AutismKB 2.0

Evidence Details for SET


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Basic Information Top
Gene Symbol:SET ( 2PP2A,I2PP2A,IGAAD,IPP2A2,PHAPII,TAF-I,TAF-IBETA )
Gene Full Name: SET nuclear oncogene
Band: 9q34.11
Quick LinksEntrez ID:6418; OMIM: 600960; Uniprot ID:SET_HUMAN; ENSEMBL ID: ENSG00000119335; HGNC ID: 10760
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SET|6418|nucleotide
ATGGCCCCTAAACGCCAGTCTCCACTCCCGCCTCAAAAGAAGAAACCAAGACCACCTCCTGCTCTGGGACCGGAGGAGACATCGGCCTCTGCAGGCTTGCCGAAG
AAGGGAGAAAAAGAACAGCAAGAAGCGATTGAACACATTGATGAAGTACAAAATGAAATAGACAGACTTAATGAACAAGCCAGTGAGGAGATTTTGAAAGTAGAA
CAGAAATATAACAAACTCCGCCAACCATTTTTTCAGAAGAGGTCAGAATTGATCGCCAAAATCCCAAATTTTTGGGTAACAACATTTGTCAACCATCCACAAGTG
TCTGCACTGCTTGGGGAGGAAGATGAAGAGGCACTGCATTATTTGACCAGAGTTGAAGTGACAGAATTTGAAGATATTAAATCAGGTTACAGAATAGATTTTTAT
TTTGATGAAAATCCTTACTTTGAAAATAAAGTTCTCTCCAAAGAATTTCATCTGAATGAGAGTGGTGATCCATCTTCGAAGTCCACCGAAATCAAATGGAAATCT
GGAAAGGATTTGACGAAACGTTCGAGTCAAACGCAGAATAAAGCCAGCAGGAAGAGGCAGCATGAGGAACCAGAGAGCTTCTTTACCTGGTTTACTGACCATTCT
GATGCAGGTGCTGATGAGTTAGGAGAGGTCATCAAAGATGATATTTGGCCAAACCCATTACAGTACTACTTGGTTCCCGATATGGATGATGAAGAAGGAGAAGGA
GAAGAAGATGATGATGATGATGAAGAGGAGGAAGGATTAGAAGATATTGACGAAGAAGGGGATGAGGATGAAGGTGAAGAAGATGAAGATGATGATGAAGGGGAG
GAAGGAGAGGAGGATGAAGGAGAAGATGACTAA


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>SET|6418|protein
MAPKRQSPLPPQKKKPRPPPALGPEETSASAGLPKKGEKEQQEAIEHIDEVQNEIDRLNEQASEEILKVEQKYNKLRQPFFQKRSELIAKIPNFWVTTFVNHPQV
SALLGEEDEEALHYLTRVEVTEFEDIKSGYRIDFYFDENPYFENKVLSKEFHLNESGDPSSKSTEIKWKSGKDLTKRSSQTQNKASRKRQHEEPESFFTWFTDHS
DAGADELGEVIKDDIWPNPLQYYLVPDMDDEEGEGEEDDDDDEEEEGLEDIDEEGDEDEGEEDEDDDEGEEGEEDEGEDD


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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) 0 (3) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top