AutismKB 2.0

Evidence Details for GTSE1


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Basic Information Top
Gene Symbol:GTSE1 ( B99 )
Gene Full Name: G-2 and S-phase expressed 1
Band: 22q13.31
Quick LinksEntrez ID:51512; OMIM: 607477; Uniprot ID:GTSE1_HUMAN; ENSEMBL ID: ENSG00000075218; HGNC ID: 13698
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GTSE1|51512|nucleotide
ATGGAAGGAGGCGGCGGCCGCGATGAGCCTTCAGCCTGCCGGGCAGGGGACGTGAACATGGATGACCCTAAGAAGGAAGACATTCTTCTTTTGGCCGATGAAAAA
TTTGACTTCGATCTTTCATTGTCTTCTTCGAGTGCAAATGAAGATGATGAAGTCTTCTTCGGACCCTTTGGACATAAAGAAAGATGTATTGCTGCCAGCTTGGAA
TTAAATAATCCGGTTCCCGAACAGCCTCCGTTGCCCACATCTGAGAGTCCCTTTGCCTGGAGCCCTCTGGCCGGGGAGAAGTTCGTGGAGGTGTACAAAGAAGCT
CACTTACTGGCTTTACACATTGAGAGCAGCAGCCGGAACCAGGCAGCCCAAGCTGCCAAGCCTGAAGACCCTCGGAGCCAGGGCGTGGAAAGATTCATACAGGAG
TCAAAATTAAAAATAAACCTCTTTGAGAAAGAAAAGGAAATGAAGAAAAGCCCCACGTCTCTTAAAAGGGAGACATACTACCTGTCAGACAGCCCCTTGCTGGGG
CCCCCTGTGGGTGAGCCTCGGCTCTTGGCCTCCTCCCCGGCCCTGCCCAGCTCTGGTGCCCAGGCCCGCCTCACCCGGGCGCCGGGGCCTCCGCACTCTGCTCAT
GCTTTGCCCAGGGAATCATGCACTGCTCATGCTGCAAGTCAGGCAGCGACTCAGAGGAAGCCCGGGACCAAATTGCTGCTGCCTCGAGCGGCCTCTGTTAGAGGA
AGAAGCATCCCTGGGGCTGCGGAGAAGCCCAAGAAAGAGATTCCAGCTAGTCCTTCCAGGACAAAAATCCCAGCTGAGAAGGAATCCCACCGGGATGTTCTCCCT
GACAAACCTGCCCCGGGTGCTGTCAATGTGCCGGCCGCCGGAAGCCACTTGGGCCAGGGCAAGCGGGCGATCCCTGTTCCAAACAAGTTGGGGCTGAAGAAGACC
CTGTTAAAAGCACCCGGCTCTACCAGCAATCTCGCAAGGAAGTCCTCCTCGGGGCCTGTTTGGAGCGGGGCATCCAGTGCGTGCACATCCCCAGCAGTGGGCAAA
GCTAAATCAAGTGAATTTGCAAGTATTCCTGCAAATAGCTCCCGGCCTCTGTCAAACATCAGCAAGTCAGGCAGAATGGGACCCGCCATGCTGCGGCCAGCTCTG
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>GTSE1|51512|protein
MEGGGGRDEPSACRAGDVNMDDPKKEDILLLADEKFDFDLSLSSSSANEDDEVFFGPFGHKERCIAASLELNNPVPEQPPLPTSESPFAWSPLAGEKFVEVYKEA
HLLALHIESSSRNQAAQAAKPEDPRSQGVERFIQESKLKINLFEKEKEMKKSPTSLKRETYYLSDSPLLGPPVGEPRLLASSPALPSSGAQARLTRAPGPPHSAH
ALPRESCTAHAASQAATQRKPGTKLLLPRAASVRGRSIPGAAEKPKKEIPASPSRTKIPAEKESHRDVLPDKPAPGAVNVPAAGSHLGQGKRAIPVPNKLGLKKT
LLKAPGSTSNLARKSSSGPVWSGASSACTSPAVGKAKSSEFASIPANSSRPLSNISKSGRMGPAMLRPALPAGPVGASSWQAKRVDVSELAAEQLTAPPSASPTQ
PQTPEGGGQWLNSSCAWSESSQLNKTRSIRRRDSCLNSKTKVMPTPTNQFKIPKFSIGDSPDSSTPKLSRAQRPQSCTSVGRVTVHSTPVRRSSGPAPQSLLSAR
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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 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top