Evidence Details for AUTS2
Basic Information Top
Gene Symbol: | AUTS2 ( FBRSL2,KIAA0442,MGC13140 ) |
---|---|
Gene Full Name: | autism susceptibility candidate 2 |
Band: | 7q11.22 |
Quick Links | Entrez ID:26053; OMIM: 607270; Uniprot ID:AUTS2_HUMAN; ENSEMBL ID: ENSG00000158321; HGNC ID: 14262 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>AUTS2|26053|nucleotide
ATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCC
GGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCC
AGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAGAAAGAT
GTAGCACTTAAGCCTCAGGAACGTGTGGAGAAACGCCAGACGCCCCTGACCAAGAAGAAACGAGAAGCACTTACCAATGGCTTGTCCTTTCATTCAAAGAAGAGC
AGACTCAGCCACCCACACCACTACAGCTCAGATCGAGAAAATGACCGCAATCTCTGCCAGCACCTTGGGAAGAGAAAGAAAATGCCGAAGGCACTCAGACAGCTC
AAGCCAGGACAGAACAGCTGCAGGGACAGTGACAGTGAAAGTGCCAGTGGAGAATCCAAGGGCTTCCACCGGAGCAGCTCTCGGGAAAGGCTCAGTGATAGTTCA
GCTCCTTCCAGCTTGGGAACAGGCTACTTCTGTGACAGTGACAGTGACCAGGAAGAGAAGGCATCAGATGCCAGCTCTGAAAAACTCTTCAACACTGTTATTGTA
AACAAAGATCCGGAGTTAGGTGTTGGCACGCTACCAGAACATGACAGCCAGGATGCAGGGCCGATTGTCCCCAAGATATCGGGTCTAGAGAGAAGCCAGGAGAAG
AGCCAGGACTGTTGCAAAGAGCCAATCTTTGAGCCTGTGGTGCTTAAAGACCCCTGCCCTCAGGTCGCACAGCCAATACCCCAGCCGCAGACGGAGCCCCAACTC
CGAGCTCCTTCTCCGGACCCTGACTTGGTGCAGCGCACAGAGGCCCCACCTCAACCCCCACCTCTGAGTACACAGCCACCACAGGGCCCTCCTGAGGCCCAGCTC
CAGCCTGCCCCGCAGCCTCAGGTGCAGAGGCCACCCAGGCCACAGTCCCCCACCCAGCTGCTCCATCAGAACCTCCCACCTGTGCAGGCCCACCCCTCTGCTCAG
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ATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCC
GGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCC
AGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAGAAAGAT
GTAGCACTTAAGCCTCAGGAACGTGTGGAGAAACGCCAGACGCCCCTGACCAAGAAGAAACGAGAAGCACTTACCAATGGCTTGTCCTTTCATTCAAAGAAGAGC
AGACTCAGCCACCCACACCACTACAGCTCAGATCGAGAAAATGACCGCAATCTCTGCCAGCACCTTGGGAAGAGAAAGAAAATGCCGAAGGCACTCAGACAGCTC
AAGCCAGGACAGAACAGCTGCAGGGACAGTGACAGTGAAAGTGCCAGTGGAGAATCCAAGGGCTTCCACCGGAGCAGCTCTCGGGAAAGGCTCAGTGATAGTTCA
GCTCCTTCCAGCTTGGGAACAGGCTACTTCTGTGACAGTGACAGTGACCAGGAAGAGAAGGCATCAGATGCCAGCTCTGAAAAACTCTTCAACACTGTTATTGTA
AACAAAGATCCGGAGTTAGGTGTTGGCACGCTACCAGAACATGACAGCCAGGATGCAGGGCCGATTGTCCCCAAGATATCGGGTCTAGAGAGAAGCCAGGAGAAG
AGCCAGGACTGTTGCAAAGAGCCAATCTTTGAGCCTGTGGTGCTTAAAGACCCCTGCCCTCAGGTCGCACAGCCAATACCCCAGCCGCAGACGGAGCCCCAACTC
CGAGCTCCTTCTCCGGACCCTGACTTGGTGCAGCGCACAGAGGCCCCACCTCAACCCCCACCTCTGAGTACACAGCCACCACAGGGCCCTCCTGAGGCCCAGCTC
CAGCCTGCCCCGCAGCCTCAGGTGCAGAGGCCACCCAGGCCACAGTCCCCCACCCAGCTGCTCCATCAGAACCTCCCACCTGTGCAGGCCCACCCCTCTGCTCAG
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>AUTS2|26053|protein
MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKD
VALKPQERVEKRQTPLTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQLKPGQNSCRDSDSESASGESKGFHRSSSRERLSDSS
APSSLGTGYFCDSDSDQEEKASDASSEKLFNTVIVNKDPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCPQVAQPIPQPQTEPQL
RAPSPDPDLVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQRPPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPAKTQPAPP
HISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFH
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MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKD
VALKPQERVEKRQTPLTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQLKPGQNSCRDSDSESASGESKGFHRSSSRERLSDSS
APSSLGTGYFCDSDSDQEEKASDASSEKLFNTVIVNKDPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCPQVAQPIPQPQTEPQL
RAPSPDPDLVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQRPPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPAKTQPAPP
HISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFH
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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 | 0 (1) | 2 (11) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 2 (2) | 3 (4) | 50 (20) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
CAUCASIAN | |||||||||||
Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ASD | - - |
- - |
Case Control Based Association Studies: 0
Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Cusco, 2008 | Spanish | aCGH | ASD | - | - | - | - | 96 | 100 | 196 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Beunders G, 2013 | The Netherlands; Belgium; Great Britain; the Uniti | aCGH | - | - | autism or autistic disorders | - | - | - | - | 49684 | 16784 | 66468 |
Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
Amarillo IE, 2014 | - | SNP-based chromosomal microarray analysis (SNP CMA) | - | - | - | - | - | - | - | 1 | - | 1 |
Liu Y, 2015 | - | - | - | - | - | - | - | 1 | - | 1 | ||
Fan Y, 2016 | China | CMA | - | - | autism | - | - | - | - | 3 | - | 3 |
Balay L, 2016 | - | SNP Array | autistic | - | - | - | - | 1 | - | 1 | ||
C Yuen RK, 2017 | - | WGS | ASD | - | - | - | - | 1745 | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
No Evidence. |
Case Control Based Association Studies: 1
Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
CAUCASIAN | |||||||||||
Sultana, 2002_1 | Unknown | - | - | - | ASD | - - |
- | 96 (-) |
- - |
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Brett M, 2014 | - | Illumina HiSeq2000 | - | - | autism | - | - | - | 8 | Sanger sequencing |
McCarthy SE, 2014 | - | Illumina HiSeq2000 | autism | - | - | - | - | - |
Low Scale Gene Studies Top
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