FLT3LG
fms related receptor tyrosine kinase 3 ligand, the group of Receptor ligands
Basic information
Region (hg38): 19:49474207-49486231
Links
Phenotypes
GenCC
Source:
No genCC data.
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Immunodeficiency 125 | AR | Allergy/Immunology/Infectious | The condition can include recurrent infections, and awareness may allow preventive measures and early and aggressive treatment of infections | Allergy/Immunology/Infectious; Gastrointestinal | 38701783 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLT3LG gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 12 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 1 | |||||
| Total | 0 | 0 | 13 | 1 | 0 |
Variants in FLT3LG
This is a list of pathogenic ClinVar variants found in the FLT3LG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-49474644-C-T | not specified | Likely benign (Mar 14, 2023) | ||
| 19-49474672-A-G | Benign (Dec 31, 2019) | |||
| 19-49475722-C-T | not specified | Uncertain significance (Dec 19, 2023) | ||
| 19-49476466-G-A | not specified | Uncertain significance (Nov 22, 2022) | ||
| 19-49476478-G-A | not specified | Uncertain significance (May 04, 2022) | ||
| 19-49476506-G-A | not specified | Uncertain significance (May 08, 2024) | ||
| 19-49476522-C-G | not specified | Uncertain significance (Dec 17, 2023) | ||
| 19-49476523-G-A | not specified | Uncertain significance (Apr 25, 2022) | ||
| 19-49478908-GC-G | Immunodeficiency 125 | Pathogenic (Aug 27, 2024) | ||
| 19-49478910-C-G | not specified | Uncertain significance (Sep 17, 2021) | ||
| 19-49478915-C-T | not specified | Uncertain significance (Feb 17, 2025) | ||
| 19-49478985-C-T | not specified | Uncertain significance (Jan 29, 2024) | ||
| 19-49480357-G-T | not specified | Uncertain significance (Oct 12, 2021) | ||
| 19-49480369-C-G | not specified | Uncertain significance (Nov 08, 2024) | ||
| 19-49480427-G-A | not specified | Uncertain significance (Jun 05, 2023) | ||
| 19-49480445-C-T | not specified | Uncertain significance (Jan 08, 2025) | ||
| 19-49480448-G-A | not specified | Uncertain significance (May 10, 2022) | ||
| 19-49480466-C-G | not specified | Uncertain significance (Aug 19, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FLT3LG | protein_coding | protein_coding | ENST00000594009 | 7 | 12025 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.940 | 0.0596 | 124183 | 0 | 3 | 124186 | 0.0000121 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.897 | 108 | 138 | 0.785 | 0.00000832 | 1462 |
| Missense in Polyphen | 7 | 14.105 | 0.49627 | 149 | ||
| Synonymous | 0.570 | 56 | 61.7 | 0.908 | 0.00000351 | 518 |
| Loss of Function | 3.13 | 1 | 13.3 | 0.0750 | 6.44e-7 | 136 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000378 | 0.0000268 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Stimulates the proliferation of early hematopoietic cells by activating FLT3. Synergizes well with a number of other colony stimulating factors and interleukins.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Differentiation Pathway;Development of pulmonary dendritic cells and macrophage subsets;PI3K-Akt Signaling Pathway;Other interleukin signaling;Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System
(Consensus)
Recessive Scores
- pRec
- 0.143
Intolerance Scores
- loftool
- 0.109
- rvis_EVS
- -0.56
- rvis_percentile_EVS
- 19.31
Haploinsufficiency Scores
- pHI
- 0.243
- hipred
- N
- hipred_score
- 0.432
- ghis
- 0.525
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.439
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Flt3l
- Phenotype
- hematopoietic system phenotype; immune system phenotype; cellular phenotype;
Gene ontology
- Biological process
- MAPK cascade;positive regulation of protein phosphorylation;signal transduction;positive regulation of cell population proliferation;regulation of signaling receptor activity;cytokine-mediated signaling pathway;lymphocyte differentiation;regulation of myeloid dendritic cell activation;positive regulation of natural killer cell proliferation;positive regulation of natural killer cell differentiation;embryonic hemopoiesis;phosphatidylinositol-3-phosphate biosynthetic process;positive regulation of myoblast differentiation;positive regulation of cell cycle;positive regulation of transcription by RNA polymerase II;homeostasis of number of cells within a tissue;positive regulation of cell proliferation in bone marrow;negative regulation of apoptotic process in bone marrow cell;positive regulation of osteoclast proliferation;positive regulation of myoblast fusion
- Cellular component
- extracellular region;extracellular space;cell surface;membrane;integral component of membrane;intrinsic component of external side of plasma membrane
- Molecular function
- Ras guanyl-nucleotide exchange factor activity;signaling receptor binding;cytokine activity;1-phosphatidylinositol-3-kinase activity;receptor tyrosine kinase binding