Evidence Details for STAU2
Basic Information Top
Gene Symbol: | STAU2 ( 39K2,39K3,DKFZp781K0371,MGC119606 ) |
---|---|
Gene Full Name: | staufen, RNA binding protein, homolog 2 (Drosophila) |
Band: | 8q21.11 |
Quick Links | Entrez ID:27067; OMIM: 605920; Uniprot ID:STAU2_HUMAN; ENSEMBL ID: ENSG00000040341; HGNC ID: 11371 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>STAU2|27067|nucleotide
ATGGCAAACCCAAAAGAGAAAACTGCAATGTGTCTGGTAAATGAGTTAGCCCGTTTCAATAGAGTCCAACCCCAGTATAAACTTCTGAATGAAAGAGGGCCTGCT
CATTCAAAGATGTTCTCAGTGCAGCTGAGTCTTGGTGAGCAGACATGGGAATCCGAAGGCAGCAGTATAAAGAAGGCTCAGCAGGCTGTTGCCAATAAAGCTTTG
ACTGAATCTACGCTTCCCAAACCAGTTCAGAAGCCACCCAAAAGTAATGTTAACAATAACCCAGGCAGTATAACTCCAACTGTGGAACTGAATGGGCTTGCTATG
AAAAGGGGAGAGCCTGCCATCTACAGGCCATTAGATCCAAAGCCATTCCCAAATTATAGAGCTAATTACAACTTTCGGGGCATGTACAATCAGAGGTATCATTGC
CCAGTGCCTAAGATCTTTTATGTTCAGCTCACTGTAGGAAATAATGAATTTTTTGGGGAAGGAAAGACTCGACAAGCTGCTAGACACAATGCTGCAATGAAAGCC
CTCCAAGCACTGCAGAATGAACCTATTCCAGAAAGATCTCCTCAGAATGGTGAATCAGGAAAGGATGTGGATGATGACAAAGATGCAAATAAGTCTGAGATCAGC
TTAGTGTTTGAAATTGCTCTGAAGCGAAATATGCCTGTCAGTTTTGAGGTTATTAAAGAAAGTGGACCACCACATATGAAAAGCTTTGTTACTCGAGTGTCAGTA
GGAGAGTTCTCTGCAGAAGGAGAAGGAAATAGCAAAAAACTCTCCAAGAAGCGCGCTGCGACCACCGTCTTACAGGAGCTTAAAAAACTTCCACCTCTTCCTGTG
GTGGAAAAGCCAAAACTATTTTTTAAAAAACGCCCTAAAACAATAGTAAAGGCCGGACCAGAATATGGCCAAGGGATGAACCCTATTAGCCGCCTGGCGCAAATT
CAACAGGCCAAAAAGGAAAAGGAGCCGGATTATGTTTTGCTTTCAGAAAGAGGAATGCCTCGACGTCGAGAATTTGTGATGCAGGTGAAGGTAGGCAATGAAGTT
GCTACAGGAACAGGACCTAATAAAAAGATAGCCAAAAAAAATGCTGCAGAAGCAATGCTGTTACAACTTGGTTATAAAGCATCCACTAATCTTCAGGATCAACTT
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ATGGCAAACCCAAAAGAGAAAACTGCAATGTGTCTGGTAAATGAGTTAGCCCGTTTCAATAGAGTCCAACCCCAGTATAAACTTCTGAATGAAAGAGGGCCTGCT
CATTCAAAGATGTTCTCAGTGCAGCTGAGTCTTGGTGAGCAGACATGGGAATCCGAAGGCAGCAGTATAAAGAAGGCTCAGCAGGCTGTTGCCAATAAAGCTTTG
ACTGAATCTACGCTTCCCAAACCAGTTCAGAAGCCACCCAAAAGTAATGTTAACAATAACCCAGGCAGTATAACTCCAACTGTGGAACTGAATGGGCTTGCTATG
AAAAGGGGAGAGCCTGCCATCTACAGGCCATTAGATCCAAAGCCATTCCCAAATTATAGAGCTAATTACAACTTTCGGGGCATGTACAATCAGAGGTATCATTGC
CCAGTGCCTAAGATCTTTTATGTTCAGCTCACTGTAGGAAATAATGAATTTTTTGGGGAAGGAAAGACTCGACAAGCTGCTAGACACAATGCTGCAATGAAAGCC
CTCCAAGCACTGCAGAATGAACCTATTCCAGAAAGATCTCCTCAGAATGGTGAATCAGGAAAGGATGTGGATGATGACAAAGATGCAAATAAGTCTGAGATCAGC
TTAGTGTTTGAAATTGCTCTGAAGCGAAATATGCCTGTCAGTTTTGAGGTTATTAAAGAAAGTGGACCACCACATATGAAAAGCTTTGTTACTCGAGTGTCAGTA
GGAGAGTTCTCTGCAGAAGGAGAAGGAAATAGCAAAAAACTCTCCAAGAAGCGCGCTGCGACCACCGTCTTACAGGAGCTTAAAAAACTTCCACCTCTTCCTGTG
GTGGAAAAGCCAAAACTATTTTTTAAAAAACGCCCTAAAACAATAGTAAAGGCCGGACCAGAATATGGCCAAGGGATGAACCCTATTAGCCGCCTGGCGCAAATT
CAACAGGCCAAAAAGGAAAAGGAGCCGGATTATGTTTTGCTTTCAGAAAGAGGAATGCCTCGACGTCGAGAATTTGTGATGCAGGTGAAGGTAGGCAATGAAGTT
GCTACAGGAACAGGACCTAATAAAAAGATAGCCAAAAAAAATGCTGCAGAAGCAATGCTGTTACAACTTGGTTATAAAGCATCCACTAATCTTCAGGATCAACTT
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>STAU2|27067|protein
MANPKEKTAMCLVNELARFNRVQPQYKLLNERGPAHSKMFSVQLSLGEQTWESEGSSIKKAQQAVANKALTESTLPKPVQKPPKSNVNNNPGSITPTVELNGLAM
KRGEPAIYRPLDPKPFPNYRANYNFRGMYNQRYHCPVPKIFYVQLTVGNNEFFGEGKTRQAARHNAAMKALQALQNEPIPERSPQNGESGKDVDDDKDANKSEIS
LVFEIALKRNMPVSFEVIKESGPPHMKSFVTRVSVGEFSAEGEGNSKKLSKKRAATTVLQELKKLPPLPVVEKPKLFFKKRPKTIVKAGPEYGQGMNPISRLAQI
QQAKKEKEPDYVLLSERGMPRRREFVMQVKVGNEVATGTGPNKKIAKKNAAEAMLLQLGYKASTNLQDQLEKTGENKGWSGPKPGFPEPTNNTPKGILHLSPDVY
QEMEASRHKVISGTTLGYLSPKDMNQPSSSFFSISPTSNSSATIARELLMNGTSSTAEAIGLKGSSPTPPCSPVQPSKQLEYLARIQGFQAALSALKQFSEQGLD
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MANPKEKTAMCLVNELARFNRVQPQYKLLNERGPAHSKMFSVQLSLGEQTWESEGSSIKKAQQAVANKALTESTLPKPVQKPPKSNVNNNPGSITPTVELNGLAM
KRGEPAIYRPLDPKPFPNYRANYNFRGMYNQRYHCPVPKIFYVQLTVGNNEFFGEGKTRQAARHNAAMKALQALQNEPIPERSPQNGESGKDVDDDKDANKSEIS
LVFEIALKRNMPVSFEVIKESGPPHMKSFVTRVSVGEFSAEGEGNSKKLSKKRAATTVLQELKKLPPLPVVEKPKLFFKKRPKTIVKAGPEYGQGMNPISRLAQI
QQAKKEKEPDYVLLSERGMPRRREFVMQVKVGNEVATGTGPNKKIAKKNAAEAMLLQLGYKASTNLQDQLEKTGENKGWSGPKPGFPEPTNNTPKGILHLSPDVY
QEMEASRHKVISGTTLGYLSPKDMNQPSSSFFSISPTSNSSATIARELLMNGTSSTAEAIGLKGSSPTPPCSPVQPSKQLEYLARIQGFQAALSALKQFSEQGLD
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Evidence summary Top
Click 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 |
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Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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