AutismKB 2.0

Evidence Details for ISG20


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Basic Information Top
Gene Symbol:ISG20 ( CD25,HEM45 )
Gene Full Name: interferon stimulated exonuclease gene 20kDa
Band: 15q26.1
Quick LinksEntrez ID:3669; OMIM: 604533; Uniprot ID:ISG20_HUMAN; ENSEMBL ID: ENSG00000172183; HGNC ID: 6130
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ISG20|3669|nucleotide
ATGGCTGGGAGCCGTGAGGTGGTGGCCATGGACTGCGAGATGGTGGGGCTGGGGCCCCACCGGGAGAGTGGCCTGGCTCGTTGCAGCCTCGTGAACGTCCACGGT
GCTGTGCTGTACGACAAGTTCATCCGGCCTGAGGGAGAGATCACCGATTACAGAACCCGGGTCAGCGGGGTCACCCCTCAGCACATGGTGGGGGCCACACCATTT
GCCGTGGCCAGGCTAGAGATCCTGCAGCTCCTGAAAGGCAAGCTGGTGGTGGGTCATGACCTGAAGCACGACTTCCAGGCACTGAAAGAGGACATGAGCGGCTAC
ACAATCTACGACACGTCCACTGACAGGCTGTTGTGGCGTGAGGCCAAGCTGGACCACTGCAGGCGTGTCTCCCTGCGGGTGCTGAGTGAGCGCCTCCTGCACAAG
AGCATCCAGAACAGCCTGCTTGGACACAGCTCGGTGGAAGATGCGAGGGCAACGATGGAGCTCTATCAAATCTCCCAGAGAATCCGAGCCCGCCGAGGGCTGCCC
CGCCTGGCTGTGTCAGACTGA





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>ISG20|3669|protein
MAGSREVVAMDCEMVGLGPHRESGLARCSLVNVHGAVLYDKFIRPEGEITDYRTRVSGVTPQHMVGATPFAVARLEILQLLKGKLVVGHDLKHDFQALKEDMSGY
TIYDTSTDRLLWREAKLDHCRRVSLRVLSERLLHKSIQNSLLGHSSVEDARATMELYQISQRIRARRGLPRLAVSD



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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top