AutismKB 2.0

Evidence Details for GAS8


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Basic Information Top
Gene Symbol:GAS8 ( GAS11,MGC138326 )
Gene Full Name: growth arrest-specific 8
Band: 16q24.3
Quick LinksEntrez ID:2622; OMIM: 605178; Uniprot ID:GAS8_HUMAN; ENSEMBL ID: ENSG00000141013; HGNC ID: 4166
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GAS8|2622|nucleotide
ATGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGGAGGAGCATGTC
AGCCGCATCCGGGAGGAGCTGGACCGCGAGCGGGAGGAACGAAACTACTTCCAGCTGGAGCGGGACAAGATCCACACCTTCTGGGAGATCACACGGAGGCAGCTG
GAGGAGAAGAAGGCTGAGCTGCGGAACAAAGACCGGGAGATGGAAGAAGCCGAGGAGAGGCACCAGGTGGAGATCAAGGTGTACAAGCAGAAAGTGAAGCACCTG
CTATATGAGCACCAGAACAACCTGACAGAGATGAAGGCTGAGGGCACTGTAGTCATGAAGCTGGCACAGAAAGAGCACCGCATACAGGAGAGTGTGCTGCGCAAG
GACATGCGGGCACTGAAGGTGGAGCTCAAGGAGCAGGAGCTGGCCAGTGAGGTGGTGGTGAAGAACCTGCGGCTGAAACACACCGAGGAGATCACCAGGATGCGG
AATGATTTTGAGAGGCAAGTTCGAGAAATTGAGGCCAAGTATGATAAGAAGATGAAGATGCTGAGGGACGAACTCGACTTGCGGAGAAAGACTGAGCTCCACGAA
GTGGAGGAGAGGAAGAATGGCCAGATCCACACGCTGATGCAGCGCCACGAGGAGGCCTTCACCGACATTAAGAACTACTACAACGACATCACCCTCAACAACCTG
GCCCTCATCAACTCCCTCAAGGAGCAGATGGAGGACATGCGGAAGAAGGAGGACCACCTGGAGAGGGAGATGGCAGAGGTGTCTGGGCAGAACAAGCGCCTGGCA
GACCCTCTCCAGAAGGCTCGGGAGGAGATGAGCGAGATGCAGAAACAGCTCGCAAACTACGAGAGGGACAAGCAGATCCTGCTTTGCACAAAAGCCCGTTTGAAA
GTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGCAGCAGGAGCGGGACGAGCTCTATCGGAAGTTCACC
GCAGCCATCCAGGAGGTGCAGCAGAAGACAGGGTTCAAGAACCTCGTGCTAGAACGCAAGCTGCAGGCTCTGAGCGCCGCTGTGGAGAAGAAGGAGGTGCAGTTC
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>GAS8|2622|protein
MAPKKKGKKGKAKGTPIVDGLAPEDMSKEQVEEHVSRIREELDREREERNYFQLERDKIHTFWEITRRQLEEKKAELRNKDREMEEAEERHQVEIKVYKQKVKHL
LYEHQNNLTEMKAEGTVVMKLAQKEHRIQESVLRKDMRALKVELKEQELASEVVVKNLRLKHTEEITRMRNDFERQVREIEAKYDKKMKMLRDELDLRRKTELHE
VEERKNGQIHTLMQRHEEAFTDIKNYYNDITLNNLALINSLKEQMEDMRKKEDHLEREMAEVSGQNKRLADPLQKAREEMSEMQKQLANYERDKQILLCTKARLK
VREKELKDLQWEHEVLEQRFTKVQQERDELYRKFTAAIQEVQQKTGFKNLVLERKLQALSAAVEKKEVQFNEVLAASNLDPAALTLVSRKLEDVLESKNSTIKDL
QYELAQVCKAHNDLLRTYEAKLLAFGIPLDNVGFKPLETAVIGQTLGQGPAGLVGTPT
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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 (0) 1 (1) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.27 Up 0.0245
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1783798
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.943807 Down 44.5157
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1783798
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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