Evidence Details for PRR16
Basic Information Top
| Gene Symbol: | PRR16 ( DSC54,MGC104614 ) |
|---|---|
| Gene Full Name: | proline rich 16 |
| Band: | 5q23.1 |
| Quick Links | Entrez ID:51334; OMIM: NA; Uniprot ID:PRR16_HUMAN; ENSEMBL ID: ENSG00000184838; HGNC ID: 29654 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PRR16|51334|nucleotide
ATGGCACAATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTGCCTCAGTGCGCCACTACGCCTGGGTGGTTGACCAGATT
GACACCCTGACCTCTGACCTACAGCTGGAGGATGAGATGACTGACAGCTCCAAAACGGACACGCTGAATAGTAGCTCAAGTGGCACAACAGCCTCCAGCCTAGAG
AAGATCAAAGTGCAGGCTAATGCACCGCTTATTAAACCCCCAGCACACCCATCTGCTATCCTCACGGTCCTGAGAAAGCCAAACCCTCCACCACCTCCTCCAAGG
TTGACACCTGTGAAGTGTGAAGACCCCAAAAGGGTGGTTCCAACTGCCAATCCTGTAAAAACCAATGGCACCCTTCTACGAAATGGAGGCTTACCAGGTGGACCT
AACAAAATTCCAAATGGAGATATCTGCTGCATACCCAACAGTAACTTGGACAAGGCTCCAGTCCAGCTTCTGATGCATAGACCTGAAAAAGACAGATGTCCCCAG
GCAGGGCCTCGAGAACGAGTTCGGTTTAATGAAAAAGTACAGTACCATGGCTATTGTCCTGACTGTGATACCCGGTATAACATAAAAAACAGGGAGGTCCACTTA
CACAGTGAACCTGTCCACCCACCGGGAAAGATTCCTCACCAAGGCCCTCCCCTCCCTCCTACACCCCATCTCCCTCCTTTCCCACTAGAAAATGGGGGAATGGGA
ATAAGCCACAGTAACAGCTTCCCCCCTATCAGACCTGCAACTGTGCCTCCTCCCACTGCACCAAAACCACAGAAGACGATCTTGAGGAAGTCAACCACTACAACC
GTGTGA
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ATGGCACAATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTGCCTCAGTGCGCCACTACGCCTGGGTGGTTGACCAGATT
GACACCCTGACCTCTGACCTACAGCTGGAGGATGAGATGACTGACAGCTCCAAAACGGACACGCTGAATAGTAGCTCAAGTGGCACAACAGCCTCCAGCCTAGAG
AAGATCAAAGTGCAGGCTAATGCACCGCTTATTAAACCCCCAGCACACCCATCTGCTATCCTCACGGTCCTGAGAAAGCCAAACCCTCCACCACCTCCTCCAAGG
TTGACACCTGTGAAGTGTGAAGACCCCAAAAGGGTGGTTCCAACTGCCAATCCTGTAAAAACCAATGGCACCCTTCTACGAAATGGAGGCTTACCAGGTGGACCT
AACAAAATTCCAAATGGAGATATCTGCTGCATACCCAACAGTAACTTGGACAAGGCTCCAGTCCAGCTTCTGATGCATAGACCTGAAAAAGACAGATGTCCCCAG
GCAGGGCCTCGAGAACGAGTTCGGTTTAATGAAAAAGTACAGTACCATGGCTATTGTCCTGACTGTGATACCCGGTATAACATAAAAAACAGGGAGGTCCACTTA
CACAGTGAACCTGTCCACCCACCGGGAAAGATTCCTCACCAAGGCCCTCCCCTCCCTCCTACACCCCATCTCCCTCCTTTCCCACTAGAAAATGGGGGAATGGGA
ATAAGCCACAGTAACAGCTTCCCCCCTATCAGACCTGCAACTGTGCCTCCTCCCACTGCACCAAAACCACAGAAGACGATCTTGAGGAAGTCAACCACTACAACC
GTGTGA
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>PRR16|51334|protein
MAQSGLTATSASQVQAILLPQPASVRHYAWVVDQIDTLTSDLQLEDEMTDSSKTDTLNSSSSGTTASSLEKIKVQANAPLIKPPAHPSAILTVLRKPNPPPPPPR
LTPVKCEDPKRVVPTANPVKTNGTLLRNGGLPGGPNKIPNGDICCIPNSNLDKAPVQLLMHRPEKDRCPQAGPRERVRFNEKVQYHGYCPDCDTRYNIKNREVHL
HSEPVHPPGKIPHQGPPLPPTPHLPPFPLENGGMGISHSNSFPPIRPATVPPPTAPKPQKTILRKSTTTTV
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MAQSGLTATSASQVQAILLPQPASVRHYAWVVDQIDTLTSDLQLEDEMTDSSKTDTLNSSSSGTTASSLEKIKVQANAPLIKPPAHPSAILTVLRKPNPPPPPPR
LTPVKCEDPKRVVPTANPVKTNGTLLRNGGLPGGPNKIPNGDICCIPNSNLDKAPVQLLMHRPEKDRCPQAGPRERVRFNEKVQYHGYCPDCDTRYNIKNREVHL
HSEPVHPPGKIPHQGPPLPPTPHLPPFPLENGGMGISHSNSFPPIRPATVPPPTAPKPQKTILRKSTTTTV
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top