AutismKB 2.0

Evidence Details for GRIK5


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Basic Information Top
Gene Symbol:GRIK5 ( EAA2,GRIK2,KA2 )
Gene Full Name: glutamate receptor, ionotropic, kainate 5
Band: 19q13.2
Quick LinksEntrez ID:2901; OMIM: 600283; Uniprot ID:GRIK5_HUMAN; ENSEMBL ID: ENSG00000105737; HGNC ID: 4583
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRIK5|2901|nucleotide
ATGCCGGCTGAGCTGCTGCTGCTGCTGATTGTTGCCTTCGCCAGCCCCAGCTGCCAGGTGCTCTCATCACTGCGCATGGCTGCAATCCTGGATGATCAGACAGTG
TGTGGCCGCGGTGAGCGTCTGGCCTTGGCCTTGGCCCGGGAGCAGATCAACGGGATCATCGAGGTCCCAGCCAAGGCCCGAGTGGAAGTAGACATCTTTGAGCTG
CAGCGGGACAGCCAGTACGAGACCACGGACACCATGTGTCAGATCTTACCCAAAGGGGTTGTGTCTGTCCTTGGGCCCTCCTCTAGCCCAGCATCTGCCTCCACC
GTGAGCCATATCTGTGGAGAGAAGGAGATCCCCCACATCAAGGTGGGTCCCGAGGAGACACCCCGCCTTCAGTACCTTCGCTTCGCGTCTGTCAGCCTGTACCCC
AGTAACGAGGACGTCAGCTTGGCGGTCTCCCGAATCCTCAAGTCCTTCAACTACCCCTCGGCCAGCCTCATCTGCGCCAAGGCTGAGTGCCTGCTGCGATTGGAG
GAACTGGTGCGTGGCTTCCTCATCTCCAAGGAGACGCTGTCAGTGAGGATGTTGGACGACAGCCGGGACCCCACACCACTGCTCAAGGAGATCCGTGATGACAAG
GTGTCCACCATCATCATCGACGCCAACGCCTCCATCTCCCACCTCATCCTCCGTAAGGCCTCGGAACTGGGAATGACCTCAGCGTTTTACAAGTACATCCTCACC
ACCATGGACTTCCCCATCCTGCATCTGGACGGTATTGTGGAGGACTCCTCCAACATCCTGGGCTTCTCCATGTTCAACACGTCCCACCCCTTCTACCCTGAGTTT
GTCCGCAGCCTCAACATGTCCTGGAGGGAGAACTGTGAAGCCAGCACCTACCTGGGCCCTGCGCTGTCAGCCGCCCTGATGTTTGACGCCGTGCACGTGGTGGTG
AGCGCTGTCCGAGAGCTGAACCGCAGCCAGGAGATCGGTGTGAAGCCTCTGGCCTGTACATCGGCCAACATTTGGCCCCACGGGACCAGCCTCATGAACTACCTG
CGCATGGTAGAGTATGATGGGCTGACCGGGCGGGTCGAGTTCAACAGCAAAGGGCAGAGAACCAACTACACCCTGCGCATCCTAGAAAAGTCCCGGCAGGGCCAC
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>GRIK5|2901|protein
MPAELLLLLIVAFASPSCQVLSSLRMAAILDDQTVCGRGERLALALAREQINGIIEVPAKARVEVDIFELQRDSQYETTDTMCQILPKGVVSVLGPSSSPASAST
VSHICGEKEIPHIKVGPEETPRLQYLRFASVSLYPSNEDVSLAVSRILKSFNYPSASLICAKAECLLRLEELVRGFLISKETLSVRMLDDSRDPTPLLKEIRDDK
VSTIIIDANASISHLILRKASELGMTSAFYKYILTTMDFPILHLDGIVEDSSNILGFSMFNTSHPFYPEFVRSLNMSWRENCEASTYLGPALSAALMFDAVHVVV
SAVRELNRSQEIGVKPLACTSANIWPHGTSLMNYLRMVEYDGLTGRVEFNSKGQRTNYTLRILEKSRQGHREIGVWYSNRTLAMNATTLDINLSQTLANKTLVVT
TILENPYVMRRPNFQALSGNERFEGFCVDMLRELAELLRFRYRLRLVEDGLYGAPEPNGSWTGMVGELINRKADLAVAAFTITAEREKVIDFSKPFMTLGISILY
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 2 (5)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top