AutismKB 2.0

Evidence Details for AUTS2


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Basic Information Top
Gene Symbol:AUTS2 ( FBRSL2,KIAA0442,MGC13140 )
Gene Full Name: autism susceptibility candidate 2
Band: 7q11.22
Quick LinksEntrez 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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>AUTS2|26053|protein
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 aCGHASD - - - - 96 100 196
Pinto, 2010 - SNP microarray, qPCRASD - - - - 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 Arrayautistic - - - - 1 - 1
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
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 HiSeq2000autism - - - - -
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018