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