Evidence Details for FBXO33
Basic Information Top
Gene Symbol: | FBXO33 ( BMND12,Fbx33,c14_5247 ) |
---|---|
Gene Full Name: | F-box protein 33 |
Band: | 14q21.1 |
Quick Links | Entrez ID:254170; OMIM: 609103; Uniprot ID:FBX33_HUMAN; ENSEMBL ID: ENSG00000165355; HGNC ID: 19833 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>FBXO33|254170|nucleotide
ATGTTGTTGTTCTTGTCAGTGCCGCAGCCCCGACCGCCGGGAGCTCGAACCCGAGCCGGGGCCGCCCGGGTGGCGCGGTGGCGGCGGCTGCGGCTGCAGCAGCTG
CGACGGCTGCGGGGGCTGCTCCGGGTACTGCGGGGGCGGCCGGGAGCCGGCAGCCGGCGGCGGGGCCGGATGGCTCTGTGCGGGCAGGCGGCGGGCGCTGCGTCG
CTGCCCAGCGAGCTGATCGTGCACATCTTCTCTTTTCTGCCGGCGCCCGACCGGCTGCGGGCCTCGGCCTCCTGCTCGCACTGGCGTGAGTGCCTCTTCTATCCG
GCCCTGTGGCCCCAGCTCCGCATCTGCCTCCGCGTCTCGCCCGCGGAGCAGCCTCGGCTGGAATTCCTCATGCGCAAGTGCGGCTGGTTCGTGCGAGAGCTGCGT
GTTGAATTCGCCGCCGAGAACTATCTGAGCGGCGGTGGCCCAGGGGACGGAGGTGGCGCGGACACCGGGACTGGAGGGGAGGAAGTCGAGGCCCTGCAGCTCTCA
GCTCGTTGGCTGGAAGTGCTGCGCACCTACTTGGAGCTGGTGCTTTGCGTGCTGGTCAGCATCCGGAACAACAGGAACCTTCAGAAGTTTAGTCTTTTTGGAGAC
ATAAGTGTTCTACAACAGCAAGGAAGTTTGTCAAATACATACCTCAGCAAGGTGGACCCTGATGGCAAAAAAATTAAACAAATTCAGCAACTGTTTGAAGAAATC
CTGAGTAATAGTAGGCAACTGAAATGGCTGTCCTGTGGGTTTATGCTGGAAATAGTAACCCCAACATCACTGTCATCTCTCTCTAATGCTGTTGCCAACACCATG
GAGCACCTCAGTTTACTGGACAATAATATTCCTGGTAACAGCACTCTTATTACTGCAGTTGAACTGGAGCGATTTGTGAATCTGCACTCACTTGCCTTGGATTTT
TGTGACTTTACAGCTGAGATGGCAAGAGTCTTAACTGATAGCAACCATGTGCCTTTGCAACGACTGTCTCTTCTGGTTCACAATGTTTCTGTAATGCACAAGTCT
CTGGACAACATGCCAAATGATGAGCATTGGAAAGCCCTGTCACGAAAGAGCACCAGCTTTCGGGTCTATATAATGGCTTTTGATATCAAGAGTGAAGATATGTTA
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ATGTTGTTGTTCTTGTCAGTGCCGCAGCCCCGACCGCCGGGAGCTCGAACCCGAGCCGGGGCCGCCCGGGTGGCGCGGTGGCGGCGGCTGCGGCTGCAGCAGCTG
CGACGGCTGCGGGGGCTGCTCCGGGTACTGCGGGGGCGGCCGGGAGCCGGCAGCCGGCGGCGGGGCCGGATGGCTCTGTGCGGGCAGGCGGCGGGCGCTGCGTCG
CTGCCCAGCGAGCTGATCGTGCACATCTTCTCTTTTCTGCCGGCGCCCGACCGGCTGCGGGCCTCGGCCTCCTGCTCGCACTGGCGTGAGTGCCTCTTCTATCCG
GCCCTGTGGCCCCAGCTCCGCATCTGCCTCCGCGTCTCGCCCGCGGAGCAGCCTCGGCTGGAATTCCTCATGCGCAAGTGCGGCTGGTTCGTGCGAGAGCTGCGT
GTTGAATTCGCCGCCGAGAACTATCTGAGCGGCGGTGGCCCAGGGGACGGAGGTGGCGCGGACACCGGGACTGGAGGGGAGGAAGTCGAGGCCCTGCAGCTCTCA
GCTCGTTGGCTGGAAGTGCTGCGCACCTACTTGGAGCTGGTGCTTTGCGTGCTGGTCAGCATCCGGAACAACAGGAACCTTCAGAAGTTTAGTCTTTTTGGAGAC
ATAAGTGTTCTACAACAGCAAGGAAGTTTGTCAAATACATACCTCAGCAAGGTGGACCCTGATGGCAAAAAAATTAAACAAATTCAGCAACTGTTTGAAGAAATC
CTGAGTAATAGTAGGCAACTGAAATGGCTGTCCTGTGGGTTTATGCTGGAAATAGTAACCCCAACATCACTGTCATCTCTCTCTAATGCTGTTGCCAACACCATG
GAGCACCTCAGTTTACTGGACAATAATATTCCTGGTAACAGCACTCTTATTACTGCAGTTGAACTGGAGCGATTTGTGAATCTGCACTCACTTGCCTTGGATTTT
TGTGACTTTACAGCTGAGATGGCAAGAGTCTTAACTGATAGCAACCATGTGCCTTTGCAACGACTGTCTCTTCTGGTTCACAATGTTTCTGTAATGCACAAGTCT
CTGGACAACATGCCAAATGATGAGCATTGGAAAGCCCTGTCACGAAAGAGCACCAGCTTTCGGGTCTATATAATGGCTTTTGATATCAAGAGTGAAGATATGTTA
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>FBXO33|254170|protein
MLLFLSVPQPRPPGARTRAGAARVARWRRLRLQQLRRLRGLLRVLRGRPGAGSRRRGRMALCGQAAGAASLPSELIVHIFSFLPAPDRLRASASCSHWRECLFYP
ALWPQLRICLRVSPAEQPRLEFLMRKCGWFVRELRVEFAAENYLSGGGPGDGGGADTGTGGEEVEALQLSARWLEVLRTYLELVLCVLVSIRNNRNLQKFSLFGD
ISVLQQQGSLSNTYLSKVDPDGKKIKQIQQLFEEILSNSRQLKWLSCGFMLEIVTPTSLSSLSNAVANTMEHLSLLDNNIPGNSTLITAVELERFVNLHSLALDF
CDFTAEMARVLTDSNHVPLQRLSLLVHNVSVMHKSLDNMPNDEHWKALSRKSTSFRVYIMAFDIKSEDMLKILKPSIPLERIHFDSYITCVSGAIVDLISRQYDK
FLTHFILMNDVIDTSGFPDLSDNRNEDPLVLLAWRCTKLSLLAIHGYTVWAHNLIAIARLRGSDLKVLEVTEESIDFDQGELADQDVDPVHNLIEQVSLGLGQPW
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MLLFLSVPQPRPPGARTRAGAARVARWRRLRLQQLRRLRGLLRVLRGRPGAGSRRRGRMALCGQAAGAASLPSELIVHIFSFLPAPDRLRASASCSHWRECLFYP
ALWPQLRICLRVSPAEQPRLEFLMRKCGWFVRELRVEFAAENYLSGGGPGDGGGADTGTGGEEVEALQLSARWLEVLRTYLELVLCVLVSIRNNRNLQKFSLFGD
ISVLQQQGSLSNTYLSKVDPDGKKIKQIQQLFEEILSNSRQLKWLSCGFMLEIVTPTSLSSLSNAVANTMEHLSLLDNNIPGNSTLITAVELERFVNLHSLALDF
CDFTAEMARVLTDSNHVPLQRLSLLVHNVSVMHKSLDNMPNDEHWKALSRKSTSFRVYIMAFDIKSEDMLKILKPSIPLERIHFDSYITCVSGAIVDLISRQYDK
FLTHFILMNDVIDTSGFPDLSDNRNEDPLVLLAWRCTKLSLLAIHGYTVWAHNLIAIARLRGSDLKVLEVTEESIDFDQGELADQDVDPVHNLIEQVSLGLGQPW
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 | 2 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 8 (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 | |||||||||||
Wang, 2009_1 | Discovery | Illumina HumanHap550 BeadChip | 780 | 1299 (-) | ASD | - - |
- - | ||||
Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | 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 | ||||||||||||
Wang, 2009_2 | Discovery | Illumina HumanHap550 BeadChip | 1204 (-) | ASD | 10.3±6.6 - |
10.9±6.7 | 6491 (-) |
8.8±5.4 - |
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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