AutismKB 2.0

Evidence Details for GRID2IP


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Basic Information Top
Gene Symbol:GRID2IP ( DELPHILIN )
Gene Full Name: glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein
Band: 7p22.1
Quick LinksEntrez ID:392862; OMIM: 610639; Uniprot ID:GRD2I_HUMAN; ENSEMBL ID: ENSG00000215045; HGNC ID: 18464
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRID2IP|392862|nucleotide
ATGGCCACCACTGCCACGCCGGCCACGAACCAGGGCTGGCCAGAGGACTTTGGCTTCCGGCTAGGTGGCTCTGGCCCCTGCTTCGTCCTGGAGGTGGCCAAGGGG
AGCAGCGCGCATGCCGGAGGACTGCGGCCAGGAGACCAGATCCTGGAGGTGGAGGGGCTGGCGGTGGGCGGTCTGAGCCGCGAGCGCCTCGTGCGCCTGGCACGG
CGCTGCCCACGTGTGCCGCCCAGTCTGGGCGTGCTCCCGGCTCCCGACGGTGGCCCCGGCCCAGGATCCGGCCCCGCGGCCCCGACCACAGTCTTGCGGGCCCCG
CGGTGCGGCCGCGGCCTAGCTCTGGGCCGTGAGCTGCTTCGCCTGGCCGGCCGCAAGCGCCCGGACGCGGTGCACCGAGAGCGCAGGCGCAAGGCCCAAGAGTTC
AGCCGCAAGGTGGATGAAATCTTGGGGGACCAGCCAACTGCCAAGGAGCAGGTGTTCGCTGCACTGAAGCAGTTTGCAGCTGAGCAGCGGGTGGATGATCTGGTG
TGGACTCTCACCCTGGCGCTGCCCCGAGAGGCCTGCGGGCCACTCCTGGACAACCTCAGGATCTTCATCCCCAAGAAGCACCGGGCGCGCTTCGACGAGGTGGTG
TCTCAGGGCCTCCTGGGCAAGCTGTGCCGCGCACGCCGGGCCCAGGGCGCGCAGCGACTGCGCCGGAGCCGCAGCGAGGAGCGGCCGGAGCGCCTCCTGGTGTCC
ACGCGCGCCAGCGCCCCGCCGCGCCGCCCCGATGAGCCGCCCCCGCGCAGGGCCTCCTTGCTGGTGGGCGGCCTCGCCGGCCCCGGGGGCGCGCGCAGGACTGTC
CGAGTCTACAAAGGCAACAAGAGCTTCGGCTTCACACTTCGCGGCCACGGGCCTGTCTGGATCGAGTCTGTCCTGCCTGGGAGCCCAGCTGACAATGCTGCCCTC
AAGTCAGGTGACCGGATCCTCTTCCTCAATGGACTGGACATGAGGAACTGCTCCCACGACAAGGTGGTGTCCATGCTGCAGGGCAGTGGTGCCATGCCCACGCTG
GTGGTGGAGGAAGGGCTCGTCCCATTTGCCAGTGACTCCGATTCTCTGGACTCACCCAACCCGTCGTCGGCGCTCACCTCCCTGCAGTGGGTGGCGGAGATCCTG
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>GRID2IP|392862|protein
MATTATPATNQGWPEDFGFRLGGSGPCFVLEVAKGSSAHAGGLRPGDQILEVEGLAVGGLSRERLVRLARRCPRVPPSLGVLPAPDGGPGPGSGPAAPTTVLRAP
RCGRGLALGRELLRLAGRKRPDAVHRERRRKAQEFSRKVDEILGDQPTAKEQVFAALKQFAAEQRVDDLVWTLTLALPREACGPLLDNLRIFIPKKHRARFDEVV
SQGLLGKLCRARRAQGAQRLRRSRSEERPERLLVSTRASAPPRRPDEPPPRRASLLVGGLAGPGGARRTVRVYKGNKSFGFTLRGHGPVWIESVLPGSPADNAAL
KSGDRILFLNGLDMRNCSHDKVVSMLQGSGAMPTLVVEEGLVPFASDSDSLDSPNPSSALTSLQWVAEILPSSIRVQGRTFSQQLEHLLTPPERYGVCRALESFF
QHRNIDTLIVDVYPVLDTPAKQVLWQFIYQLLTYEEQELCQEKIACFLGYTAMTAEPEPELDLESEPTPEPQPRSSLRASSMCRRSLRSQGLEAGLSCGPSECPE
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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
Goitia V, 2015 Hispanic array CGH --ASD - - - - 1 - 1
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
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
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