MAP3K11
Basic information
Region (hg38): 11:65597755-65615382
Previous symbols: [ "MLK3", "PTK1" ]
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 MAP3K11 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 | 48 | 48 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 48 | 0 | 0 |
Variants in MAP3K11
This is a list of pathogenic ClinVar variants found in the MAP3K11 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-65598338-T-G | not specified | Uncertain significance (Feb 17, 2022) | ||
11-65598412-T-G | not specified | Uncertain significance (Mar 23, 2023) | ||
11-65598511-C-A | not specified | Uncertain significance (May 02, 2024) | ||
11-65598526-G-A | not specified | Uncertain significance (Apr 17, 2024) | ||
11-65598557-G-A | not specified | Uncertain significance (Jul 30, 2023) | ||
11-65598580-G-A | not specified | Uncertain significance (Mar 19, 2024) | ||
11-65598592-G-A | not specified | Uncertain significance (Jan 31, 2022) | ||
11-65598596-G-A | not specified | Uncertain significance (Aug 09, 2021) | ||
11-65599414-C-T | not specified | Uncertain significance (Sep 09, 2021) | ||
11-65599489-T-C | not specified | Uncertain significance (May 26, 2024) | ||
11-65599514-T-C | not specified | Uncertain significance (Jun 22, 2023) | ||
11-65599517-G-A | not specified | Uncertain significance (Aug 10, 2021) | ||
11-65599547-G-A | not specified | Uncertain significance (Oct 12, 2022) | ||
11-65599559-G-A | not specified | Uncertain significance (Jun 13, 2024) | ||
11-65599588-C-T | not specified | Uncertain significance (Apr 12, 2024) | ||
11-65599609-G-A | not specified | Uncertain significance (Sep 29, 2023) | ||
11-65599612-G-A | not specified | Uncertain significance (Mar 16, 2022) | ||
11-65599643-C-T | not specified | Uncertain significance (Nov 14, 2023) | ||
11-65599705-C-T | not specified | Uncertain significance (Apr 26, 2024) | ||
11-65599757-G-A | not specified | Uncertain significance (Oct 26, 2022) | ||
11-65599760-G-A | not specified | Uncertain significance (Dec 02, 2021) | ||
11-65605772-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
11-65605799-G-A | not specified | Uncertain significance (Oct 14, 2023) | ||
11-65605813-A-T | not specified | Uncertain significance (Jan 31, 2024) | ||
11-65605976-G-A | not specified | Uncertain significance (Feb 28, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MAP3K11 | protein_coding | protein_coding | ENST00000309100 | 10 | 17628 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0109 | 0.989 | 125723 | 0 | 23 | 125746 | 0.0000915 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.90 | 401 | 524 | 0.766 | 0.0000347 | 5291 |
Missense in Polyphen | 155 | 231.25 | 0.67028 | 2269 | ||
Synonymous | -0.832 | 243 | 227 | 1.07 | 0.0000152 | 1869 |
Loss of Function | 4.06 | 11 | 38.0 | 0.290 | 0.00000239 | 353 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000101 | 0.0000969 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000614 | 0.0000544 |
Finnish | 0.000139 | 0.000139 |
European (Non-Finnish) | 0.000128 | 0.000123 |
Middle Eastern | 0.0000614 | 0.0000544 |
South Asian | 0.0000993 | 0.0000980 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Activates the JUN N-terminal pathway. Required for serum-stimulated cell proliferation and for mitogen and cytokine activation of MAPK14 (p38), MAPK3 (ERK) and MAPK8 (JNK1) through phosphorylation and activation of MAP2K4/MKK4 and MAP2K7/MKK7. Plays a role in mitogen-stimulated phosphorylation and activation of BRAF, but does not phosphorylate BRAF directly. Influences microtubule organization during the cell cycle. {ECO:0000269|PubMed:12529434, ECO:0000269|PubMed:15258589, ECO:0000269|PubMed:8195146, ECO:0000269|PubMed:9003778}.;
- Pathway
- Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;EGF-Core;MAPK Signaling Pathway;4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression;Angiopoietin Like Protein 8 Regulatory Pathway;Insulin Signaling;RAF activation;Disease;Signal Transduction;mapkinase signaling pathway;IL-7 signaling;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;EPO signaling;IFN-gamma pathway;TNFalpha;VEGF;Signaling by moderate kinase activity BRAF mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;RAC1 signaling pathway;Oncogenic MAPK signaling;Diseases of signal transduction;CDC42 signaling events;Reelin signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.248
Intolerance Scores
- loftool
- 0.273
- rvis_EVS
- -0.71
- rvis_percentile_EVS
- 14.71
Haploinsufficiency Scores
- pHI
- 0.229
- hipred
- Y
- hipred_score
- 0.655
- ghis
- 0.608
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.996
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Map3k11
- Phenotype
- immune system phenotype; 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; craniofacial 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); growth/size/body region phenotype;
Gene ontology
- Biological process
- MAPK cascade;activation of MAPK activity;protein phosphorylation;microtubule-based process;JNK cascade;activation of JNKK activity;activation of JUN kinase activity;cell death;cell population proliferation;positive regulation of apoptotic process;positive regulation of JUN kinase activity;positive regulation of neuron apoptotic process;positive regulation of JNK cascade;protein autophosphorylation
- Cellular component
- cytoplasm;centrosome;microtubule;membrane
- Molecular function
- protein kinase activity;protein serine/threonine kinase activity;JUN kinase kinase kinase activity;protein binding;ATP binding;mitogen-activated protein kinase kinase binding;mitogen-activated protein kinase kinase kinase binding;identical protein binding;protein homodimerization activity;Rac GTPase binding