AutismKB 2.0

Evidence Details for TUSC3


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Basic Information Top
Gene Symbol:TUSC3 ( D8S1992,M33,MGC13453,MRT7,N33,OST3A )
Gene Full Name: tumor suppressor candidate 3
Band: 8p22
Quick LinksEntrez ID:7991; OMIM: 601385; Uniprot ID:TUSC3_HUMAN; ENSEMBL ID: ENSG00000104723; HGNC ID: 30242
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TUSC3|7991|nucleotide
ATGGGGGCCCGGGGCGCTCCTTCACGCCGTAGGCAAGCGGGGCGGCGGCTGCGGTACCTGCCCACCGGGAGCTTTCCCTTCCTTCTCCTGCTGCTGCTGCTCTGC
ATCCAGCTCGGGGGAGGACAGAAGAAAAAGGAGAATCTTTTAGCTGAAAAAGTAGAGCAGCTGATGGAATGGAGTTCCAGACGCTCAATCTTCCGAATGAATGGT
GATAAATTCCGAAAATTTATAAAGGCACCACCTCGAAACTATTCCATGATTGTTATGTTCACTGCTCTTCAGCCTCAGCGGCAGTGTTCTGTGTGCAGGCAAGCT
AATGAAGAATATCAAATACTGGCGAACTCCTGGCGCTATTCATCTGCTTTTTGTAACAAGCTCTTCTTCAGTATGGTGGACTATGATGAGGGGACAGACGTTTTT
CAGCAGCTCAACATGAACTCTGCTCCTACATTCATGCATTTTCCTCCAAAAGGCAGACCTAAGAGAGCTGATACTTTTGACCTCCAAAGAATTGGATTTGCAGCT
GAGCAACTAGCAAAGTGGATTGCTGACAGAACGGATGTTCATATTCGGGTTTTCAGACCACCCAACTACTCTGGTACCATTGCTTTGGCCCTGTTAGTGTCGCTT
GTTGGAGGTTTGCTTTATTTGAGAAGGAACAACTTGGAGTTCATCTATAACAAGACTGGTTGGGCCATGGTGTCTCTGTGTATAGTCTTTGCTATGACTTCTGGC
CAGATGTGGAACCATATCCGTGGACCTCCATATGCTCATAAGAACCCACACAATGGACAAGTGAGCTACATTCATGGGAGCAGCCAGGCTCAGTTTGTGGCAGAA
TCACACATTATTCTGGTACTGAATGCCGCTATCACCATGGGGATGGTTCTTCTAAATGAAGCAGCAACTTCGAAAGGCGATGTTGGAAAAAGACGGATAATTTGC
CTAGTGGGATTGGGCCTGGTGGTCTTCTTCTTCAGTTTTCTACTTTCAATATTTCGTTCCAAGTACCACGGCTATCCTTATAGTGATCTGGACTTTGAGTGA

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>TUSC3|7991|protein
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQA
NEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSL
VGGLLYLRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAESHIILVLNAAITMGMVLLNEAATSKGDVGKRRIIC
LVGLGLVVFFFSFLLSIFRSKYHGYPYSDLDFE

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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) 1 (4) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 4 (8)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Doan RN, 2016 - ---ASD - - - - -
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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