AutismKB 2.0

Evidence Details for GPRIN1


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Basic Information Top
Gene Symbol:GPRIN1 ( GRIN1,KIAA1893 )
Gene Full Name: G protein regulated inducer of neurite outgrowth 1
Band: 5q35.2
Quick LinksEntrez ID:114787; OMIM: 611239; Uniprot ID:GRIN1_HUMAN; ENSEMBL ID: ENSG00000169258; HGNC ID: 24835
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GPRIN1|114787|nucleotide
ATGGACACTGCTGAAGACCCGGCCTGGCTCCAGCTGCTTCAAAAGGATTCCAGCCCCCCAGGACCCCGACCCACAGCCTTCTTCTGCCCACAGGATGGGAGCCTG
GGGGCTGGCAGCTCGGCTATGAGGGATTACTGCCCCTCCCAGCAAAAGGCAAGCCCTGCACCCCCCAGGCACACCCCTGACCAAAGCCCAGGCATGGAGTCTAGA
CACAGAAGCCCCAGTGGGGCTGGGGAAGGGGCCTCCTGCTCTGACGGCCCCAGAGGGAGCCTGGCCTGCCCCTCCCCAACCTGCTTCTCTCCCCAGGAGTCACCC
TCCAAGGAGACATTGGAGGCACATGGAGCCTCCATCTCAGGGACACCAGAAGCCACCACGTCTGGGAAGCCAGAGCCTGTGTCCTCCGTGAAAACTGAGCCCAAA
TCCTCAGATGACAGAAATCCCATGTTCTTAGAGAAGATGGATTTCAAGTCCTCAAAGCAGGCCGATTCCACTTCCATAGGAAAGGAGGATCCTGGGTCCTCACGG
AAGGCAGATCCCATGTTTACAGGAAAGGCAGAGCCTGAAATCTTGGGAAAGGGGGATCCTGTGGCTCCTGGAAGGATGGATCCCATGACTGTAAGAAAGGAAGAT
CTTGGATCCCTGGGAAAAGTAGATCCTTTGTGCTCCAGCAAGACGTATACAGTGTCACCGAGGAAGGAGGATCCTGGGTCTTTGAGAAAGGTGGATCCTGTGTCC
TCAGACAAAGTGGACCCTGTATTCCCAAGAAAGGAGGAGCCCAGGTATTCAGGAAAAGAGCATCCTGTGTCCTCAGAAAAGGTCGCTCCTACATCTGCAGAAAAG
GTAGATCTTGTATTGTCGGGAAAGAGAGATCCTGGGCCCTCGGGAAAGGCAGATCCCATGCCCTTGGAAAGCATGGATTCTGCGTCCACAGGAAAGACAGAGCCG
GGGCTCCTGGGCAAGCTGATTCCAGGCTCATCAGGCAAGAATGGGCCTGTATCCTCTGGGACCGGGGCTCCTGGGTCCTTGGGAAGGCTGGATCCCACATGCTTG
GGGATGGCAGATCCCGCATCTGTGGGAAATGTAGAAACTGTGCCTGCCACAAAAGAGGACTCCCGGTTCCTGGGAAAGATGGACCCTGCCTCCTCAGGAGAGGGG
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>GPRIN1|114787|protein
MDTAEDPAWLQLLQKDSSPPGPRPTAFFCPQDGSLGAGSSAMRDYCPSQQKASPAPPRHTPDQSPGMESRHRSPSGAGEGASCSDGPRGSLACPSPTCFSPQESP
SKETLEAHGASISGTPEATTSGKPEPVSSVKTEPKSSDDRNPMFLEKMDFKSSKQADSTSIGKEDPGSSRKADPMFTGKAEPEILGKGDPVAPGRMDPMTVRKED
LGSLGKVDPLCSSKTYTVSPRKEDPGSLRKVDPVSSDKVDPVFPRKEEPRYSGKEHPVSSEKVAPTSAEKVDLVLSGKRDPGPSGKADPMPLESMDSASTGKTEP
GLLGKLIPGSSGKNGPVSSGTGAPGSLGRLDPTCLGMADPASVGNVETVPATKEDSRFLGKMDPASSGEGRPVSGHTDTTASAKTDLTSLKNVDPMSSGKVDPVS
LGKMDPMCSGKPELLSPGQAERVSVGKAGTVSPGKEDPVSSRREDPISAGSRKTSSEKVNPESSGKTNPVSSGPGDPRSLGTAGPPSAVKAEPATGGKGDPLSSE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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