Evidence Details for PER2
Basic Information Top
| Gene Symbol: | PER2 ( FASPS,KIAA0347 ) |
|---|---|
| Gene Full Name: | period homolog 2 (Drosophila) |
| Band: | 2q37.3 |
| Quick Links | Entrez ID:8864; OMIM: 603426; Uniprot ID:PER2_HUMAN; ENSEMBL ID: ENSG00000132326; HGNC ID: 8846 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PER2|8864|nucleotide
ATGAATGGATACGCGGAATTTCCGCCCAGCCCCAGTAACCCCACCAAGGAGCCCGTGGAGCCCCAGCCCAGCCAGGTCCCACTGCAGGAAGATGTGGACATGAGC
AGTGGCTCCAGTGGACATGAGACCAACGAAAACTGCTCCACGGGGCGGGACTCGCAGGGCAGTGACTGTGACGACAGTGGGAAGGAGCTGGGGATGCTGGTGGAG
CCACCGGATGCCCGCCAGAGTCCAGATACCTTTAGCCTGATGATGGCAAAATCTGAACACAACCCATCTACAAGTGGCTGCAGTAGCGACCAGTCTTCGAAAGTG
GACACACACAAAGAACTGATAAAAACACTAAAGGAGCTGAAGGTCCACCTCCCTGCAGACAAGAAGGCCAAGGGCAAGGCCAGTACGCTGGCCACCTTGAAGTAC
GCCCTCAGGAGCGTGAAGCAGGTGAAAGCCAATGAAGAGTATTACCAGCTGCTGATGTCCAGCGAGGGTCACCCCTGTGGAGCAGACGTGCCCTCCTACACCGTG
GAGGAGATGGAGAGCGTTACCTCTGAGCACATTGTGAAGAATGCCGATATGTTTGCGGTGGCCGTGTCCCTGGTGTCTGGGAAGATCCTGTACATCTCTGACCAG
GTTGCATCCATATTTCACTGTAAAAGAGATGCCTTCAGCGATGCCAAGTTTGTGGAGTTCCTGGCGCCTCACGATGTGGGCGTGTTCCACAGTTTCACCTCCCCG
TACAAGCTTCCCTTGTGGAGCATGTGCAGTGGAGCAGATTCTTTTACTCAAGAATGCATGGAGGAGAAATCTTTCTTTTGCCGTGTCAGTGTCCGGAAAAGCCAC
GAGAATGAAATCCGCTACCACCCCTTCCGCATGACGCCCTACCTGGTCAAGGTGCGGGACCAACAAGGTGCTGAGAGTCAGCTTTGCTGCCTTCTGCTGGCAGAG
AGAGTGCACTCTGGTTATGAAGCCCCTAGAATTCCTCCTGAAAAGAGAATTTTTACAACCACCCATACACCAAATTGTTTGTTCCAGGATGTGGATGAAAGGGCG
GTCCCTCTCCTGGGCTACCTACCTCAGGACCTGATTGAAACCCCAGTGCTCGTGCAGCTCCACCCTAGTGACAGGCCCTTGATGCTGGCCATCCACAAAAAGATC
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ATGAATGGATACGCGGAATTTCCGCCCAGCCCCAGTAACCCCACCAAGGAGCCCGTGGAGCCCCAGCCCAGCCAGGTCCCACTGCAGGAAGATGTGGACATGAGC
AGTGGCTCCAGTGGACATGAGACCAACGAAAACTGCTCCACGGGGCGGGACTCGCAGGGCAGTGACTGTGACGACAGTGGGAAGGAGCTGGGGATGCTGGTGGAG
CCACCGGATGCCCGCCAGAGTCCAGATACCTTTAGCCTGATGATGGCAAAATCTGAACACAACCCATCTACAAGTGGCTGCAGTAGCGACCAGTCTTCGAAAGTG
GACACACACAAAGAACTGATAAAAACACTAAAGGAGCTGAAGGTCCACCTCCCTGCAGACAAGAAGGCCAAGGGCAAGGCCAGTACGCTGGCCACCTTGAAGTAC
GCCCTCAGGAGCGTGAAGCAGGTGAAAGCCAATGAAGAGTATTACCAGCTGCTGATGTCCAGCGAGGGTCACCCCTGTGGAGCAGACGTGCCCTCCTACACCGTG
GAGGAGATGGAGAGCGTTACCTCTGAGCACATTGTGAAGAATGCCGATATGTTTGCGGTGGCCGTGTCCCTGGTGTCTGGGAAGATCCTGTACATCTCTGACCAG
GTTGCATCCATATTTCACTGTAAAAGAGATGCCTTCAGCGATGCCAAGTTTGTGGAGTTCCTGGCGCCTCACGATGTGGGCGTGTTCCACAGTTTCACCTCCCCG
TACAAGCTTCCCTTGTGGAGCATGTGCAGTGGAGCAGATTCTTTTACTCAAGAATGCATGGAGGAGAAATCTTTCTTTTGCCGTGTCAGTGTCCGGAAAAGCCAC
GAGAATGAAATCCGCTACCACCCCTTCCGCATGACGCCCTACCTGGTCAAGGTGCGGGACCAACAAGGTGCTGAGAGTCAGCTTTGCTGCCTTCTGCTGGCAGAG
AGAGTGCACTCTGGTTATGAAGCCCCTAGAATTCCTCCTGAAAAGAGAATTTTTACAACCACCCATACACCAAATTGTTTGTTCCAGGATGTGGATGAAAGGGCG
GTCCCTCTCCTGGGCTACCTACCTCAGGACCTGATTGAAACCCCAGTGCTCGTGCAGCTCCACCCTAGTGACAGGCCCTTGATGCTGGCCATCCACAAAAAGATC
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>PER2|8864|protein
MNGYAEFPPSPSNPTKEPVEPQPSQVPLQEDVDMSSGSSGHETNENCSTGRDSQGSDCDDSGKELGMLVEPPDARQSPDTFSLMMAKSEHNPSTSGCSSDQSSKV
DTHKELIKTLKELKVHLPADKKAKGKASTLATLKYALRSVKQVKANEEYYQLLMSSEGHPCGADVPSYTVEEMESVTSEHIVKNADMFAVAVSLVSGKILYISDQ
VASIFHCKRDAFSDAKFVEFLAPHDVGVFHSFTSPYKLPLWSMCSGADSFTQECMEEKSFFCRVSVRKSHENEIRYHPFRMTPYLVKVRDQQGAESQLCCLLLAE
RVHSGYEAPRIPPEKRIFTTTHTPNCLFQDVDERAVPLLGYLPQDLIETPVLVQLHPSDRPLMLAIHKKILQSGGQPFDYSPIRFRARNGEYITLDTSWSSFINP
WSRKISFIIGRHKVRVGPLNEDVFAAHPCTEEKALHPSIQELTEQIHRLLLQPVPHSGSSGYGSLGSNGSHEHLMSQTSSSDSNGHEDSRRRRAEICKNGNKTKN
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MNGYAEFPPSPSNPTKEPVEPQPSQVPLQEDVDMSSGSSGHETNENCSTGRDSQGSDCDDSGKELGMLVEPPDARQSPDTFSLMMAKSEHNPSTSGCSSDQSSKV
DTHKELIKTLKELKVHLPADKKAKGKASTLATLKYALRSVKQVKANEEYYQLLMSSEGHPCGADVPSYTVEEMESVTSEHIVKNADMFAVAVSLVSGKILYISDQ
VASIFHCKRDAFSDAKFVEFLAPHDVGVFHSFTSPYKLPLWSMCSGADSFTQECMEEKSFFCRVSVRKSHENEIRYHPFRMTPYLVKVRDQQGAESQLCCLLLAE
RVHSGYEAPRIPPEKRIFTTTHTPNCLFQDVDERAVPLLGYLPQDLIETPVLVQLHPSDRPLMLAIHKKILQSGGQPFDYSPIRFRARNGEYITLDTSWSSFINP
WSRKISFIIGRHKVRVGPLNEDVFAAHPCTEEKALHPSIQELTEQIHRLLLQPVPHSGSSGYGSLGSNGSHEHLMSQTSSSDSNGHEDSRRRRAEICKNGNKTKN
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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 (2) | 0 (0) | 0 (1) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (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 | ||||||
| Sebat, 2007 | USA | aCGH |  |  | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Nicolas, 2007_1 | AGRE | ABI PRISM BigDye Terminator Cycle Sequencing Ready Reaction Kit, version 3.1 on an ABI PRISM 3100 Genetic Analyzer | 110 | 110 (28.18%) | | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS 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. |
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS 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.