLATREPQEVVGTTSSRACD
CVEVYLQSSGQRVFKMTFHHSMTFKQIVLVGQETQRALLLLTEEGKIYSLVVNETQLDQPRSYTVQLALRKVSHYLPHLRVACMTSNQSSTLYVTDQGGVYFEVH
TPGVYRDLFGTLQAFDPLDQQMPLALSLPAKILFCALGYNHLGLVDEFGRIFMQGNNRYGQLGTGDKMDRGEPTQVCYLQRPITLWCGLNHSLVLSQSSEFSKEL
LGCGCGAGGRLPGWPKGSASFVKLQVKVPLCACALCATRECLYILSSHDIEQHAPYRHLPASRVVGTPEPSLGARAPQDPGGMAQACEEYLSQIHSCQTLQDRTE
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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 1 (3) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 6 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Maestrini, 2009_3 Replication the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms 390 390
(-)
ASD -
-
-
-
Maestrini, 2009_2 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127 127
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Maestrini, 2009_5 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127
(20.47%)
ASD -
-
- 188
(21.28%)
-
-
CNV Studies Top
Linkage Studies Top