CD34
CD34 molecule, the group of CD molecules
Basic information
Region (hg38): 1:207880972-207911402
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (47 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD34 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001025109.2. 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 | 42 | 47 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 42 | 5 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CD34 | protein_coding | protein_coding | ENST00000310833 | 8 | 27154 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000499 | 0.870 | 125717 | 0 | 31 | 125748 | 0.000123 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.773 | 175 | 206 | 0.849 | 0.0000103 | 2433 |
| Missense in Polyphen | 92 | 85.334 | 1.0781 | 962 | ||
| Synonymous | 0.454 | 82 | 87.4 | 0.938 | 0.00000479 | 819 |
| Loss of Function | 1.49 | 11 | 17.8 | 0.619 | 9.30e-7 | 209 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000449 | 0.000448 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000151 | 0.000149 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins.;
- Pathway
- Cell adhesion molecules (CAMs) - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;C-MYB transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.879
Intolerance Scores
- loftool
- 0.894
- rvis_EVS
- 0.22
- rvis_percentile_EVS
- 68.27
Haploinsufficiency Scores
- pHI
- 0.0422
- hipred
- N
- hipred_score
- 0.179
- ghis
- 0.464
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.105
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cd34
- Phenotype
- immune system phenotype; hematopoietic system phenotype; neoplasm; homeostasis/metabolism phenotype; cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Gene ontology
- Biological process
- tissue homeostasis;endothelial cell proliferation;glomerular filtration;endothelium development;signal transduction;regulation of blood pressure;cell population proliferation;positive regulation of gene expression;negative regulation of gene expression;hemopoiesis;negative regulation of blood coagulation;negative regulation of tumor necrosis factor production;positive regulation of interleukin-10 production;mesangial cell-matrix adhesion;paracrine signaling;positive regulation of odontogenesis;negative regulation of nitric oxide biosynthetic process;positive regulation of angiogenesis;cell motility;regulation of immune response;leukocyte migration;transdifferentiation;vascular wound healing;hematopoietic stem cell proliferation;positive regulation of transforming growth factor beta production;positive regulation of granulocyte colony-stimulating factor production;extracellular exosome assembly;glomerular endothelium development;stem cell proliferation;metanephric glomerular mesangial cell differentiation;cell-cell adhesion;negative regulation of cellular response to heat;negative regulation of cellular response to hypoxia;negative regulation of interleukin-2 secretion;positive regulation of glial cell-derived neurotrophic factor secretion;negative regulation of neuron death;positive regulation of vasculogenesis
- Cellular component
- cytoplasm;lysosome;plasma membrane;integral component of plasma membrane;external side of plasma membrane;basal plasma membrane;apical plasma membrane;glomerular endothelium fenestra;intercellular bridge;perinuclear region of cytoplasm
- Molecular function
- transcription factor binding;carbohydrate binding;sulfate binding