AutismKB 2.0

Evidence Details for SEPHS2


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Basic Information Top
Gene Symbol:SEPHS2 ( SPS2 )
Gene Full Name: selenophosphate synthetase 2
Band: 16p11.2
Quick LinksEntrez ID:22928; OMIM: 606218; Uniprot ID:SPS2_HUMAN; ENSEMBL ID: ENSG00000179918,ENSG00000246275; HGNC ID: 19686
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SEPHS2|22928|nucleotide
ATGGCGGAAGCCTCGGCGACGGGCGCCTGCGGAGAGGCGATGGCAGCGGCGGAAGGCTCCTCGGGCCCGGCGGGCTTGACTCTGGGCCGGAGCTTCTCGAACTAC
CGGCCCTTCGAGCCCCAGGCGTTGGGCCTCAGCCCGAGCTGGCGGCTGACGGGCTTCTCCGGCATGAAGGGCTGAGGCTGCAAGGTCCCGCAGGAGGCGCTGCTC
AAACTCCTGGCGGGACTGACGCGGCCGGACGTGCGGCCCCCGCTGGGCCGGGGCCTGGTGGGTGGCCAGGAAGAGGCGTCCCAGGAAGCCGGCCTGCCGGCAGGA
GCGGGCCCCAGCCCCACCTTTCCAGCCCTGGGCATCGGGATGGACTCCTGCGTCATCCCCCTGAGGCACGGGGGCCTGTCACTGGTGCAGACCACGGACTTCTTT
TACCCCTTGGTAGAAGATCCCTACATGATGGGGCGCATAGCTTGTGCCAACGTGCTGAGTGACCTCTACGCCATGGGGATTACTGAGTGTGACAACATGTTGATG
TTACTCAGCGTCAGCCAGAGTATGAGTGAGGAGGAACGCGAAAAGGTAACGCCACTCATGGTCAAAGGCTTTCGGGATGCGGCTGAGGAAGGAGGGACGGCAGTG
ACCGGTGGGCAAACGGTGGTCAACCCTTGGATTATAATCGGTGGAGTTGCCACTGTAGTATGCCAACCAAATGAGTTCATAATGCCGGACAGCGCCGTCGTTGGG
GACGTGCTGGTGTTAACCAAACCGTTAGGAACCCAGGTTGCTGTCAATGCCCACCAATGGCTGGATAATCCTGAAAGATGGAATAAAGTAAAGATGGTGGTCTCC
AGAGAAGAGGTGGAGCTGGCCTATCAGGAAGCCATGTTCAATATGGCTACCCTCAACAGAACTGCTGCAGGTTTAATGCACACATTTAATGCCCATGCGGCCACA
GATATCACAGGCTTTGGCATTCTAGGACACTCCCAGAACCTTGCAAAACAACAAAGAAATGAAGTGTCCTTTGTTATTCATAATCTGCCAATAATTGCCAAGATG
GCTGCCGTCAGCAAGGCCAGTGGACGGTTTGGGCTTCTTCAAGGAACCTCAGCTGAAACCTCTGGGGGATTACTGATTTGTCTGCCAAGAGAACAGGCGGCTCGC
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>SEPHS2|22928|protein
MAEASATGACGEAMAAAEGSSGPAGLTLGRSFSNYRPFEPQALGLSPSWRLTGFSGMKGUGCKVPQEALLKLLAGLTRPDVRPPLGRGLVGGQEEASQEAGLPAG
AGPSPTFPALGIGMDSCVIPLRHGGLSLVQTTDFFYPLVEDPYMMGRIACANVLSDLYAMGITECDNMLMLLSVSQSMSEEEREKVTPLMVKGFRDAAEEGGTAV
TGGQTVVNPWIIIGGVATVVCQPNEFIMPDSAVVGDVLVLTKPLGTQVAVNAHQWLDNPERWNKVKMVVSREEVELAYQEAMFNMATLNRTAAGLMHTFNAHAAT
DITGFGILGHSQNLAKQQRNEVSFVIHNLPIIAKMAAVSKASGRFGLLQGTSAETSGGLLICLPREQAARFCSEIKSSKYGEGHQAWIVGIVEKGNRTARIIDKP
RVIEVLPRGATAAVLAPDSSNASSEPSS
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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) 2 (4) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top