Evidence Details for PHF23
Basic Information Top
| Gene Symbol: | PHF23 ( FLJ16355,FLJ22884,MGC2941,hJUNE-1b ) |
|---|---|
| Gene Full Name: | PHD finger protein 23 |
| Band: | 17p13.1 |
| Quick Links | Entrez ID:79142; OMIM: 612910; Uniprot ID:PHF23_HUMAN; ENSEMBL ID: ENSG00000040633; HGNC ID: 28428 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PHF23|79142|nucleotide
ATGCTGGAAGCCATGGCGGAGCCCAGTCCCGAAGATCCACCTCCGACCCTTAAGCCAGAGACTCAGCCACCAGAGAAACGGCGGAGAACAATTGAGGATTTCAAC
AAATTCTGCAGTTTTGTTTTGGCATATGCTGGTTACATTCCCCCTAGCAAAGAGGAAAGTGACTGGCCAGCCTCTGGCTCCAGCTCTCCATTGCGAGGAGAGAGT
GCGGCCGACAGTGATGGCTGGGACTCGGCCCCCTCAGATCTTCGAACCATCCAGACTTTTGTTAAGAAAGCAAAGTCATCCAAGAGAAGGGCAGCTCAAGCAGGT
CCCACCCAGCCAGGACCCCCAAGGTCCACTTTCTCTCGTCTGCAGGCCCCCGACAGTGCTACCTTGCTTGAGAAGATGAAGCTCAAGGACTCTCTCTTTGATCTG
GATGGGCCCAAAGTGGCATCTCCTTTGTCCCCCACATCCCTGACACATACCTCCCGGCCCCCTGCTGCTCTTACCCCCGTGCCCCTTTCCCAGGGGGACCTCTCC
CATCCTCCTCGAAAGAAGGACCGAAAGAACCGAAAGTTGGGGCCAGGAGCTGGGGCTGGCTTTGGGGTGCTTCGGAGGCCTCGGCCAACTCCTGGGGATGGGGAA
AAGAGATCTCGAATCAAGAAGAGCAAGAAGCGGAAGTTAAAAAAGGCAGAACGGGGGGATAGACTCCCACCTCCTGGGCCTCCCCAGGCACCCCCCAGTGATACA
GACTCTGAAGAGGAGGAGGAAGAGGAGGAAGAGGAAGAAGAAGAAGAGATGGCAACAGTGGTAGGGGGTGAAGCCCCAGTCCCTGTGCTGCCAACACCCCCTGAG
GCTCCTAGGCCCCCTGCCACAGTGCACCCTGAAGGAGTCCCTCCTGCTGACAGTGAAAGCAAGGAGGTGGGCAGCACTGAAACAAGCCAAGATGGAGATGCCAGC
TCCAGTGAAGGCGAGATGCGGGTCATGGACGAGGACATCATGGTAGAATCAGGTGATGACTCATGGGATCTGATCACATGTTACTGTCGAAAGCCCTTTGCAGGG
CGGCCCATGATTGAGTGCAGCCTGTGTGGGACGTGGATCCACCTCTCCTGTGCTAAGATTAAGAAGACCAACGTCCCCGACTTCTTTTATTGCCAGAAATGCAAG
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ATGCTGGAAGCCATGGCGGAGCCCAGTCCCGAAGATCCACCTCCGACCCTTAAGCCAGAGACTCAGCCACCAGAGAAACGGCGGAGAACAATTGAGGATTTCAAC
AAATTCTGCAGTTTTGTTTTGGCATATGCTGGTTACATTCCCCCTAGCAAAGAGGAAAGTGACTGGCCAGCCTCTGGCTCCAGCTCTCCATTGCGAGGAGAGAGT
GCGGCCGACAGTGATGGCTGGGACTCGGCCCCCTCAGATCTTCGAACCATCCAGACTTTTGTTAAGAAAGCAAAGTCATCCAAGAGAAGGGCAGCTCAAGCAGGT
CCCACCCAGCCAGGACCCCCAAGGTCCACTTTCTCTCGTCTGCAGGCCCCCGACAGTGCTACCTTGCTTGAGAAGATGAAGCTCAAGGACTCTCTCTTTGATCTG
GATGGGCCCAAAGTGGCATCTCCTTTGTCCCCCACATCCCTGACACATACCTCCCGGCCCCCTGCTGCTCTTACCCCCGTGCCCCTTTCCCAGGGGGACCTCTCC
CATCCTCCTCGAAAGAAGGACCGAAAGAACCGAAAGTTGGGGCCAGGAGCTGGGGCTGGCTTTGGGGTGCTTCGGAGGCCTCGGCCAACTCCTGGGGATGGGGAA
AAGAGATCTCGAATCAAGAAGAGCAAGAAGCGGAAGTTAAAAAAGGCAGAACGGGGGGATAGACTCCCACCTCCTGGGCCTCCCCAGGCACCCCCCAGTGATACA
GACTCTGAAGAGGAGGAGGAAGAGGAGGAAGAGGAAGAAGAAGAAGAGATGGCAACAGTGGTAGGGGGTGAAGCCCCAGTCCCTGTGCTGCCAACACCCCCTGAG
GCTCCTAGGCCCCCTGCCACAGTGCACCCTGAAGGAGTCCCTCCTGCTGACAGTGAAAGCAAGGAGGTGGGCAGCACTGAAACAAGCCAAGATGGAGATGCCAGC
TCCAGTGAAGGCGAGATGCGGGTCATGGACGAGGACATCATGGTAGAATCAGGTGATGACTCATGGGATCTGATCACATGTTACTGTCGAAAGCCCTTTGCAGGG
CGGCCCATGATTGAGTGCAGCCTGTGTGGGACGTGGATCCACCTCTCCTGTGCTAAGATTAAGAAGACCAACGTCCCCGACTTCTTTTATTGCCAGAAATGCAAG
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>PHF23|79142|protein
MLEAMAEPSPEDPPPTLKPETQPPEKRRRTIEDFNKFCSFVLAYAGYIPPSKEESDWPASGSSSPLRGESAADSDGWDSAPSDLRTIQTFVKKAKSSKRRAAQAG
PTQPGPPRSTFSRLQAPDSATLLEKMKLKDSLFDLDGPKVASPLSPTSLTHTSRPPAALTPVPLSQGDLSHPPRKKDRKNRKLGPGAGAGFGVLRRPRPTPGDGE
KRSRIKKSKKRKLKKAERGDRLPPPGPPQAPPSDTDSEEEEEEEEEEEEEEMATVVGGEAPVPVLPTPPEAPRPPATVHPEGVPPADSESKEVGSTETSQDGDAS
SSEGEMRVMDEDIMVESGDDSWDLITCYCRKPFAGRPMIECSLCGTWIHLSCAKIKKTNVPDFFYCQKCKELRPEARRLGGPPKSGEP
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MLEAMAEPSPEDPPPTLKPETQPPEKRRRTIEDFNKFCSFVLAYAGYIPPSKEESDWPASGSSSPLRGESAADSDGWDSAPSDLRTIQTFVKKAKSSKRRAAQAG
PTQPGPPRSTFSRLQAPDSATLLEKMKLKDSLFDLDGPKVASPLSPTSLTHTSRPPAALTPVPLSQGDLSHPPRKKDRKNRKLGPGAGAGFGVLRRPRPTPGDGE
KRSRIKKSKKRKLKKAERGDRLPPPGPPQAPPSDTDSEEEEEEEEEEEEEEMATVVGGEAPVPVLPTPPEAPRPPATVHPEGVPPADSESKEVGSTETSQDGDAS
SSEGEMRVMDEDIMVESGDDSWDLITCYCRKPFAGRPMIECSLCGTWIHLSCAKIKKTNVPDFFYCQKCKELRPEARRLGGPPKSGEP
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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 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
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 | ||||||
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top