CD200
Basic information
Region (hg38): 3:112332235-112363181
Previous symbols: [ "MOX1", "MOX2" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (25 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD200 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005944.7. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 21 | 23 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 21 | 2 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CD200 | protein_coding | protein_coding | ENST00000473539 | 7 | 30466 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.414 | 0.585 | 125735 | 0 | 10 | 125745 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.656 | 138 | 161 | 0.855 | 0.00000837 | 1903 |
| Missense in Polyphen | 32 | 46.733 | 0.68474 | 599 | ||
| Synonymous | -0.0777 | 65 | 64.2 | 1.01 | 0.00000327 | 600 |
| Loss of Function | 2.70 | 3 | 13.9 | 0.217 | 5.88e-7 | 160 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000547 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.0000547 | 0.0000544 |
| South Asian | 0.000294 | 0.000294 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues.;
- Pathway
- Vitamin D Receptor Pathway;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System
(Consensus)
Recessive Scores
- pRec
- 0.167
Intolerance Scores
- loftool
- 0.490
- rvis_EVS
- 0.48
- rvis_percentile_EVS
- 79.25
Haploinsufficiency Scores
- pHI
- 0.312
- hipred
- N
- hipred_score
- 0.212
- ghis
- 0.429
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.737
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cd200
- Phenotype
- hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- negative regulation of leukocyte activation;negative regulation of cell population proliferation;negative regulation of NF-kappaB transcription factor activity;positive regulation of CREB transcription factor activity;heterotypic cell-cell adhesion;negative regulation of macrophage activation;regulation of immune response;positive regulation of transforming growth factor beta production;cell-cell adhesion;positive regulation of arginase activity;positive regulation of protein-glutamine gamma-glutamyltransferase activity;regulation of neuroinflammatory response;negative regulation of neuroinflammatory response;negative regulation of interleukin-6 secretion;negative regulation of neuron death;negative regulation of matrix metallopeptidase secretion;negative regulation of macrophage migration;negative regulation of T cell migration
- Cellular component
- plasma membrane;integral component of plasma membrane;cell surface;membrane;axon;neuron projection;neuronal cell body;cell body
- Molecular function
- protein binding;protein binding involved in heterotypic cell-cell adhesion;glycosylated region protein binding