AutismKB 2.0

Evidence Details for EPS8L2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EPS8L2 ( EPS8R2,FLJ16738,FLJ21935,FLJ22171,MGC126530,MGC3088 )
Gene Full Name: EPS8-like 2
Band: 11p15.5
Quick LinksEntrez ID:64787; OMIM: NA; Uniprot ID:ES8L2_HUMAN; ENSEMBL ID: ENSG00000177106; HGNC ID: 21296
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EPS8L2|64787|nucleotide
ATGAGCCAGTCCGGGGCCGTGAGCTGCTGCCCGGGTGCCACCAATGGCAGCCTGGGCCGGTCCGACGGTGTGGCCAAGATGAGCCCCAAGGACCTGTTTGAGCAG
AGGAAGAAGTATTCCAACTCCAACGTCATCATGCACGAGACCTCGCAGTACCACGTCCAGCACCTGGCCACATTCATCATGGACAAGAGCGAAGCCATCACGTCT
GTGGACGACGCCATCCGGAAGCTGGTGCAGCTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCGCTGCGGCTGCTGGAC
ATCGAGTCACAGGAGGAGCTGGAAGACTTCCCGCTGCCCACGGTGCAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTGCTGCTGCTCGTGTGC
CAGGACTCGGAGCAGAGCAAGCCGGATGTCCACTTCTTCCACTGCGATGAGGTGGAGGCAGAGCTGGTGCACGAGGACATCGAGAGCGCGTTGGCCGACTGCCGG
CTGGGCAAGAAGATGCGGCCGCAGACCCTGAAGGGACACCAGGAGAAGATTCGGCAGCGGCAGTCCATCCTGCCTCCTCCCCAGGGCCCGGCGCCCATCCCCTTC
CAGCACCGCGGCGGGGATTCCCCGGAGGCCAAGAATCGCGTGGGCCCGCAGGTGCCACTCAGCGAGCCAGGTTTCCGCCGTCGGGAGTCGCAGGAGGAGCCGCGG
GCCGTGCTGGCTCAGAAGATAGAGAAGGAGACGCAAATCCTCAACTGCGCCCTGGACGACATCGAGTGGTTTGTGGCCCGGCTGCAGAAGGCAGCCGAGGCTTTC
AAGCAGCTGAACCAGCGGAAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAGAGGGCGTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATC
GACTGCTTCCAGAAAATCAAGCTGGCGATTAACTTGCTGGCAAAGCTGCAGAAGCACATCCAGAACCCCAGCGCCGCGGAGCTCGTGCACTTCCTCTTCGGGCCT
CTGGACCTGATCGTCAACACCTGCAGTGGCCCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGATGCCGTGGACTTCCTGCGCGGCCACCTGGTC
Show »

>EPS8L2|64787|protein
MSQSGAVSCCPGATNGSLGRSDGVAKMSPKDLFEQRKKYSNSNVIMHETSQYHVQHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLD
IESQEELEDFPLPTVQRSQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQSILPPPQGPAPIPF
QHRGGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEGVLTLRARPPSEGEFI
DCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAVDFLRGHLVPKEMSLWESLGESWMRPRSEWPREPQVPLYVPKFH
SGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSSPHTHRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDG
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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top