Evidence Details for PPIL2
Basic Information Top
| Gene Symbol: | PPIL2 ( CYC4,CYP60,Cyp-60,FLJ39930,MGC33174,MGC787,hCyP-60 ) |
|---|---|
| Gene Full Name: | peptidylprolyl isomerase (cyclophilin)-like 2 |
| Band: | 22q11.21 |
| Quick Links | Entrez ID:23759; OMIM: 607588; Uniprot ID:PPIL2_HUMAN; ENSEMBL ID: ENSG00000100023; HGNC ID: 9261 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PPIL2|23759|nucleotide
ATGGGGAAGCGACAGCACCAAAAGGACAAAATGTACATTACCTGTGCTGAATACACTCACTTTTATGGTGGCAAGAAGCCAGATCTCCCACAAACAAATTTTCGT
CGTTTACCTTTTGACCACTGCAGTCTCTCTCTGCAGCCCTTTGTCTACCCAGTCTGCACTCCCGATGGCATCGTCTTTGACTTACTGAACATTGTTCCATGGCTT
AAGAAGTACGGGACCAACCCCAGCAATGGAGAGAAGCTGGACGGGAGGTCCCTGATCAAGCTGAACTTTTCCAAGAACAGTGAGGGGAAGTACCACTGCCCAGTG
CTGTTTACCGTGTTCACCAACAACACCCACATCGTGGCTGTGAGGACGACCGGCAACGTCTACGCCTATGAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAAC
TTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGACCCCACCAATTTGGACAAGTTCAATGTCTCTAACTTCTATCATGTG
AAGAATAACATGAAAATAATAGACCCAGATGAAGAGAAGGCCAAACAGGACCCGTCTTATTATCTGAAAAATACAAATGCCGAGACCCGAGAGACCCTGCAGGAG
CTCTACAAGGAGTTCAAAGGGGACGAGATTCTGGCAGCCACCATGAAGGCCCCGGAGAAGAAGAAAGTGGACAAGCTGAACGCTGCCCACTATTCCACAGGGAAG
GTCAGCGCTTCCTTCACCTCCACCGCGATGGTCCCGGAGACCACACATGAAGCAGCTGCCATCGACGAGGATGTGCTGCGCTACCAGTTTGTGAAGAAGAAGGGC
TACGTGCGGCTGCACACCAACAAGGGCGACCTCAACCTGGAGCTGCACTGCGACCTGACACCAAAAACCTGCGAAAACTTCATCAGGCTTTGCAAGAAGCATTAT
TACGATGGCACCATCTTCCACAGATCCATCCGGAACTTTGTGATCCAAGGGGGCGACCCCACAGGCACAGGCACGGGTGGGGAGTCATACTGGGGGAAGCCCTTC
AAAGACGAGTTCCGGCCCAACCTCTCGCACACGGGCCGCGGCATCCTCAGCATGGCCAACTCCGGGCCCAACAGCAACAGGTCTCAATTCTTCATCACGTTTCGC
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ATGGGGAAGCGACAGCACCAAAAGGACAAAATGTACATTACCTGTGCTGAATACACTCACTTTTATGGTGGCAAGAAGCCAGATCTCCCACAAACAAATTTTCGT
CGTTTACCTTTTGACCACTGCAGTCTCTCTCTGCAGCCCTTTGTCTACCCAGTCTGCACTCCCGATGGCATCGTCTTTGACTTACTGAACATTGTTCCATGGCTT
AAGAAGTACGGGACCAACCCCAGCAATGGAGAGAAGCTGGACGGGAGGTCCCTGATCAAGCTGAACTTTTCCAAGAACAGTGAGGGGAAGTACCACTGCCCAGTG
CTGTTTACCGTGTTCACCAACAACACCCACATCGTGGCTGTGAGGACGACCGGCAACGTCTACGCCTATGAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAAC
TTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGACCCCACCAATTTGGACAAGTTCAATGTCTCTAACTTCTATCATGTG
AAGAATAACATGAAAATAATAGACCCAGATGAAGAGAAGGCCAAACAGGACCCGTCTTATTATCTGAAAAATACAAATGCCGAGACCCGAGAGACCCTGCAGGAG
CTCTACAAGGAGTTCAAAGGGGACGAGATTCTGGCAGCCACCATGAAGGCCCCGGAGAAGAAGAAAGTGGACAAGCTGAACGCTGCCCACTATTCCACAGGGAAG
GTCAGCGCTTCCTTCACCTCCACCGCGATGGTCCCGGAGACCACACATGAAGCAGCTGCCATCGACGAGGATGTGCTGCGCTACCAGTTTGTGAAGAAGAAGGGC
TACGTGCGGCTGCACACCAACAAGGGCGACCTCAACCTGGAGCTGCACTGCGACCTGACACCAAAAACCTGCGAAAACTTCATCAGGCTTTGCAAGAAGCATTAT
TACGATGGCACCATCTTCCACAGATCCATCCGGAACTTTGTGATCCAAGGGGGCGACCCCACAGGCACAGGCACGGGTGGGGAGTCATACTGGGGGAAGCCCTTC
AAAGACGAGTTCCGGCCCAACCTCTCGCACACGGGCCGCGGCATCCTCAGCATGGCCAACTCCGGGCCCAACAGCAACAGGTCTCAATTCTTCATCACGTTTCGC
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>PPIL2|23759|protein
MGKRQHQKDKMYITCAEYTHFYGGKKPDLPQTNFRRLPFDHCSLSLQPFVYPVCTPDGIVFDLLNIVPWLKKYGTNPSNGEKLDGRSLIKLNFSKNSEGKYHCPV
LFTVFTNNTHIVAVRTTGNVYAYEAVEQLNIKAKNFRDLLTDEPFSRQDIITLQDPTNLDKFNVSNFYHVKNNMKIIDPDEEKAKQDPSYYLKNTNAETRETLQE
LYKEFKGDEILAATMKAPEKKKVDKLNAAHYSTGKVSASFTSTAMVPETTHEAAAIDEDVLRYQFVKKKGYVRLHTNKGDLNLELHCDLTPKTCENFIRLCKKHY
YDGTIFHRSIRNFVIQGGDPTGTGTGGESYWGKPFKDEFRPNLSHTGRGILSMANSGPNSNRSQFFITFRSCAYLDKKHTIFGRVVGGFDVLTAMENVESDPKTD
RPKEEIRIDATTVFVDPYEEADAQIAQERKTQLKVAPETKVKSSQPQAGSQGPQTFRQGVGKYINPAATKRAAEEEPSTSATVPMSKKKPSRGFGDFSSW
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MGKRQHQKDKMYITCAEYTHFYGGKKPDLPQTNFRRLPFDHCSLSLQPFVYPVCTPDGIVFDLLNIVPWLKKYGTNPSNGEKLDGRSLIKLNFSKNSEGKYHCPV
LFTVFTNNTHIVAVRTTGNVYAYEAVEQLNIKAKNFRDLLTDEPFSRQDIITLQDPTNLDKFNVSNFYHVKNNMKIIDPDEEKAKQDPSYYLKNTNAETRETLQE
LYKEFKGDEILAATMKAPEKKKVDKLNAAHYSTGKVSASFTSTAMVPETTHEAAAIDEDVLRYQFVKKKGYVRLHTNKGDLNLELHCDLTPKTCENFIRLCKKHY
YDGTIFHRSIRNFVIQGGDPTGTGTGGESYWGKPFKDEFRPNLSHTGRGILSMANSGPNSNRSQFFITFRSCAYLDKKHTIFGRVVGGFDVLTAMENVESDPKTD
RPKEEIRIDATTVFVDPYEEADAQIAQERKTQLKVAPETKVKSSQPQAGSQGPQTFRQGVGKYINPAATKRAAEEEPSTSATVPMSKKKPSRGFGDFSSW
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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 (6) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 4 (8) |
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 | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
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 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 | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
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.