AutismKB 2.0

Evidence Details for DLG2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DLG2 ( DKFZp781D1854,DKFZp781E0954,FLJ37266,MGC131811,PSD-93,PSD93,chapsyn-110 )
Gene Full Name: discs, large homolog 2 (Drosophila)
Band: 11q14.1
Quick LinksEntrez ID:1740; OMIM: 603583; Uniprot ID:DLG2_HUMAN; ENSEMBL ID: ENSG00000150672; HGNC ID: 2901
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DLG2|1740|nucleotide
ATGGGTATCTTTAAGAGCAGCTTATTCCAAGCTTTGCTAGATATCCAAGAATTTTATGAGGTGACATTGCTAAATTCTCAAAAAAGTTGTGAGCAGAAGATAGAA
GAAGCCAATCAAGTTTTACAGAAATGGGAGAAGACATCCCTTCTTGCTCCGTGCCATGACAGACTTCAAAAATCTTCAGAGCTTACAGATTGCAGTGGATCAAAG
GAAAATGCTTCATGTATTGAGCAAAATAAAGAAAATCAGAGTTTTGAAAATGAAACTGATGAGACGACAACTCAAAACCAAGGCAGATGCCCAGCCCAGAATTGT
TCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTAAGTATCGATATCAAGATGAGGACGCTCCACATGATCATTCCTTACCTCGACTAACCCACGAA
GTAAGAGGCCCAGAACTCGTGCATGTATCAGAAAAGAACCTCTCTCAAATAGAAAATGTCCATGGATATGTCTTGCAGTCTCATATTTCTCCTCTGAAGGCCAGT
CCTGCTCCTATAATTGTCAACACAGATACTTTGGACACAATTCCTTATGTCAATGGGACAGAAATTGAATATGAATTTGAAGAAATTACACTGGAGAGGGGGAAT
TCTGGCCTGGGATTCAGTATTGCTGGGGGGACAGATAATCCCCACATTGGAGATGACCCTGGCATATTTATTACGAAGATTATACCAGGAGGTGCTGCAGCAGAG
GATGGCAGACTCAGGGTCAATGATTGTATCTTGCGGGTGAATGAGGTTGATGTGTCAGAGGTTTCCCACAGTAAAGCGGTGGAAGCCCTGAAGGAAGCAGGGTCT
ATCGTTCGGCTGTATGTGCGTAGAAGACGACCTATTTTGGAGACCGTTGTGGAAATCAAACTGTTCAAAGGCCCTAAAGGTTTAGGCTTCAGTATTGCAGGAGGT
GTGGGGAACCAACACATTCCTGGAGACAACAGCATTTATGTAACTAAAATTATAGATGGAGGAGCTGCACAAAAAGATGGAAGGTTGCAAGTAGGAGATAGACTA
CTAATGGTAAACAACTACAGTTTAGAAGAAGTAACACACGAAGAGGCAGTAGCAATATTAAAGAACACATCAGAGGTAGTTTATTTAAAAGTTGGCAAACCCACT
Show »

>DLG2|1740|protein
MGIFKSSLFQALLDIQEFYEVTLLNSQKSCEQKIEEANQVLQKWEKTSLLAPCHDRLQKSSELTDCSGSKENASCIEQNKENQSFENETDETTTQNQGRCPAQNC
SVEAPAWMPVHHCTKYRYQDEDAPHDHSLPRLTHEVRGPELVHVSEKNLSQIENVHGYVLQSHISPLKASPAPIIVNTDTLDTIPYVNGTEIEYEFEEITLERGN
SGLGFSIAGGTDNPHIGDDPGIFITKIIPGGAAAEDGRLRVNDCILRVNEVDVSEVSHSKAVEALKEAGSIVRLYVRRRRPILETVVEIKLFKGPKGLGFSIAGG
VGNQHIPGDNSIYVTKIIDGGAAQKDGRLQVGDRLLMVNNYSLEEVTHEEAVAILKNTSEVVYLKVGKPTTIYMTDPYGPPDITHSYSPPMENHLLSGNNGTLEY
KTSLPPISPGRYSPIPKHMLVDDDYTRPPEPVYSTVNKLCDKPASPRHYSPVECDKSFLLSAPYSHYHLGLLPDSEMTSHSQHSTATRQPSMTLQRAVSLEGEPR
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Cusco, 2008 Spanish aCGHASD - - - - 96 100 196
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top