FLRT2
Basic information
Region (hg38): 14:85530144-85654428
Links
Phenotypes
GenCC
Source:
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 FLRT2 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 | 1 | |||||
missense | 33 | 34 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 33 | 1 | 1 |
Variants in FLRT2
This is a list of pathogenic ClinVar variants found in the FLRT2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-85621596-T-G | not specified | Uncertain significance (Apr 22, 2022) | ||
14-85621707-G-A | not specified | Uncertain significance (Dec 06, 2021) | ||
14-85621804-G-T | not specified | Uncertain significance (Jul 13, 2021) | ||
14-85621882-C-T | not specified | Uncertain significance (Dec 14, 2023) | ||
14-85621911-T-G | not specified | Uncertain significance (Aug 30, 2022) | ||
14-85621998-A-C | not specified | Uncertain significance (Jun 13, 2024) | ||
14-85622040-G-T | not specified | Uncertain significance (Jun 29, 2022) | ||
14-85622110-C-T | not specified | Uncertain significance (Mar 01, 2023) | ||
14-85622173-G-C | not specified | Uncertain significance (Jun 29, 2022) | ||
14-85622188-C-T | not specified | Uncertain significance (May 23, 2023) | ||
14-85622223-A-T | not specified | Uncertain significance (Apr 24, 2023) | ||
14-85622242-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
14-85622316-C-T | not specified | Uncertain significance (Sep 21, 2023) | ||
14-85622323-C-T | not specified | Uncertain significance (Oct 26, 2021) | ||
14-85622340-C-T | not specified | Uncertain significance (Dec 21, 2022) | ||
14-85622353-G-A | not specified | Uncertain significance (Oct 20, 2023) | ||
14-85622436-C-T | not specified | Uncertain significance (Feb 06, 2023) | ||
14-85622504-A-G | Benign (Jun 29, 2018) | |||
14-85622626-C-T | not specified | Uncertain significance (Aug 08, 2022) | ||
14-85622688-A-G | Likely benign (Jun 29, 2018) | |||
14-85622712-C-G | not specified | Uncertain significance (Jan 10, 2022) | ||
14-85622713-C-T | not specified | Uncertain significance (Sep 01, 2021) | ||
14-85622734-C-T | not specified | Uncertain significance (Jun 06, 2023) | ||
14-85622859-G-A | not specified | Uncertain significance (May 12, 2024) | ||
14-85622899-T-C | not specified | Uncertain significance (Jun 06, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FLRT2 | protein_coding | protein_coding | ENST00000330753 | 1 | 98547 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.817 | 0.183 | 125725 | 0 | 4 | 125729 | 0.0000159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.28 | 314 | 384 | 0.817 | 0.0000237 | 4309 |
Missense in Polyphen | 57 | 120.5 | 0.47301 | 1401 | ||
Synonymous | -1.70 | 189 | 161 | 1.17 | 0.0000103 | 1361 |
Loss of Function | 3.37 | 3 | 18.8 | 0.160 | 0.00000112 | 203 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00000880 | 0.00000879 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Functions in cell-cell adhesion, cell migration and axon guidance. Mediates cell-cell adhesion via its interactions with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells. May play a role in the migration of cortical neurons during brain development via its interaction with UNC5D. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5D, and possibly also other UNC-5 family members. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal organization of the cardiac basement membrane during embryogenesis, and for normal embryonic epicardium and heart morphogenesis. {ECO:0000250|UniProtKB:Q8BLU0}.;
- Pathway
- Signal Transduction;Signaling by FGFR;Signaling by Receptor Tyrosine Kinases;Downstream signaling of activated FGFR1;Signaling by FGFR1
(Consensus)
Recessive Scores
- pRec
- 0.110
Intolerance Scores
- loftool
- rvis_EVS
- -0.04
- rvis_percentile_EVS
- 50.45
Haploinsufficiency Scores
- pHI
- 0.224
- hipred
- Y
- hipred_score
- 0.696
- ghis
- 0.505
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.537
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Flrt2
- 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- heart morphogenesis;axon guidance;biological_process;fibroblast growth factor receptor signaling pathway;negative chemotaxis;positive regulation of synapse assembly;cell adhesion involved in heart morphogenesis;basement membrane organization;regulation of neuron migration
- Cellular component
- endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane;cell-cell junction;focal adhesion;extracellular matrix;organelle membrane;neuron projection;synapse;extracellular exosome
- Molecular function
- fibroblast growth factor receptor binding;protein binding, bridging;chemorepellent activity