AutismKB 2.0

Evidence Details for EGLN2


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Basic Information Top
Gene Symbol:EGLN2 ( DKFZp434E026,EIT6,HIFPH1,HPH-3,PHD1 )
Gene Full Name: egl nine homolog 2 (C. elegans)
Band: 19q13.2
Quick LinksEntrez ID:112398; OMIM: 606424; Uniprot ID:EGLN2_HUMAN; ENSEMBL ID: ENSG00000171570; HGNC ID: 14660
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EGLN2|112398|nucleotide
ATGGACAGCCCGTGCCAGCCGCAGCCCCTAAGTCAGGCTCTCCCTCAGTTACCAGGGTCTTCGTCAGAGCCCTTGGAGCCTGAGCCTGGCCGGGCCAGGATGGGA
GTGGAGAGTTACCTGCCCTGTCCCCTGCTCCCCTCCTACCACTGTCCAGGAGTGCCTAGTGAGGCCTCGGCAGGGAGTGGGACCCCCAGAGCCACAGCCACCTCT
ACCACTGCCAGCCCTCTTCGGGACGGTTTTGGCGGGCAGGATGGTGGTGAGCTGCGGCCGCTGCAGAGTGAAGGCGCTGCAGCGCTGGTCACCAAGGGGTGCCAG
CGATTGGCAGCCCAGGGCGCACGGCCTGAGGCCCCCAAACGGAAATGGGCCGAGGATGGTGGGGATGCCCCTTCACCCAGCAAACGGCCCTGGGCCAGGCAAGAG
AACCAGGAGGCAGAGCGGGAGGGTGGCATGAGCTGCAGCTGCAGCAGTGGCAGTGGTGAGGCCAGTGCTGGGCTGATGGAGGAGGCGCTGCCCTCTGCGCCCGAG
CGCCTGGCCCTGGACTATATCGTGCCCTGCATGCGGTACTACGGCATCTGCGTCAAGGACAGCTTCCTGGGGGCAGCACTGGGCGGTCGCGTGCTGGCCGAGGTG
GAGGCCCTCAAACGGGGTGGGCGCCTGCGAGACGGGCAGCTAGTGAGCCAGAGGGCGATCCCGCCGCGCAGCATCCGTGGGGACCAGATTGCCTGGGTGGAAGGC
CATGAACCAGGCTGTCGAAGCATTGGTGCCCTCATGGCCCATGTGGACGCCGTCATCCGCCACTGCGCAGGGCGGCTGGGCAGCTATGTCATCAACGGGCGCACC
AAGGCCATGGTGGCGTGTTACCCAGGCAACGGGCTCGGGTACGTAAGGCACGTTGACAATCCCCACGGCGATGGGCGCTGCATCACCTGTATCTATTACCTGAAT
CAGAACTGGGACGTTAAGGTGCATGGCGGCCTGCTGCAGATCTTCCCTGAGGGCCGGCCCGTGGTAGCCAACATCGAGCCACTCTTTGACCGGTTGCTCATTTTC
TGGTCTGACCGGCGGAACCCCCACGAGGTGAAGCCAGCCTATGCCACCAGGTACGCCATCACTGTCTGGTATTTTGATGCCAAGGAGCGGGCAGCAGCCAAAGAC
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>EGLN2|112398|protein
MDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLPCPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQ
RLAAQGARPEAPKRKWAEDGGDAPSPSKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEV
EALKRGGRLRDGQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKAMVACYPGNGLGYVRHVDNPHGDGRCITCIYYLN
QNWDVKVHGGLLQIFPEGRPVVANIEPLFDRLLIFWSDRRNPHEVKPAYATRYAITVWYFDAKERAAAKDKYQLASGQKGVQVPVSQPPTPT

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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 (2) 0 (0) 0 (0) 0 (0) 0 (2) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top