Evidence Details for GRIA1
Basic Information Top
| Gene Symbol: | GRIA1 ( GLUH1,GLUR1,GLURA,GluA1,HBGR1,MGC133252 ) |
|---|---|
| Gene Full Name: | glutamate receptor, ionotropic, AMPA 1 |
| Band: | 5q33.2 |
| Quick Links | Entrez 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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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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MQHIFAFFCTGFLGAVVGANFPNNIQIGGLFPNQQSQEHAAFRFALSQLTEPPKLLPQIDIVNISDSFEMTYRFCSQFSKGVYAIFGFYERRTVNMLTSFCGALH
VCFITPSFPVDTSNQFVLQLRPELQDALISIIDHYKWQKFVYIYDADRGLSVLQKVLDTAAEKNWQVTAVNILTTTEEGYRMLFQDLEKKKERLVVVDCESERLN
AILGQIIKLEKNGIGYHYILANLGFMDIDLNKFKESGANVTGFQLVNYTDTIPAKIMQQWKNSDARDHTRVDWKRPKYTSALTYDGVKVMAEAFQSLRRQRIDIS
RRGNAGDCLANPAVPWGQGIDIQRALQQVRFEGLTGNVQFNEKGRRTNYTLHVIEMKHDGIRKIGYWNEDDKFVPAATDAQAGGDNSSVQNRTYIVTTILEDPYV
MLKKNANQFEGNDRYEGYCVELAAEIAKHVGYSYRLEIVSDGKYGARDPDTKAWNGMVGELVYGRADVAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSK
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Evidence summary TopClick 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) | 0 (0) | 0 (0) | 1 (1) | 2 (3) | 0 (0) | 0 (0) | 0 (0) | 21 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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 | - | |
| ||||||||||||
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 TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.