Evidence Details for CD200R1


Gene Symbol: | CD200R1 ( CD200R,HCRTR2,MOX2R,OX2R ) |
---|---|
Gene Full Name: | CD200 receptor 1 |
Band: | 3q13.2 |
Quick Links | Entrez ID:131450; OMIM: 607546; Uniprot ID:MO2R1_HUMAN; ENSEMBL ID: ENSG00000163606; HGNC ID: 24235 |
Relate to Another Database: | SFARIGene; denovo-db |


>CD200R1|131450|nucleotide
ATGCTCTGCCCTTGGAGAACTGCTAACCTAGGGCTACTGTTGATTTTGACTATCTTCTTAGTGGCCGAAGCGGAGGGTGCTGCTCAACCAAACAACTCATTAATG
CTGCAAACTAGCAAGGAGAATCATGCTTTAGCTTCAAGCAGTTTATGTATGGATGAAAAACAGATTACACAGAACTACTCGAAAGTACTCGCAGAAGTTAACACT
TCATGGCCTGTAAAGATGGCTACAAATGCTGTGCTTTGTTGCCCTCCTATCGCATTAAGAAATTTGATCATAATAACATGGGAAATAATCCTGAGAGGCCAGCCT
TCCTGCACAAAAGCCTACAAGAAAGAAACAAATGAGACCAAGGAAACCAACTGTACTGATGAGAGAATAACCTGGGTCTCCAGACCTGATCAGAATTCGGACCTT
CAGATTCGTACCGTGGCCATCACTCATGACGGGTATTACAGATGCATAATGGTAACACCTGATGGGAATTTCCATCGTGGATATCACCTCCAAGTGTTAGTTACA
CCTGAAGTGACCCTGTTTCAAAACAGGAATAGAACTGCAGTATGCAAGGCAGTTGCAGGGAAGCCAGCTGCGCATATCTCCTGGATCCCAGAGGGCGATTGTGCC
ACTAAGCAAGAATACTGGAGCAATGGCACAGTGACTGTTAAGAGTACATGCCACTGGGAGGTCCACAATGTGTCTACCGTGACCTGCCACGTCTCCCATTTGACT
GGCAACAAGAGTCTGTACATAGAGCTACTTCCTGTTCCAGGTGCCAAAAAATCAGCAAAATTATATATTCCATATATCATCCTTACTATTATTATTTTGACCATC
GTGGGATTCATTTGGTTGTTGAAAGTCAATGGCTGCAGAAAATATAAATTGAATAAAACAGAATCTACTCCAGTTGTTGAGGAGGATGAAATGCAGCCCTATGCC
AGCTACACAGAGAAGAACAATCCTCTCTATGATACTACAAACAAGGTGAAGGCATCTGAGGCATTACAAAGTGAAGTTGACACAGACCTCCATACTTTATAA
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ATGCTCTGCCCTTGGAGAACTGCTAACCTAGGGCTACTGTTGATTTTGACTATCTTCTTAGTGGCCGAAGCGGAGGGTGCTGCTCAACCAAACAACTCATTAATG
CTGCAAACTAGCAAGGAGAATCATGCTTTAGCTTCAAGCAGTTTATGTATGGATGAAAAACAGATTACACAGAACTACTCGAAAGTACTCGCAGAAGTTAACACT
TCATGGCCTGTAAAGATGGCTACAAATGCTGTGCTTTGTTGCCCTCCTATCGCATTAAGAAATTTGATCATAATAACATGGGAAATAATCCTGAGAGGCCAGCCT
TCCTGCACAAAAGCCTACAAGAAAGAAACAAATGAGACCAAGGAAACCAACTGTACTGATGAGAGAATAACCTGGGTCTCCAGACCTGATCAGAATTCGGACCTT
CAGATTCGTACCGTGGCCATCACTCATGACGGGTATTACAGATGCATAATGGTAACACCTGATGGGAATTTCCATCGTGGATATCACCTCCAAGTGTTAGTTACA
CCTGAAGTGACCCTGTTTCAAAACAGGAATAGAACTGCAGTATGCAAGGCAGTTGCAGGGAAGCCAGCTGCGCATATCTCCTGGATCCCAGAGGGCGATTGTGCC
ACTAAGCAAGAATACTGGAGCAATGGCACAGTGACTGTTAAGAGTACATGCCACTGGGAGGTCCACAATGTGTCTACCGTGACCTGCCACGTCTCCCATTTGACT
GGCAACAAGAGTCTGTACATAGAGCTACTTCCTGTTCCAGGTGCCAAAAAATCAGCAAAATTATATATTCCATATATCATCCTTACTATTATTATTTTGACCATC
GTGGGATTCATTTGGTTGTTGAAAGTCAATGGCTGCAGAAAATATAAATTGAATAAAACAGAATCTACTCCAGTTGTTGAGGAGGATGAAATGCAGCCCTATGCC
AGCTACACAGAGAAGAACAATCCTCTCTATGATACTACAAACAAGGTGAAGGCATCTGAGGCATTACAAAGTGAAGTTGACACAGACCTCCATACTTTATAA
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>CD200R1|131450|protein
MLCPWRTANLGLLLILTIFLVAEAEGAAQPNNSLMLQTSKENHALASSSLCMDEKQITQNYSKVLAEVNTSWPVKMATNAVLCCPPIALRNLIIITWEIILRGQP
SCTKAYKKETNETKETNCTDERITWVSRPDQNSDLQIRTVAITHDGYYRCIMVTPDGNFHRGYHLQVLVTPEVTLFQNRNRTAVCKAVAGKPAAHISWIPEGDCA
TKQEYWSNGTVTVKSTCHWEVHNVSTVTCHVSHLTGNKSLYIELLPVPGAKKSAKLYIPYIILTIIILTIVGFIWLLKVNGCRKYKLNKTESTPVVEEDEMQPYA
SYTEKNNPLYDTTNKVKASEALQSEVDTDLHTL
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MLCPWRTANLGLLLILTIFLVAEAEGAAQPNNSLMLQTSKENHALASSSLCMDEKQITQNYSKVLAEVNTSWPVKMATNAVLCCPPIALRNLIIITWEIILRGQP
SCTKAYKKETNETKETNCTDERITWVSRPDQNSDLQIRTVAITHDGYYRCIMVTPDGNFHRGYHLQVLVTPEVTLFQNRNRTAVCKAVAGKPAAHISWIPEGDCA
TKQEYWSNGTVTVKSTCHWEVHNVSTVTCHVSHLTGNKSLYIELLPVPGAKKSAKLYIPYIILTIIILTIVGFIWLLKVNGCRKYKLNKTESTPVVEEDEMQPYA
SYTEKNNPLYDTTNKVKASEALQSEVDTDLHTL
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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 (2) | 0 (0) | 0 (0) | 4 (6) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Gregory, 2009 | USA | aCGH | ![]() | ![]() | ASD | - | - | - | - | 119 | 54 | 173 |
Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |
Fan Y, 2016 | China | CMA | - | - | autism | - | - | - | - | 3 | - | 3 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2008 | - | SNP-based genomic screen | ![]() | ![]() | ASD | 1 | - | 1 | - | 7 | 22 | 29 |








Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |




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