AutismKB 2.0

Evidence Details for STAG3


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Basic Information Top
Gene Symbol:STAG3 ( - )
Gene Full Name: stromal antigen 3
Band: 7q22.1
Quick LinksEntrez ID:10734; OMIM: 608489; Uniprot ID:STAG3_HUMAN; ENSEMBL ID: ENSG00000066923; HGNC ID: 11356
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>STAG3|10734|nucleotide
ATGTCTTCCCCGTTGCAAAGAGCTGTGGGAGATACCAAGAGGGCCTTGTCTGCATCTTCTAGTTCCTCTGCCAGTCTACCCTTTGATGACAGGGACTCAAACCAT
ACCTCAGAGGGGAATGGCGACTCTTTGTTAGCTGATGAAGACACTGACTTTGAAGACAGCTTGAATCGCAATGTGAAGAAGAGAGCAGCAAAACGACCACCGAAA
ACAACACCGGTGGCAAAACATCCAAAGAAAGGGTCCCGAGTGGTACATCGTCATAGCCGGAAACAGTCAGAGCCACCAGCCAATGATCTTTTCAATGCTGTGAAA
GCCGCCAAAAGTGACATGCAGTCTTTGGTAGATGAGTGGCTGGATAGCTACAAGCAAGACCAGGATGCAGGATTTCTGGAGCTTGTTAACTTTTTCATCCAATCT
TGCGGATGTAAAGGCATTGTGACCCCTGAGATGTTCAAGAAGATGTCCAACTCAGAGATCATCCAGCACCTAACAGAGCAGTTTAATGAGGACTCGGGGGACTAC
CCTCTCATAGCTCCAGGTCCATCCTGGAAGAAGTTCCAGGGCAGCTTCTGTGAATTTGTGAGGACATTGGTCTGTCAGTGCCAGTACAGCCTCCTCTATGATGGC
TTCCCTATGGACGACCTCATCTCCCTGCTCACTGGCCTCTCAGACTCACAAGTCCGCGCCTTCCGTCACACTAGCACCCTGGCTGCTATGAAACTGATGACCTCC
CTGGTAAAAGTTGCCCTCCAACTGAGTGTGCACCAAGATAACAATCAGCGTCAGTATGAGGCTGAAAGAAACAAGGGGCCAGGGCAGAGGGCACCTGAGCGGCTG
GAGAGCCTGTTGGAGAAACGCAAAGAGCTCCAAGAGCATCAAGAGGAGATTGAGGGGATGATGAATGCCCTCTTCAGGGGTGTCTTTGTTCATCGGTACAGGGAT
GTCCTTCCTGAGATCCGTGCTATCTGCATTGAGGAAATTGGGTGTTGGATGCAAAGCTACAGCACGTCTTTCCTCACCGACAGCTATTTAAAATATATTGGTTGG
ACTCTGCATGATAAGCACCGAGAAGTCCGCCTGAAGTGTGTGAAGGCCCTGAAAGGGCTGTACGGTAACCGGGACCTGACCACACGCCTGGAGCTCTTCACCAGC
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>STAG3|10734|protein
MSSPLQRAVGDTKRALSASSSSSASLPFDDRDSNHTSEGNGDSLLADEDTDFEDSLNRNVKKRAAKRPPKTTPVAKHPKKGSRVVHRHSRKQSEPPANDLFNAVK
AAKSDMQSLVDEWLDSYKQDQDAGFLELVNFFIQSCGCKGIVTPEMFKKMSNSEIIQHLTEQFNEDSGDYPLIAPGPSWKKFQGSFCEFVRTLVCQCQYSLLYDG
FPMDDLISLLTGLSDSQVRAFRHTSTLAAMKLMTSLVKVALQLSVHQDNNQRQYEAERNKGPGQRAPERLESLLEKRKELQEHQEEIEGMMNALFRGVFVHRYRD
VLPEIRAICIEEIGCWMQSYSTSFLTDSYLKYIGWTLHDKHREVRLKCVKALKGLYGNRDLTTRLELFTSRFKDRMVSMVMDREYDVAVEAVRLLILILKNMEGV
LTDADCESVYPVVYASHRGLASAAGEFLYWKLFYPECEIRMMGGREQRQSPGAQRTFFQLLLSFFVESELHDHAAYLVDSLWDCAGARLKDWEGLTSLLLEKDQN
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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 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 13 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Nishimura, 2007_1 America lymphoblastoid cell lines 8
(-)
autism with FMR1-FMautism 15
(-)
1.39 Up 0.000007
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_012447
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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.

Simple Query:


  (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