AutismKB 2.0

Evidence Details for GRIA1


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Basic Information Top
Gene Symbol:GRIA1 ( GLUH1,GLUR1,GLURA,GluA1,HBGR1,MGC133252 )
Gene Full Name: glutamate receptor, ionotropic, AMPA 1
Band: 5q33.2
Quick LinksEntrez ID:2890; OMIM: 138248; Uniprot ID:GRIA1_HUMAN; ENSEMBL ID: ENSG00000155511; HGNC ID: 4571
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRIA1|2890|nucleotide
ATGCAGCACATTTTTGCCTTCTTCTGCACCGGTTTCCTAGGCGCGGTAGTAGGTGCCAATTTCCCCAACAATATCCAGATCGGGGGATTATTTCCAAACCAGCAG
TCACAGGAACATGCTGCTTTTAGATTTGCTTTGTCGCAACTCACAGAGCCCCCGAAGCTGCTCCCCCAGATTGATATTGTGAACATCAGCGACAGCTTTGAGATG
ACCTATAGATTCTGTTCCCAGTTCTCCAAAGGAGTCTATGCCATCTTTGGGTTTTATGAACGTAGGACTGTCAACATGCTGACCTCCTTTTGTGGGGCCCTCCAC
GTCTGCTTCATTACGCCGAGCTTTCCCGTTGATACATCCAATCAGTTTGTCCTTCAGCTGCGCCCTGAACTGCAGGATGCCCTCATCAGCATCATTGACCATTAC
AAGTGGCAGAAATTTGTCTACATTTATGATGCCGACCGGGGCTTATCCGTCCTGCAGAAAGTCCTGGATACAGCTGCTGAGAAGAACTGGCAGGTGACAGCAGTC
AACATTTTGACAACCACAGAGGAGGGATACCGGATGCTCTTTCAGGACCTGGAGAAGAAAAAGGAGCGGCTGGTGGTGGTGGACTGTGAATCAGAACGCCTCAAT
GCTATCTTGGGCCAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGGCTTCATGGACATTGACTTAAACAAATTCAAGGAG
AGTGGCGCCAATGTGACAGGTTTCCAGCTGGTGAACTACACAGACACTATTCCGGCCAAGATCATGCAGCAGTGGAAGAATAGTGATGCTCGAGACCACACACGG
GTGGACTGGAAGAGACCCAAGTACACCTCTGCGCTCACCTACGATGGGGTGAAGGTGATGGCTGAGGCTTTCCAGAGCCTGCGGAGGCAGAGAATTGATATATCT
CGCCGGGGGAATGCTGGGGATTGTCTGGCTAACCCAGCTGTTCCCTGGGGCCAAGGGATCGACATCCAGAGAGCTCTGCAGCAGGTGCGATTTGAAGGTTTAACA
GGAAACGTGCAGTTTAATGAGAAAGGACGCCGGACCAACTACACGCTCCACGTGATTGAAATGAAACATGACGGCATCCGAAAGATTGGTTACTGGAATGAAGAT
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>GRIA1|2890|protein
MQHIFAFFCTGFLGAVVGANFPNNIQIGGLFPNQQSQEHAAFRFALSQLTEPPKLLPQIDIVNISDSFEMTYRFCSQFSKGVYAIFGFYERRTVNMLTSFCGALH
VCFITPSFPVDTSNQFVLQLRPELQDALISIIDHYKWQKFVYIYDADRGLSVLQKVLDTAAEKNWQVTAVNILTTTEEGYRMLFQDLEKKKERLVVVDCESERLN
AILGQIIKLEKNGIGYHYILANLGFMDIDLNKFKESGANVTGFQLVNYTDTIPAKIMQQWKNSDARDHTRVDWKRPKYTSALTYDGVKVMAEAFQSLRRQRIDIS
RRGNAGDCLANPAVPWGQGIDIQRALQQVRFEGLTGNVQFNEKGRRTNYTLHVIEMKHDGIRKIGYWNEDDKFVPAATDAQAGGDNSSVQNRTYIVTTILEDPYV
MLKKNANQFEGNDRYEGYCVELAAEIAKHVGYSYRLEIVSDGKYGARDPDTKAWNGMVGELVYGRADVAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSK
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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) 0 (0) 0 (0) 1 (1) 2 (3) 0 (0) 0 (0) 0 (0) 21 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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
Purcell, 2001_1 America cerebellum 4
(-)
-autism 4
(-)
1.55 Up -
  • Platform: Atlas Human Neurobiology array (Clontech Laboratories, Palo Alto, CA)
  • ProbeSet: -
  • RefSeq_ID/ EST: M64752
  • GEO_ID: -
  • Statistic Method: ratio of autism/control
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Turner TN, 2016 53 - 27 Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN
Geisheker MR, 2017 - - 36 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
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