Evidence Details for ESPL1
Basic Information Top
| Gene Symbol: | ESPL1 ( ESP1,FLJ46492,KIAA0165 ) |
|---|---|
| Gene Full Name: | extra spindle pole bodies homolog 1 (S. cerevisiae) |
| Band: | 12q13.13 |
| Quick Links | Entrez 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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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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MRSFKRVNFGTLLSSQKEAEELLPALKEFLSNPPAGFPSSRSDAERRQACDAILRACNQQLTAKLACPRHLGSLLELAELACDGYLVSTPQRPPLYLERILFVLL
RNAAAQGSPEATLRLAQPLHACLVQCSREAAPQDYEAVARGSFSLLWKGAEALLERRAAFAARLKALSFLVLLEDESTPCEVPHFASPTACRAVAAHQLFDASGH
GLNEADADFLDDLLSRHVIRALVGERGSSSGLLSPQRALCLLELTLEHCRRFCWSRHHDKAISAVEKAHSYLRNTNLAPSLQLCQLGVKLLQVGEEGPQAVAKLL
IKASAVLSKSMEAPSPPLRALYESCQFFLSGLERGTKRRYRLDAILSLFAFLGGYCSLLQQLRDDGVYGGSSKQQQSFLQMYFQGLHLYTVVVYDFAQGCQIVDL
ADLTQLVDSCKSTVVWMLEALEGLSGQELTDHMGMTASYTSNLAYSFYSHKLYAEACAISEPLCQHLGLVKPGTYPEVPPEKLHRCFRLQVESLKKLGKQAQGCK
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | |  | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.