AutismKB 2.0

Evidence Details for USP17L2


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Basic Information Top
Gene Symbol:USP17L2 ( DUB3 )
Gene Full Name: ubiquitin specific peptidase 17-like 2
Band: 8p23.1
Quick LinksEntrez ID:377630; OMIM: 610186; Uniprot ID:U17L2_HUMAN; ENSEMBL ID: ENSG00000223443; HGNC ID: 34434
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>USP17L2|377630|nucleotide
ATGGAGGACGACTCACTCTACTTGGGAGGTGAGTGGCAGTTCAACCACTTTTCAAAACTCACATCTTCTCGGCCAGATGCAGCTTTTGCTGAAATCCAGCGGACT
TCTCTCCCTGAGAAGTCACCACTCTCATCTGAGGCCCGTGTCGACCTCTGTGATGATTTGGCTCCTGTGGCAAGACAGCTTGCTCCCAGGAAGAAGCTTCCTCTG
AGTAGCAGGAGACCTGCTGCGGTGGGGGCTGGGCTCCAGAATATGGGAAATACCTGCTACGAGAACGCTTCCCTGCAGTGCCTGACATACACACCGCCCCTTGCC
AACTACATGCTGTCCCGGGAGCACTCTCAAACATGTCAGCGTCCCAAGTGCTGCATGCTCTGTACTATGCAAGCTCACATCACATGGGCCCTCCACAGTCCTGGT
CATGTCATCCAGCCCTCACAGGCATTGGCTGCTGGCTTCCATAGAGGCAAGCAGGAAGATGCCCATGAATTTCTCATGTTCACTGTGGATGCCATGAAAAAGGCA
TGCCTTCCCGGCCACAAGCAGGTAGATCATCACTCTAAGGACACCACCCTCATCCACCAAATATTTGGAGGCTGCTGGAGATCTCAAATCAAGTGTCTCCACTGC
CACGGGATTTCAGACACTTTTGACCCTTACCTGGACATCGCCCTGGATATCCAGGCAGCTCAGAGTGTCAAGCAAGCTTTGGAACAGTTGGTGAAGCCCGAAGAA
CTCAATGGAGAGAATGCCTATCATTGCGGTCTTTGTCTCCAGAGGGCGCCGGCCTCCAAGACGTTAACTTTACACACTTCTGCCAAGGTCCTCATCCTTGTCTTG
AAGAGATTCTCCGATGTCACAGGCAACAAACTTGCCAAGAATGTGCAATATCCTGAGTGCCTTGACATGCAGCCATACATGTCTCAGCAGAACACAGGACCTCTT
GTCTATGTCCTCTATGCTGTGCTGGTCCACGCTGGGTGGAGTTGTCACGACGGACATTACTTCTCTTATGTCAAAGCTCAAGAAGGCCAGTGGTATAAAATGGAT
GATGCCAAGGTCACTGCCTGTAGCATCACTTCTGTCCTGAGTCAACAGGCCTATGTCCTCTTTTACATCCAGAAGAGTGAATGGGAAAGACACAGTGAGAGTGTG
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>USP17L2|377630|protein
MEDDSLYLGGEWQFNHFSKLTSSRPDAAFAEIQRTSLPEKSPLSSEARVDLCDDLAPVARQLAPRKKLPLSSRRPAAVGAGLQNMGNTCYENASLQCLTYTPPLA
NYMLSREHSQTCQRPKCCMLCTMQAHITWALHSPGHVIQPSQALAAGFHRGKQEDAHEFLMFTVDAMKKACLPGHKQVDHHSKDTTLIHQIFGGCWRSQIKCLHC
HGISDTFDPYLDIALDIQAAQSVKQALEQLVKPEELNGENAYHCGLCLQRAPASKTLTLHTSAKVLILVLKRFSDVTGNKLAKNVQYPECLDMQPYMSQQNTGPL
VYVLYAVLVHAGWSCHDGHYFSYVKAQEGQWYKMDDAKVTACSITSVLSQQAYVLFYIQKSEWERHSESVSRGREPRALGAEDTDRRATQGELKRDHPCLQAPEL
DERLVERATQESTLDHWKFPQEQNKTKPEFNVRKVEGTLPPNVLVIHQSKYKCGMKNHHPEQQSSLLNLSSTTRTDQESVNTGTLASLQGRTRRSKGKNKHSKRA
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top