AutismKB 2.0

Evidence Details for GRM4


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Basic Information Top
Gene Symbol:GRM4 ( GPRC1D,MGC177594,MGLUR4,mGlu4 )
Gene Full Name: glutamate receptor, metabotropic 4
Band: 6p21.31
Quick LinksEntrez ID:2914; OMIM: 604100; Uniprot ID:GRM4_HUMAN; ENSEMBL ID: ENSG00000124493; HGNC ID: 4596
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRM4|2914|nucleotide
ATGCCTGGGAAGAGAGGCTTGGGCTGGTGGTGGGCCCGGCTGCCCCTTTGCCTGCTCCTCAGCCTTTACGGCCCCTGGATGCCTTCCTCCCTGGGAAAGCCCAAA
GGCCACCCTCACATGAATTCCATCCGCATAGATGGGGACATCACACTGGGAGGCCTGTTCCCGGTGCATGGCCGGGGCTCAGAGGGCAAGCCCTGTGGAGAACTT
AAGAAGGAAAAGGGCATCCACCGGCTGGAGGCCATGCTGTTCGCCCTGGATCGCATCAACAACGACCCGGACCTGCTGCCTAACATCACGCTGGGCGCCCGCATT
CTGGACACCTGCTCCAGGGACACCCATGCCCTCGAGCAGTCGCTGACCTTTGTGCAGGCGCTCATCGAGAAGGATGGCACAGAGGTCCGCTGTGGCAGTGGCGGC
CCACCCATCATCACCAAGCCTGAACGTGTGGTGGGTGTCATCGGTGCTTCAGGGAGCTCGGTCTCCATCATGGTGGCCAACATCCTTCGCCTCTTCAAGATACCC
CAGATCAGCTACGCCTCCACAGCGCCAGACCTGAGTGACAACAGCCGCTACGACTTCTTCTCCCGCGTGGTGCCCTCGGACACGTACCAGGCCCAGGCCATGGTG
GACATCGTCCGTGCCCTCAAGTGGAACTATGTGTCCACAGTGGCCTCGGAGGGCAGCTATGGTGAGAGCGGTGTGGAGGCCTTCATCCAGAAGTCCCGTGAGGAC
GGGGGCGTGTGCATCGCCCAGTCGGTGAAGATACCACGGGAGCCCAAGGCAGGCGAGTTCGACAAGATCATCCGCCGCCTCCTGGAGACTTCGAACGCCAGGGCA
GTCATCATCTTTGCCAACGAGGATGACATCAGGCGTGTGCTGGAGGCAGCACGAAGGGCCAACCAGACAGGCCATTTCTTCTGGATGGGCTCTGACAGCTGGGGC
TCCAAGATTGCACCTGTGCTGCACCTGGAGGAGGTGGCTGAGGGTGCTGTCACGATCCTCCCCAAGAGGATGTCCGTACGAGGCTTCGACCGCTACTTCTCCAGC
CGCACGCTGGACAACAACCGGCGCAACATCTGGTTTGCCGAGTTCTGGGAGGACAACTTCCACTGCAAGCTGAGCCGCCACGCCCTCAAGAAGGGCAGCCACGTC
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>GRM4|2914|protein
MPGKRGLGWWWARLPLCLLLSLYGPWMPSSLGKPKGHPHMNSIRIDGDITLGGLFPVHGRGSEGKPCGELKKEKGIHRLEAMLFALDRINNDPDLLPNITLGARI
LDTCSRDTHALEQSLTFVQALIEKDGTEVRCGSGGPPIITKPERVVGVIGASGSSVSIMVANILRLFKIPQISYASTAPDLSDNSRYDFFSRVVPSDTYQAQAMV
DIVRALKWNYVSTVASEGSYGESGVEAFIQKSREDGGVCIAQSVKIPREPKAGEFDKIIRRLLETSNARAVIIFANEDDIRRVLEAARRANQTGHFFWMGSDSWG
SKIAPVLHLEEVAEGAVTILPKRMSVRGFDRYFSSRTLDNNRRNIWFAEFWEDNFHCKLSRHALKKGSHVKKCTNRERIGQDSAYEQEGKVQFVIDAVYAMGHAL
HAMHRDLCPGRVGLCPRMDPVDGTQLLKYIRNVNFSGIAGNPVTFNENGDAPGRYDIYQYQLRNDSAEYKVIGSWTDHLHLRIERMHWPGSGQQLPRSICSLPCQ
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
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