AutismKB 2.0

Evidence Details for GRM8


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Basic Information Top
Gene Symbol:GRM8 ( FLJ41058,GLUR8,GPRC1H,MGC126724,MGLUR8,mGlu8 )
Gene Full Name: glutamate receptor, metabotropic 8
Band: 7q31.33
Quick LinksEntrez ID:2918; OMIM: 601116; Uniprot ID:GRM8_HUMAN; ENSEMBL ID: ENSG00000179603; HGNC ID: 4600
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRM8|2918|nucleotide
ATGGTATGCGAGGGAAAGCGATCAGCCTCTTGCCCTTGTTTCTTCCTCTTGACCGCCAAGTTCTACTGGATCCTCACAATGATGCAAAGAACTCACAGCCAGGAG
TATGCCCATTCCATACGGGTGGATGGGGACATTATTTTGGGGGGTCTCTTCCCTGTCCACGCAAAGGGAGAGAGAGGGGTGCCTTGTGGGGAGCTGAAGAAGGAA
AAGGGGATTCACAGACTGGAGGCCATGCTTTATGCAATTGACCAGATTAACAAGGACCCTGATCTCCTTTCCAACATCACTCTGGGTGTCCGCATCCTCGACACG
TGCTCTAGGGACACCTATGCTTTGGAGCAGTCTCTAACATTCGTGCAGGCATTAATAGAGAAAGATGCTTCGGATGTGAAGTGTGCTAATGGAGATCCACCCATT
TTCACCAAGCCCGACAAGATTTCTGGCGTCATAGGTGCTGCAGCAAGCTCCGTGTCCATCATGGTTGCTAACATTTTAAGACTTTTTAAGATACCTCAAATCAGC
TATGCATCCACAGCCCCAGAGCTAAGTGATAACACCAGGTATGACTTTTTCTCTCGAGTGGTTCCGCCTGACTCCTACCAAGCCCAAGCCATGGTGGACATCGTG
ACAGCACTGGGATGGAATTATGTTTCGACACTGGCTTCTGAGGGGAACTATGGTGAGAGCGGTGTGGAGGCCTTCACCCAGATCTCGAGGGAGATTGGTGGTGTT
TGCATTGCTCAGTCACAGAAAATCCCACGTGAACCAAGACCTGGAGAATTTGAAAAAATTATCAAACGCCTGCTAGAAACACCTAATGCTCGAGCAGTGATTATG
TTTGCCAATGAGGATGACATCAGGAGGATATTGGAAGCAGCAAAAAAACTAAACCAAAGTGGGCATTTTCTCTGGATTGGCTCAGATAGTTGGGGATCCAAAATA
GCACCTGTCTATCAGCAAGAGGAGATTGCAGAAGGGGCTGTGACAATTTTGCCCAAACGAGCATCAATTGATGGATTTGATCGATACTTTAGAAGCCGAACTCTT
GCCAATAATCGAAGAAATGTGTGGTTTGCAGAATTCTGGGAGGAGAATTTTGGCTGCAAGTTAGGATCACATGGGAAAAGGAACAGTCATATAAAGAAATGCACA
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>GRM8|2918|protein
MVCEGKRSASCPCFFLLTAKFYWILTMMQRTHSQEYAHSIRVDGDIILGGLFPVHAKGERGVPCGELKKEKGIHRLEAMLYAIDQINKDPDLLSNITLGVRILDT
CSRDTYALEQSLTFVQALIEKDASDVKCANGDPPIFTKPDKISGVIGAAASSVSIMVANILRLFKIPQISYASTAPELSDNTRYDFFSRVVPPDSYQAQAMVDIV
TALGWNYVSTLASEGNYGESGVEAFTQISREIGGVCIAQSQKIPREPRPGEFEKIIKRLLETPNARAVIMFANEDDIRRILEAAKKLNQSGHFLWIGSDSWGSKI
APVYQQEEIAEGAVTILPKRASIDGFDRYFRSRTLANNRRNVWFAEFWEENFGCKLGSHGKRNSHIKKCTGLERIARDSSYEQEGKVQFVIDAVYSMAYALHNMH
KDLCPGYIGLCPRMSTIDGKELLGYIRAVNFNGSAGTPVTFNENGDAPGRYDIFQYQITNKSTEYKVIGHWTNQLHLKVEDMQWAHREHTHPASVCSLPCKPGER
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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 (5) 1 (1) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (8)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Cusco, 2008 Spanish aCGHASD - - - - 96 100 196
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top