AutismKB 2.0

Evidence Details for EPS8L3


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Basic Information Top
Gene Symbol:EPS8L3 ( EPS8R3,FLJ21522,MGC16817 )
Gene Full Name: EPS8-like 3
Band: 1p13.3
Quick LinksEntrez ID:79574; OMIM: NA; Uniprot ID:ES8L3_HUMAN; ENSEMBL ID: ENSG00000198758; HGNC ID: 21297
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EPS8L3|79574|nucleotide
ATGTCAAGGCCCAGCAGCAGAGCCATTTACTTGCACCGGAAGGAGTACTCCCAGAACCTCACCTCAGAGCCCACCCTCCTGCAGCACAGGGTGGAGCACTTGATG
ACATGCAAGCAGGGGAGTCAGAGAGTCCAGGGGCCCGAGGATGCCTTGCAGAAGCTGTTCGAGATGGATGCACAGGGCCGGGTGTGGAGCCAAGACTTGATCCTG
CAGGTCAGGGACGGCTGGCTGCAGCTGCTGGACATTGAGACCAAGGAGGAGCTGGACTCTTACCGCCTAGACAGCATCCAGGCCATGAATGTGGCGCTCAACACA
TGTTCCTACAACTCCATCCTGTCCATCACCGTGCAGGAGCCGGGCCTGCCAGGCACTAGCACTCTGCTCTTCCAGTGCCAGGAAGTGGGGGCAGAGCGACTGAAG
ACCAGCCTGCAGAAGGCTCTGGAGGAAGAGCTGGAGCAAAGACCTCGACTTGGAGGCCTTCAGCCAGGCCAGGACAGATGGAGGGGGCCTGCTATGGAAAGGCCG
CTCCCTATGGAGCAGGCACGCTATCTGGAGCCGGGGATCCCTCCAGAACAGCCCCACCAGAGGACCCTAGAGCACAGCCTCCCACCATCCCCAAGGCCCCTGCCA
CGCCACACCAGTGCCCGAGAACCAAGTGCCTTTACTCTGCCTCCTCCAAGGCGGTCCTCTTCCCCCGAGGACCCAGAGAGGGACGAGGAAGTGCTGAACCATGTC
CTAAGGGACATTGAGCTGTTCATGGGAAAGCTGGAGAAGGCCCAGGCAAAGACCAGCAGGAAGAAGAAATTTGGGAAAAAAAACAAGGACCAGGGAGGTCTCACC
CAGGCACAGTACATTGACTGCTTCCAGAAGATCAAGCACAGCTTCAACCTCCTGGGAAGGCTGGCCACCTGGCTGAAGGAGACAAGTGCCCCTGAGCTCGTACAC
ATCCTCTTCAAGTCCCTGAACTTCATCCTGGCCAGGTGCCCTGAGGCTGGCCTAGCAGCCCAAGTGATCTCACCCCTCCTCACCCCTAAAGCTATCAACCTGCTA
CAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGGATGGGGTTGGGCCCAGCCTGGACCACTAGCCGGGCCGACTGGACAGGCGATGAGCCCCTGCCCTACCAA
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>EPS8L3|79574|protein
MSRPSSRAIYLHRKEYSQNLTSEPTLLQHRVEHLMTCKQGSQRVQGPEDALQKLFEMDAQGRVWSQDLILQVRDGWLQLLDIETKEELDSYRLDSIQAMNVALNT
CSYNSILSITVQEPGLPGTSTLLFQCQEVGAERLKTSLQKALEEELEQRPRLGGLQPGQDRWRGPAMERPLPMEQARYLEPGIPPEQPHQRTLEHSLPPSPRPLP
RHTSAREPSAFTLPPPRRSSSPEDPERDEEVLNHVLRDIELFMGKLEKAQAKTSRKKKFGKKNKDQGGLTQAQYIDCFQKIKHSFNLLGRLATWLKETSAPELVH
ILFKSLNFILARCPEAGLAAQVISPLLTPKAINLLQSCLSPPESNLWMGLGPAWTTSRADWTGDEPLPYQPTFSDDWQLPEPSSQAPLGYQDPVSLRPSSPKPAQ
PALKMQVLYEFEARNPRELTVVQGEKLEVLDHSKRWWLVKNEAGRSGYIPSNILEPLQPGTPGTQGQSPSRVPMLRLSSRPEEVTDWLQAENFSTATVRTLGSLT
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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 (0) 0 (1) 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
Nava C, 2015 North African SNP ArrayASD 4 3 1 - 5 4 9
Linkage Studies Top