GAS6
growth arrest specific 6, the group of Gla domain containing
Basic information
Region (hg38): 13:113820549-113864076
Previous symbols: [ "AXLLG" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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 GAS6 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 | 5 | |||||
| missense | 50 | 60 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | 2 | |||
| non coding | 0 | |||||
| Total | 0 | 0 | 50 | 7 | 8 |
Variants in GAS6
This is a list of pathogenic ClinVar variants found in the GAS6 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 13-113820886-G-A | not specified | Uncertain significance (Mar 27, 2023) | ||
| 13-113820958-A-C | not specified | Uncertain significance (Mar 01, 2024) | ||
| 13-113820989-C-T | not specified | Uncertain significance (Aug 05, 2023) | ||
| 13-113820999-C-T | Likely benign (Jun 01, 2018) | |||
| 13-113821021-G-A | Likely benign (Feb 26, 2018) | |||
| 13-113821970-C-T | not specified | Uncertain significance (Dec 15, 2021) | ||
| 13-113821993-C-T | Benign (Jul 04, 2018) | |||
| 13-113822006-C-T | Benign (Apr 10, 2018) | |||
| 13-113822012-C-T | not specified | Uncertain significance (Mar 23, 2022) | ||
| 13-113822048-C-T | not specified | Uncertain significance (Mar 23, 2022) | ||
| 13-113822049-G-A | Benign (Jul 16, 2018) | |||
| 13-113822071-A-G | not specified | Uncertain significance (Feb 12, 2024) | ||
| 13-113822075-C-G | not specified | Uncertain significance (Jan 23, 2024) | ||
| 13-113822090-C-A | not specified | Uncertain significance (May 12, 2024) | ||
| 13-113822101-G-A | Benign (Apr 10, 2018) | |||
| 13-113822120-C-T | not specified | Uncertain significance (Jan 07, 2022) | ||
| 13-113822125-C-T | not specified | Uncertain significance (Dec 12, 2023) | ||
| 13-113822150-G-T | not specified | Uncertain significance (Aug 12, 2021) | ||
| 13-113823388-T-G | not specified | Uncertain significance (Jul 12, 2023) | ||
| 13-113823403-T-C | not specified | Uncertain significance (Mar 16, 2022) | ||
| 13-113823436-C-T | not specified | Likely benign (Sep 28, 2022) | ||
| 13-113823437-G-A | not specified | Uncertain significance (May 09, 2023) | ||
| 13-113823530-C-T | Benign (May 09, 2018) | |||
| 13-113823531-G-A | Benign (Jul 18, 2018) | |||
| 13-113823533-C-T | not specified | Likely benign (Dec 20, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GAS6 | protein_coding | protein_coding | ENST00000327773 | 15 | 43525 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0345 | 0.966 | 125676 | 0 | 20 | 125696 | 0.0000796 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.19 | 344 | 412 | 0.835 | 0.0000275 | 4366 |
| Missense in Polyphen | 149 | 197.43 | 0.75472 | 2095 | ||
| Synonymous | -0.103 | 193 | 191 | 1.01 | 0.0000151 | 1357 |
| Loss of Function | 3.80 | 9 | 32.3 | 0.278 | 0.00000163 | 369 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000244 | 0.000239 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000143 | 0.000123 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signaling is implicated in cell growth and survival, cell adhesion and cell migration. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. {ECO:0000269|PubMed:12364394, ECO:0000269|PubMed:18840707}.;
- Pathway
- Warfarin Pathway, Pharmacodynamics;Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Gamma-carboxylation of protein precursors;Removal of aminoterminal propeptides from gamma-carboxylated proteins;Gamma-carboxylation, transport, and amino-terminal cleavage of proteins;Gamma carboxylation, hypusine formation and arylsulfatase activation;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Cell surface interactions at the vascular wall;Hemostasis
(Consensus)
Recessive Scores
- pRec
- 0.266
Intolerance Scores
- loftool
- 0.327
- rvis_EVS
- -0.44
- rvis_percentile_EVS
- 24.68
Haploinsufficiency Scores
- pHI
- 0.182
- hipred
- Y
- hipred_score
- 0.708
- ghis
- 0.506
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.736
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gas6
- Phenotype
- hematopoietic system phenotype; 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); renal/urinary system phenotype; hearing/vestibular/ear phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Zebrafish Information Network
- Gene name
- gas6
- Affected structure
- dorsal longitudinal anastomotic vessel
- Phenotype tag
- abnormal
- Phenotype quality
- malformed
Gene ontology
- Biological process
- neuron migration;positive regulation of protein phosphorylation;positive regulation of cytokine-mediated signaling pathway;platelet degranulation;positive regulation of glomerular filtration;protein phosphorylation;endoplasmic reticulum to Golgi vesicle-mediated transport;phagocytosis;apoptotic process;cell cycle arrest;cell adhesion;signal transduction;enzyme linked receptor protein signaling pathway;cell population proliferation;cellular response to starvation;regulation of signaling receptor activity;positive regulation of gene expression;negative regulation of tumor necrosis factor-mediated signaling pathway;macrophage cytokine production;cell migration;peptidyl-serine phosphorylation;fusion of virus membrane with host plasma membrane;viral genome replication;platelet activation;animal organ regeneration;cell-substrate adhesion;positive regulation of TOR signaling;activation of protein kinase B activity;negative regulation of interferon-gamma production;negative regulation of interleukin-6 production;negative regulation of tumor necrosis factor production;positive regulation of natural killer cell differentiation;positive regulation of peptidyl-serine phosphorylation;obsolete negative regulation of protein import into nucleus, translocation;cellular response to interferon-alpha;cellular response to drug;B cell chemotaxis;regulation of growth;negative regulation of apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;apoptotic cell clearance;negative regulation of DNA-binding transcription factor activity;protein kinase B signaling;post-translational protein modification;cellular protein metabolic process;positive regulation of protein kinase activity;negative regulation of transcription, DNA-templated;viral entry into host cell;receptor-mediated virion attachment to host cell;positive regulation of protein export from nucleus;positive regulation of fibroblast proliferation;negative regulation of interleukin-1 secretion;positive regulation of phagocytosis;leukocyte migration;positive regulation of protein kinase B signaling;positive regulation of protein tyrosine kinase activity;negative regulation of biomineral tissue development;positive regulation of ERK1 and ERK2 cascade;platelet aggregation;calcium ion transmembrane transport;cellular response to vitamin K;cellular response to glucose stimulus;cellular response to growth factor stimulus;protein localization to plasma membrane;extracellular matrix assembly;dendritic cell differentiation;hematopoietic stem cell migration to bone marrow;negative regulation of oligodendrocyte apoptotic process;negative regulation of interleukin-6 secretion;negative regulation of fibroblast apoptotic process;negative regulation of endothelial cell apoptotic process;positive regulation of dendritic cell chemotaxis;negative regulation of renal albumin absorption;negative regulation of dendritic cell apoptotic process
- Cellular component
- extracellular region;extracellular space;cytoplasm;endoplasmic reticulum lumen;Golgi lumen;platelet alpha granule lumen;extracellular exosome
- Molecular function
- phosphatidylserine binding;signaling receptor binding;voltage-gated calcium channel activity;calcium ion binding;protein binding;protein tyrosine kinase activator activity;receptor tyrosine kinase binding;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;receptor ligand activity;molecular adaptor activity