Evidence Details for PTPRD
Basic Information Top
| Gene Symbol: | PTPRD ( HPTP,HPTPD,HPTPDELTA,MGC119750,MGC119751,MGC119752,MGC119753,PTPD,RPTPDELTA ) |
|---|---|
| Gene Full Name: | protein tyrosine phosphatase, receptor type, D |
| Band: | 9p24.1-p23 |
| Quick Links | Entrez ID:5789; OMIM: 601598; Uniprot ID:PTPRD_HUMAN; ENSEMBL ID: ENSG00000153707; HGNC ID: 9668 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PTPRD|5789|nucleotide
ATGGTGCACGTAGCCAGGCTGCTGCTGCTGCTCCTCACTTTCTTCCTCCGCACGGATGCTGAGACACCTCCAAGGTTTACACGAACACCCGTTGATCAGACAGGG
GTCTCTGGCGGAGTTGCCTCTTTCATCTGCCAAGCTACGGGAGACCCAAGACCTAAAATTGTCTGGAACAAAAAAGGAAAGAAAGTCAGCAATCAGAGATTTGAG
GTAATAGAGTTTGACGATGGGTCTGGATCAGTTCTCAGAATACAACCCTTACGGACTCCGAGGGATGAGGCCATTTATGAATGTGTGGCCTCAAATAATGTGGGA
GAAATAAGTGTATCCACCAGACTCACAGTTTTGCGGGAAGATCAAATTCCCAGGGGCTTCCCTACCATTGACATGGGCCCACAGTTGAAGGTGGTTGAGCGTACT
CGCACGGCCACCATGCTTTGTGCAGCCAGTGGTAATCCGGATCCAGAAATCACTTGGTTTAAAGATTTCTTACCTGTGGACACAAGCAACAACAATGGTCGTATT
AAGCAGTTACGATCAGGTGGTACACCAATAAGAGGAGCCCTTCAGATTGAGCAGAGTGAAGAGTCTGACCAAGGAAAATATGAGTGTGTTGCCACCAACAGCGCG
GGCACTCGCTATTCCGCTCCTGCCAATTTATATGTCAGAGAGCTGCGAGAAGTTCGCCGTGTCCCACCAAGATTCTCTATCCCACCCACTAATCATGAAATCATG
CCAGGCGGAAGCGTTAATATCACCTGTGTGGCCGTGGGGTCACCAATGCCTTATGTAAAGTGGATGTTGGGGGCAGAAGATCTGACACCTGAAGATGATATGCCA
ATAGGAAGAAATGTGCTAGAACTGAATGATGTAAGACAGTCAGCAAATTACACCTGTGTTGCTATGTCAACACTGGGTGTCATTGAAGCAATAGCACAGATCACT
GTCAAAGCCTTACCCAAACCTCCAGGAACTCCTGTAGTGACCGAGAGCACAGCTACAAGCATCACACTGACGTGGGACTCTGGGAACCCTGAGCCTGTTTCTTAT
TACATAATTCAGCATAAACCTAAAAACTCTGAGGAACTTTACAAAGAAATTGATGGGGTGGCGACCACACGCTACAGTGTCGCTGGACTAAGTCCCTACTCGGAT
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ATGGTGCACGTAGCCAGGCTGCTGCTGCTGCTCCTCACTTTCTTCCTCCGCACGGATGCTGAGACACCTCCAAGGTTTACACGAACACCCGTTGATCAGACAGGG
GTCTCTGGCGGAGTTGCCTCTTTCATCTGCCAAGCTACGGGAGACCCAAGACCTAAAATTGTCTGGAACAAAAAAGGAAAGAAAGTCAGCAATCAGAGATTTGAG
GTAATAGAGTTTGACGATGGGTCTGGATCAGTTCTCAGAATACAACCCTTACGGACTCCGAGGGATGAGGCCATTTATGAATGTGTGGCCTCAAATAATGTGGGA
GAAATAAGTGTATCCACCAGACTCACAGTTTTGCGGGAAGATCAAATTCCCAGGGGCTTCCCTACCATTGACATGGGCCCACAGTTGAAGGTGGTTGAGCGTACT
CGCACGGCCACCATGCTTTGTGCAGCCAGTGGTAATCCGGATCCAGAAATCACTTGGTTTAAAGATTTCTTACCTGTGGACACAAGCAACAACAATGGTCGTATT
AAGCAGTTACGATCAGGTGGTACACCAATAAGAGGAGCCCTTCAGATTGAGCAGAGTGAAGAGTCTGACCAAGGAAAATATGAGTGTGTTGCCACCAACAGCGCG
GGCACTCGCTATTCCGCTCCTGCCAATTTATATGTCAGAGAGCTGCGAGAAGTTCGCCGTGTCCCACCAAGATTCTCTATCCCACCCACTAATCATGAAATCATG
CCAGGCGGAAGCGTTAATATCACCTGTGTGGCCGTGGGGTCACCAATGCCTTATGTAAAGTGGATGTTGGGGGCAGAAGATCTGACACCTGAAGATGATATGCCA
ATAGGAAGAAATGTGCTAGAACTGAATGATGTAAGACAGTCAGCAAATTACACCTGTGTTGCTATGTCAACACTGGGTGTCATTGAAGCAATAGCACAGATCACT
GTCAAAGCCTTACCCAAACCTCCAGGAACTCCTGTAGTGACCGAGAGCACAGCTACAAGCATCACACTGACGTGGGACTCTGGGAACCCTGAGCCTGTTTCTTAT
TACATAATTCAGCATAAACCTAAAAACTCTGAGGAACTTTACAAAGAAATTGATGGGGTGGCGACCACACGCTACAGTGTCGCTGGACTAAGTCCCTACTCGGAT
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>PTPRD|5789|protein
MVHVARLLLLLLTFFLRTDAETPPRFTRTPVDQTGVSGGVASFICQATGDPRPKIVWNKKGKKVSNQRFEVIEFDDGSGSVLRIQPLRTPRDEAIYECVASNNVG
EISVSTRLTVLREDQIPRGFPTIDMGPQLKVVERTRTATMLCAASGNPDPEITWFKDFLPVDTSNNNGRIKQLRSGGTPIRGALQIEQSEESDQGKYECVATNSA
GTRYSAPANLYVRELREVRRVPPRFSIPPTNHEIMPGGSVNITCVAVGSPMPYVKWMLGAEDLTPEDDMPIGRNVLELNDVRQSANYTCVAMSTLGVIEAIAQIT
VKALPKPPGTPVVTESTATSITLTWDSGNPEPVSYYIIQHKPKNSEELYKEIDGVATTRYSVAGLSPYSDYEFRVVAVNNIGRGPPSEPVLTQTSEQAPSSAPRD
VQARMLSSTTILVQWKEPEEPNGQIQGYRVYYTMDPTQHVNNWMKHNVADSQITTIGNLVPQKTYSVKVLAFTSIGDGPLSSDIQVITQTGVPGQPLNFKAEPES
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MVHVARLLLLLLTFFLRTDAETPPRFTRTPVDQTGVSGGVASFICQATGDPRPKIVWNKKGKKVSNQRFEVIEFDDGSGSVLRIQPLRTPRDEAIYECVASNNVG
EISVSTRLTVLREDQIPRGFPTIDMGPQLKVVERTRTATMLCAASGNPDPEITWFKDFLPVDTSNNNGRIKQLRSGGTPIRGALQIEQSEESDQGKYECVATNSA
GTRYSAPANLYVRELREVRRVPPRFSIPPTNHEIMPGGSVNITCVAVGSPMPYVKWMLGAEDLTPEDDMPIGRNVLELNDVRQSANYTCVAMSTLGVIEAIAQIT
VKALPKPPGTPVVTESTATSITLTWDSGNPEPVSYYIIQHKPKNSEELYKEIDGVATTRYSVAGLSPYSDYEFRVVAVNNIGRGPPSEPVLTQTSEQAPSSAPRD
VQARMLSSTTILVQWKEPEEPNGQIQGYRVYYTMDPTQHVNNWMKHNVADSQITTIGNLVPQKTYSVKVLAFTSIGDGPLSSDIQVITQTGVPGQPLNFKAEPES
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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 | 1 (4) | 1 (7) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 1 (1) | 0 (2) | 0 (0) | 7 (15) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Weiss, 2009_2 | Replication | Affymetrix 5.0/500K arrays, Taqman assays | 2073 | - (-) |  | | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | |  | ASD | - - |
- - | ||
| MIXED/OTHERS | |||||||||||
| Weiss, 2009_1 | Discovery | Affymetrix 5.0 and 500K arrays | 1038 | - (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Liu X, 2016_2 | replication | TaqMan | 1409 (-) | | | ASD | - - |
- | 184 (-) |
- - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Yuen RK, 2016 | - | WGS | | | ASD | 200 | - | - | - | 200 | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS 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 | - |
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
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.