Evidence Details for POU3F1
Basic Information Top
Gene Symbol: | POU3F1 ( OCT6,OTF6,SCIP ) |
---|---|
Gene Full Name: | POU class 3 homeobox 1 |
Band: | 1p34.3 |
Quick Links | Entrez ID:5453; OMIM: 602479; Uniprot ID:PO3F1_HUMAN; ENSEMBL ID: ENSG00000185668; HGNC ID: 9214 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>POU3F1|5453|nucleotide
ATGGCCACCACCGCGCAGTACCTGCCGCGGGGCCCCGGTGGCGGAGCCGGGGGCACCGGGCCGCTTATGCACCCGGACGCCGCGGCGGCGGCGGCGGCGGCGGCG
GCCGCGGAGCGATTGCATGCAGGGGCCGCGTACCGCGAAGTGCAGAAGCTGATGCACCACGAGTGGCTGGGCGCGGGCGCGGGCCACCCCGTGGGCCTAGCGCAC
CCCCAGTGGCTACCCACGGGAGGAGGCGGCGGCGGCGATTGGGCCGGCGGCCCGCACCTAGAACACGGCAAGGCAGGCGGCGGCGGCACCGGCCGAGCCGACGAC
GGCGGCGGCGGCGGAGGTTTCCACGCGCGCCTGGTGCACCAGGGGGCGGCCCACGCGGGCGCGGCATGGGCGCAGGGCAGCACAGCGCACCACTTGGGCCCGGCC
ATGTCGCCCTCGCCCGGGGCCAGCGGGGGCCACCAGCCCCAGCCGCTCGGGCTGTACGCGCAGGCGGCCTACCCGGGGGGCGGCGGCGGCGGCCTGGCCGGGATG
CTGGCGGCGGGCGGTGGCGGCGCGGGGCCGGGCCTGCACCACGCGCTGCACGAGGATGGCCACGAGGCGCAGCTGGAGCCGTCGCCGCCGCCGCATCTGGGCGCC
CACGGACACGCACACGGACATGCACACGCGGGCGGCCTGCACGCGGCGGCGGCGCACCTGCACCCGGGCGCGGGCGGCGGCGGCTCATCGGTGGGCGAGCACTCG
GACGAGGATGCGCCCAGCTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTTACGCAGGCCGACGTGGGGCTGGCGCTG
GGCACGCTCTACGGTAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTCAACAAG
TGGCTGGAGGAGACCGACTCGTCCAGCGGCAGCCCCACCAACCTGGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGCACGTCCATCGAGGTGGGGGTC
AAAGGCGCGCTCGAGAGCCACTTTCTCAAGTGCCCCAAGCCCTCGGCGCACGAGATCACCGGCTTGGCAGACAGCCTGCAGCTGGAGAAGGAGGTGGTGCGCGTC
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ATGGCCACCACCGCGCAGTACCTGCCGCGGGGCCCCGGTGGCGGAGCCGGGGGCACCGGGCCGCTTATGCACCCGGACGCCGCGGCGGCGGCGGCGGCGGCGGCG
GCCGCGGAGCGATTGCATGCAGGGGCCGCGTACCGCGAAGTGCAGAAGCTGATGCACCACGAGTGGCTGGGCGCGGGCGCGGGCCACCCCGTGGGCCTAGCGCAC
CCCCAGTGGCTACCCACGGGAGGAGGCGGCGGCGGCGATTGGGCCGGCGGCCCGCACCTAGAACACGGCAAGGCAGGCGGCGGCGGCACCGGCCGAGCCGACGAC
GGCGGCGGCGGCGGAGGTTTCCACGCGCGCCTGGTGCACCAGGGGGCGGCCCACGCGGGCGCGGCATGGGCGCAGGGCAGCACAGCGCACCACTTGGGCCCGGCC
ATGTCGCCCTCGCCCGGGGCCAGCGGGGGCCACCAGCCCCAGCCGCTCGGGCTGTACGCGCAGGCGGCCTACCCGGGGGGCGGCGGCGGCGGCCTGGCCGGGATG
CTGGCGGCGGGCGGTGGCGGCGCGGGGCCGGGCCTGCACCACGCGCTGCACGAGGATGGCCACGAGGCGCAGCTGGAGCCGTCGCCGCCGCCGCATCTGGGCGCC
CACGGACACGCACACGGACATGCACACGCGGGCGGCCTGCACGCGGCGGCGGCGCACCTGCACCCGGGCGCGGGCGGCGGCGGCTCATCGGTGGGCGAGCACTCG
GACGAGGATGCGCCCAGCTCGGACGACCTGGAGCAGTTCGCCAAGCAGTTCAAGCAGCGGCGCATCAAGCTGGGCTTTACGCAGGCCGACGTGGGGCTGGCGCTG
GGCACGCTCTACGGTAACGTGTTCTCGCAGACCACCATCTGCCGCTTCGAGGCCCTGCAGCTGAGCTTCAAGAACATGTGCAAGCTCAAGCCGCTGCTCAACAAG
TGGCTGGAGGAGACCGACTCGTCCAGCGGCAGCCCCACCAACCTGGACAAGATCGCGGCGCAGGGCCGCAAGCGCAAGAAGCGCACGTCCATCGAGGTGGGGGTC
AAAGGCGCGCTCGAGAGCCACTTTCTCAAGTGCCCCAAGCCCTCGGCGCACGAGATCACCGGCTTGGCAGACAGCCTGCAGCTGGAGAAGGAGGTGGTGCGCGTC
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>POU3F1|5453|protein
MATTAQYLPRGPGGGAGGTGPLMHPDAAAAAAAAAAAERLHAGAAYREVQKLMHHEWLGAGAGHPVGLAHPQWLPTGGGGGGDWAGGPHLEHGKAGGGGTGRADD
GGGGGGFHARLVHQGAAHAGAAWAQGSTAHHLGPAMSPSPGASGGHQPQPLGLYAQAAYPGGGGGGLAGMLAAGGGGAGPGLHHALHEDGHEAQLEPSPPPHLGA
HGHAHGHAHAGGLHAAAAHLHPGAGGGGSSVGEHSDEDAPSSDDLEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQLSFKNMCKLKPLLNK
WLEETDSSSGSPTNLDKIAAQGRKRKKRTSIEVGVKGALESHFLKCPKPSAHEITGLADSLQLEKEVVRVWFCNRRQKEKRMTPAAGAGHPPMDDVYAPGELGPG
GGGASPPSAPPPPPPAALHHHHHHTLPGSVQ
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MATTAQYLPRGPGGGAGGTGPLMHPDAAAAAAAAAAAERLHAGAAYREVQKLMHHEWLGAGAGHPVGLAHPQWLPTGGGGGGDWAGGPHLEHGKAGGGGTGRADD
GGGGGGFHARLVHQGAAHAGAAWAQGSTAHHLGPAMSPSPGASGGHQPQPLGLYAQAAYPGGGGGGLAGMLAAGGGGAGPGLHHALHEDGHEAQLEPSPPPHLGA
HGHAHGHAHAGGLHAAAAHLHPGAGGGGSSVGEHSDEDAPSSDDLEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQLSFKNMCKLKPLLNK
WLEETDSSSGSPTNLDKIAAQGRKRKKRTSIEVGVKGALESHFLKCPKPSAHEITGLADSLQLEKEVVRVWFCNRRQKEKRMTPAAGAGHPPMDDVYAPGELGPG
GGGASPPSAPPPPPPAALHHHHHHTLPGSVQ
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|
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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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