AutismKB 2.0

Evidence Details for BTG3


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Basic Information Top
Gene Symbol:BTG3 ( ANA,MGC8928,TOB5,TOB55,TOFA )
Gene Full Name: BTG family, member 3
Band: 21q21.1
Quick LinksEntrez ID:10950; OMIM: 605674; Uniprot ID:BTG3_HUMAN; ENSEMBL ID: ENSG00000154640; HGNC ID: 1132
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BTG3|10950|nucleotide
ATGAAGAATGAAATTGCTGCCGTTGTCTTCTTTTTCACAAGGCTAGTTCGAAAACATGATAAGTTGAAAAAAGAGGCAGTTGAGAGGTTTGCTGAGAAATTGACC
CTAATACTTCAAGAAAAATATAAAAATCACTGGTATCCAGAAAAACCATCGAAAGGACAGGCCTACAGATGTATTCGTGTCAATAAATTTCAGAGAGTTGATCCT
GATGTCCTGAAAGCCTGTGAAAACAGCTGCATCTTGTATAGTGACCTGGGCTTGCCAAAGGAGCTCACTCTCTGGGTGGACCCATGTGAGGTGTGCTGTCGTAGA
GATGGGGTTTCACCATGTTGGCCAGACTGCTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGATTACAGGCGTGAGCCACTGCGC
CCGGCCTCCTCCTTTTTGATTATGTATGGAGAGAAAAACAATGCATTCATTGTTGCCAGCTTTGAAAATAAAGATGAGAACAAGGATGAGATCTCCAGGAAAGTT
ACCAGGGCCCTTGATAAGGTTACCTCTGATTATCATTCAGGATCCTCTTCTTCAGATGAAGAAACAAGTAAGGAAATGGAAGTGAAACCCAGTTCGGTGACTGCA
GCCGCAAGTCCTGTGTACCAGATTTCAGAACTTATATTTCCACCTCTTCCAATGTGGCACCCTTTGCCCAGAAAAAAGCCAGGAATGTATCGAGGGAATGGCCAT
CAGAATCACTATCCTCCTCCTGTTCCATTTGGTTATCCAAATCAGGGAAGAAAAAATAAACCATATCGCCCAATTCCAGTGACATGGGTACCTCCTCCTGGAATG
CATTGTGACCGGAATCACTGGATTAATCCTCACATGTTAGCACCTCACTAA


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>BTG3|10950|protein
MKNEIAAVVFFFTRLVRKHDKLKKEAVERFAEKLTLILQEKYKNHWYPEKPSKGQAYRCIRVNKFQRVDPDVLKACENSCILYSDLGLPKELTLWVDPCEVCCRR
DGVSPCWPDCSQTPDLVIRPPWPPKALDYRREPLRPASSFLIMYGEKNNAFIVASFENKDENKDEISRKVTRALDKVTSDYHSGSSSSDEETSKEMEVKPSSVTA
AASPVYQISELIFPPLPMWHPLPRKKPGMYRGNGHQNHYPPPVPFGYPNQGRKNKPYRPIPVTWVPPPGMHCDRNHWINPHMLAPH


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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) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
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
Molloy, 2005 USA microsatellite-based genomic screenASD 34 - 34 - - - -
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.27978 Up -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2154836
  • 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

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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