AutismKB 2.0

Evidence Details for ESPL1


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Basic Information Top
Gene Symbol:ESPL1 ( ESP1,FLJ46492,KIAA0165 )
Gene Full Name: extra spindle pole bodies homolog 1 (S. cerevisiae)
Band: 12q13.13
Quick LinksEntrez ID:9700; OMIM: 604143; Uniprot ID:ESPL1_HUMAN; ENSEMBL ID: ENSG00000135476; HGNC ID: 16856
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ESPL1|9700|nucleotide
ATGAGGAGCTTCAAAAGAGTCAACTTTGGGACTCTGCTAAGCAGCCAGAAGGAGGCTGAAGAGTTGCTGCCCGCCTTGAAGGAGTTCCTGTCCAACCCTCCAGCT
GGTTTTCCCAGCAGCCGATCTGATGCTGAGAGGAGACAAGCTTGTGATGCCATCCTGAGGGCTTGCAACCAGCAGCTGACTGCTAAGCTAGCTTGCCCTAGGCAT
CTGGGGAGCCTGCTGGAGCTGGCAGAGCTGGCCTGTGATGGCTACTTAGTGTCTACCCCACAGCGTCCTCCCCTCTACCTGGAACGAATTCTCTTTGTCTTACTG
CGGAATGCTGCTGCACAAGGAAGCCCAGAGGCCACACTCCGCCTTGCTCAGCCCCTCCATGCCTGCTTGGTGCAGTGCTCTCGCGAGGCTGCTCCCCAGGACTAT
GAGGCCGTGGCTCGGGGCAGCTTTTCTCTGCTTTGGAAGGGGGCAGAAGCCCTGTTGGAACGGCGAGCTGCATTTGCAGCTCGGCTGAAGGCCTTGAGCTTCCTA
GTACTCTTGGAGGATGAAAGTACCCCTTGTGAGGTTCCTCACTTTGCTTCTCCAACAGCCTGTCGAGCGGTAGCTGCCCATCAGCTATTTGATGCCAGTGGCCAT
GGTCTAAATGAAGCAGATGCTGATTTCCTAGATGACCTGCTCTCCAGGCACGTGATCAGAGCCTTGGTGGGTGAGAGAGGGAGCTCTTCTGGGCTTCTTTCTCCC
CAGAGGGCCCTCTGCCTCTTGGAGCTCACCTTGGAACACTGCCGTCGCTTTTGCTGGAGCCGCCACCATGACAAAGCCATCAGCGCAGTGGAGAAGGCTCACAGT
TACCTAAGGAACACCAATCTAGCCCCTAGCCTTCAGCTATGTCAGCTGGGGGTTAAGCTGCTGCAGGTTGGGGAGGAAGGACCTCAGGCAGTGGCCAAGCTTCTG
ATCAAGGCATCAGCTGTCCTGAGCAAGAGTATGGAGGCACCATCACCCCCACTTCGGGCATTGTATGAGAGCTGCCAGTTCTTCCTTTCAGGCCTGGAACGAGGC
ACCAAGAGGCGCTATAGACTTGATGCCATTCTGAGCCTCTTTGCTTTTCTTGGAGGGTACTGCTCTCTTCTGCAGCAGCTGCGGGATGATGGTGTGTATGGGGGC
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>ESPL1|9700|protein
MRSFKRVNFGTLLSSQKEAEELLPALKEFLSNPPAGFPSSRSDAERRQACDAILRACNQQLTAKLACPRHLGSLLELAELACDGYLVSTPQRPPLYLERILFVLL
RNAAAQGSPEATLRLAQPLHACLVQCSREAAPQDYEAVARGSFSLLWKGAEALLERRAAFAARLKALSFLVLLEDESTPCEVPHFASPTACRAVAAHQLFDASGH
GLNEADADFLDDLLSRHVIRALVGERGSSSGLLSPQRALCLLELTLEHCRRFCWSRHHDKAISAVEKAHSYLRNTNLAPSLQLCQLGVKLLQVGEEGPQAVAKLL
IKASAVLSKSMEAPSPPLRALYESCQFFLSGLERGTKRRYRLDAILSLFAFLGGYCSLLQQLRDDGVYGGSSKQQQSFLQMYFQGLHLYTVVVYDFAQGCQIVDL
ADLTQLVDSCKSTVVWMLEALEGLSGQELTDHMGMTASYTSNLAYSFYSHKLYAEACAISEPLCQHLGLVKPGTYPEVPPEKLHRCFRLQVESLKKLGKQAQGCK
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top