Evidence Details for PDGFRL
Basic Information Top
| Gene Symbol: | PDGFRL ( PDGRL,PRLTS ) |
|---|---|
| Gene Full Name: | platelet-derived growth factor receptor-like |
| Band: | 8p22 |
| Quick Links | Entrez ID:5157; OMIM: 604584; Uniprot ID:PGFRL_HUMAN; ENSEMBL ID: ENSG00000104213; HGNC ID: 8805 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PDGFRL|5157|nucleotide
ATGAAGGTCTGGCTGCTGCTTGGTCTTCTGCTGGTGCACGAAGCGCTGGAGGATGTTACTGGCCAACACCTTCCCAAGAACAAGCGTCCAAAAGAACCAGGAGAG
AATAGAATCAAACCTACCAACAAGAAGGTGAAGCCCAAAATTCCTAAAATGAAGGACAGGGACTCAGCCAATTCAGCACCAAAGACGCAGTCTATCATGATGCAA
GTGCTGGATAAAGGTCGCTTCCAGAAACCCGCCGCTACCCTGAGTCTGCTGGCGGGGCAAACTGTAGAGCTTCGATGTAAAGGGAGTAGAATTGGGTGGAGCTAC
CCTGCGTATCTGGACACCTTTAAGGATTCTCGCCTCAGCGTCAAGCAGAATGAGCGCTACGGCCAGTTGACTCTGGTCAACTCCACCTCGGCAGACACAGGTGAA
TTCAGCTGCTGGGTGCAGCTCTGCAGCGGCTACATCTGCAGGAAGGACGAGGCCAAAACGGGCTCCACCTACATCTTTTTTACAGAGAAAGGAGAACTCTTTGTA
CCTTCTCCCAGCTACTTCGATGTTGTCTACTTGAACCCGGACAGACAGGCTGTGGTTCCTTGTCGGGTGACCGTGCTGTCGGCCAAAGTCACGCTCCACAGGGAA
TTCCCAGCCAAGGAGATCCCAGCCAATGGAACGGACATTGTTTATGACATGAAGCGGGGCTTTGTGTATCTGCAACCTCATTCCGAGCACCAGGGTGTGGTTTAC
TGCAGGGCGGAGGCCGGGGGCAGATCTCAGATCTCCGTCAAGTACCAGCTGCTCTACGTGGCGGTTCCCAGTGGCCCTCCCTCAACAACCATCTTGGCTTCTTCA
AACAAAGTGAAAAGTGGGGACGACATCAGTGTGCTCTGCACTGTCCTGGGGGAGCCCGATGTGGAGGTGGAGTTCACCTGGATCTTCCCAGGGCAGAAGGATGAA
AGGCCTGTGACGATCCAAGACACTTGGAGGTTGATCCACAGAGGACTGGGACACACCACGAGAATCTCCCAGAGTGTCATTACAGTGGAAGACTTTGAGACGATT
GATGCAGGATATTACATTTGCACTGCTCAGAATCTTCAAGGACAGACCACAGTAGCTACCACTGTTGAGTTTTCCTGA
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ATGAAGGTCTGGCTGCTGCTTGGTCTTCTGCTGGTGCACGAAGCGCTGGAGGATGTTACTGGCCAACACCTTCCCAAGAACAAGCGTCCAAAAGAACCAGGAGAG
AATAGAATCAAACCTACCAACAAGAAGGTGAAGCCCAAAATTCCTAAAATGAAGGACAGGGACTCAGCCAATTCAGCACCAAAGACGCAGTCTATCATGATGCAA
GTGCTGGATAAAGGTCGCTTCCAGAAACCCGCCGCTACCCTGAGTCTGCTGGCGGGGCAAACTGTAGAGCTTCGATGTAAAGGGAGTAGAATTGGGTGGAGCTAC
CCTGCGTATCTGGACACCTTTAAGGATTCTCGCCTCAGCGTCAAGCAGAATGAGCGCTACGGCCAGTTGACTCTGGTCAACTCCACCTCGGCAGACACAGGTGAA
TTCAGCTGCTGGGTGCAGCTCTGCAGCGGCTACATCTGCAGGAAGGACGAGGCCAAAACGGGCTCCACCTACATCTTTTTTACAGAGAAAGGAGAACTCTTTGTA
CCTTCTCCCAGCTACTTCGATGTTGTCTACTTGAACCCGGACAGACAGGCTGTGGTTCCTTGTCGGGTGACCGTGCTGTCGGCCAAAGTCACGCTCCACAGGGAA
TTCCCAGCCAAGGAGATCCCAGCCAATGGAACGGACATTGTTTATGACATGAAGCGGGGCTTTGTGTATCTGCAACCTCATTCCGAGCACCAGGGTGTGGTTTAC
TGCAGGGCGGAGGCCGGGGGCAGATCTCAGATCTCCGTCAAGTACCAGCTGCTCTACGTGGCGGTTCCCAGTGGCCCTCCCTCAACAACCATCTTGGCTTCTTCA
AACAAAGTGAAAAGTGGGGACGACATCAGTGTGCTCTGCACTGTCCTGGGGGAGCCCGATGTGGAGGTGGAGTTCACCTGGATCTTCCCAGGGCAGAAGGATGAA
AGGCCTGTGACGATCCAAGACACTTGGAGGTTGATCCACAGAGGACTGGGACACACCACGAGAATCTCCCAGAGTGTCATTACAGTGGAAGACTTTGAGACGATT
GATGCAGGATATTACATTTGCACTGCTCAGAATCTTCAAGGACAGACCACAGTAGCTACCACTGTTGAGTTTTCCTGA
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>PDGFRL|5157|protein
MKVWLLLGLLLVHEALEDVTGQHLPKNKRPKEPGENRIKPTNKKVKPKIPKMKDRDSANSAPKTQSIMMQVLDKGRFQKPAATLSLLAGQTVELRCKGSRIGWSY
PAYLDTFKDSRLSVKQNERYGQLTLVNSTSADTGEFSCWVQLCSGYICRKDEAKTGSTYIFFTEKGELFVPSPSYFDVVYLNPDRQAVVPCRVTVLSAKVTLHRE
FPAKEIPANGTDIVYDMKRGFVYLQPHSEHQGVVYCRAEAGGRSQISVKYQLLYVAVPSGPPSTTILASSNKVKSGDDISVLCTVLGEPDVEVEFTWIFPGQKDE
RPVTIQDTWRLIHRGLGHTTRISQSVITVEDFETIDAGYYICTAQNLQGQTTVATTVEFS
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MKVWLLLGLLLVHEALEDVTGQHLPKNKRPKEPGENRIKPTNKKVKPKIPKMKDRDSANSAPKTQSIMMQVLDKGRFQKPAATLSLLAGQTVELRCKGSRIGWSY
PAYLDTFKDSRLSVKQNERYGQLTLVNSTSADTGEFSCWVQLCSGYICRKDEAKTGSTYIFFTEKGELFVPSPSYFDVVYLNPDRQAVVPCRVTVLSAKVTLHRE
FPAKEIPANGTDIVYDMKRGFVYLQPHSEHQGVVYCRAEAGGRSQISVKYQLLYVAVPSGPPSTTILASSNKVKSGDDISVLCTVLGEPDVEVEFTWIFPGQKDE
RPVTIQDTWRLIHRGLGHTTRISQSVITVEDFETIDAGYYICTAQNLQGQTTVATTVEFS
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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