Evidence Details for PHYHIP
Basic Information Top
| Gene Symbol: | PHYHIP ( DYRK1AP3,KIAA0273,PAHX-AP,PAHXAP1 ) |
|---|---|
| Gene Full Name: | phytanoyl-CoA 2-hydroxylase interacting protein |
| Band: | 8p21.3 |
| Quick Links | Entrez ID:9796; OMIM: 608511; Uniprot ID:PHYIP_HUMAN; ENSEMBL ID: ENSG00000168490; HGNC ID: 16865 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PHYHIP|9796|nucleotide
ATGGAGCTGCTGTCCACGCCCCACAGCATTGAGATCAACAACATCACCTGCGACTCCTTCCGCATCTCCTGGGCCATGGAGGACAGTGACCTGGAGAGGGTCACC
CATTACTTCATTGACCTTAACAAGAAGGAGAATAAGAATTCCAACAAGTTCAAGCACCGGGACGTCCCCACCAAGCTCGTGGCCAAGGCAGTGCCGCTGCCCATG
ACGGTGAGAGGCCACTGGTTCCTGAGCCCCCGCACGGAGTACAGTGTGGCCGTGCAGACGGCAGTGAAGCAGAGCGATGGGGAGTACCTGGTGTCCGGCTGGAGC
GAGACGGTGGAGTTCTGCACTGGGGATTATGCCAAGGAGCACCTGGCTCAGCTTCAGGAGAAAGCTGAGCAGATCGCAGGCCGCATGCTCCGCTTCTCCGTCTTC
TACCGCAACCATCACAAGGAGTACTTCCAGCATGCCAGGACCCACTGCGGGAACATGCTGCAGCCTTACCTGAAGGACAACAGCGGCAGCCACGGCTCCCCCACC
AGCGGTATGCTCCACGGGGTCTTCTTCAGCTGCAACACGGAGTTCAACACGGGCCAGCCCCCGCAGGACTCCCCCTACGGCCGCTGGCGCTTCCAGATCCCAGCT
CAGCGCCTCTTCAATCCCAGCACCAACCTCTACTTTGCGGACTTCTACTGCATGTACACGGCCTACCACTACGCCATCCTGGTGCTGGCGCCCAAAGGCTCCCTG
GGGGACCGCTTCTGCCGCGACCGCCTGCCCCTCCTGGACATTGCTTGCAACAAGTTCCTGACCTGCAGCGTGGAGGATGGGGAGCTGGTCTTCCGCCACGCCCAG
GACCTCATCCTGGAGATCATCTACACTGAGCCCGTCGACCTGTCCCTGGGCACCCTGGGGGAGATCAGTGGGCACCAGCTCATGAGTCTGTCTACTGCCGATGCC
AAGAAGGACCCCAGCTGCAAGACCTGCAACATCAGCGTGGGCCGCTAG
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ATGGAGCTGCTGTCCACGCCCCACAGCATTGAGATCAACAACATCACCTGCGACTCCTTCCGCATCTCCTGGGCCATGGAGGACAGTGACCTGGAGAGGGTCACC
CATTACTTCATTGACCTTAACAAGAAGGAGAATAAGAATTCCAACAAGTTCAAGCACCGGGACGTCCCCACCAAGCTCGTGGCCAAGGCAGTGCCGCTGCCCATG
ACGGTGAGAGGCCACTGGTTCCTGAGCCCCCGCACGGAGTACAGTGTGGCCGTGCAGACGGCAGTGAAGCAGAGCGATGGGGAGTACCTGGTGTCCGGCTGGAGC
GAGACGGTGGAGTTCTGCACTGGGGATTATGCCAAGGAGCACCTGGCTCAGCTTCAGGAGAAAGCTGAGCAGATCGCAGGCCGCATGCTCCGCTTCTCCGTCTTC
TACCGCAACCATCACAAGGAGTACTTCCAGCATGCCAGGACCCACTGCGGGAACATGCTGCAGCCTTACCTGAAGGACAACAGCGGCAGCCACGGCTCCCCCACC
AGCGGTATGCTCCACGGGGTCTTCTTCAGCTGCAACACGGAGTTCAACACGGGCCAGCCCCCGCAGGACTCCCCCTACGGCCGCTGGCGCTTCCAGATCCCAGCT
CAGCGCCTCTTCAATCCCAGCACCAACCTCTACTTTGCGGACTTCTACTGCATGTACACGGCCTACCACTACGCCATCCTGGTGCTGGCGCCCAAAGGCTCCCTG
GGGGACCGCTTCTGCCGCGACCGCCTGCCCCTCCTGGACATTGCTTGCAACAAGTTCCTGACCTGCAGCGTGGAGGATGGGGAGCTGGTCTTCCGCCACGCCCAG
GACCTCATCCTGGAGATCATCTACACTGAGCCCGTCGACCTGTCCCTGGGCACCCTGGGGGAGATCAGTGGGCACCAGCTCATGAGTCTGTCTACTGCCGATGCC
AAGAAGGACCCCAGCTGCAAGACCTGCAACATCAGCGTGGGCCGCTAG
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>PHYHIP|9796|protein
MELLSTPHSIEINNITCDSFRISWAMEDSDLERVTHYFIDLNKKENKNSNKFKHRDVPTKLVAKAVPLPMTVRGHWFLSPRTEYSVAVQTAVKQSDGEYLVSGWS
ETVEFCTGDYAKEHLAQLQEKAEQIAGRMLRFSVFYRNHHKEYFQHARTHCGNMLQPYLKDNSGSHGSPTSGMLHGVFFSCNTEFNTGQPPQDSPYGRWRFQIPA
QRLFNPSTNLYFADFYCMYTAYHYAILVLAPKGSLGDRFCRDRLPLLDIACNKFLTCSVEDGELVFRHAQDLILEIIYTEPVDLSLGTLGEISGHQLMSLSTADA
KKDPSCKTCNISVGR
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MELLSTPHSIEINNITCDSFRISWAMEDSDLERVTHYFIDLNKKENKNSNKFKHRDVPTKLVAKAVPLPMTVRGHWFLSPRTEYSVAVQTAVKQSDGEYLVSGWS
ETVEFCTGDYAKEHLAQLQEKAEQIAGRMLRFSVFYRNHHKEYFQHARTHCGNMLQPYLKDNSGSHGSPTSGMLHGVFFSCNTEFNTGQPPQDSPYGRWRFQIPA
QRLFNPSTNLYFADFYCMYTAYHYAILVLAPKGSLGDRFCRDRLPLLDIACNKFLTCSVEDGELVFRHAQDLILEIIYTEPVDLSLGTLGEISGHQLMSLSTADA
KKDPSCKTCNISVGR
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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) | 1 (3) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 5 (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 | ||||||
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Ozgen, 2009 | - | aCGH, SNP microarray | | | ASD | 55 | - | - | - | - | - | - |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen | | | PDD | 99 | - | 99 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.901772 | Down | 26.4019 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top 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.