MAP3K15
Basic information
Region (hg38): X:19360056-19515508
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (192 variants)
- MAP3K15-related_disorder (38 variants)
- not_provided (20 variants)
- Pyruvate_dehydrogenase_E1-alpha_deficiency (15 variants)
- Neurodevelopmental_disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP3K15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001001671.4. 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 | 17 | 21 | ||||
missense | 187 | 11 | 206 | |||
nonsense | 2 | |||||
start loss | 0 | |||||
frameshift | 3 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
Total | 0 | 0 | 192 | 30 | 12 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MAP3K15 | protein_coding | protein_coding | ENST00000338883 | 29 | 155206 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.93e-32 | 0.0000125 | 125588 | 51 | 109 | 125748 | 0.000636 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.783 | 523 | 475 | 1.10 | 0.0000381 | 8531 |
Missense in Polyphen | 139 | 147.53 | 0.94216 | 2838 | ||
Synonymous | -1.53 | 219 | 192 | 1.14 | 0.0000164 | 2514 |
Loss of Function | -0.299 | 47 | 44.8 | 1.05 | 0.00000343 | 801 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00104 | 0.000825 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00214 | 0.00158 |
Finnish | 0.000182 | 0.0000924 |
European (Non-Finnish) | 0.000803 | 0.000554 |
Middle Eastern | 0.00214 | 0.00158 |
South Asian | 0.00238 | 0.00134 |
Other | 0.00180 | 0.00130 |
dbNSFP
Source:
- Function
- FUNCTION: May function in a signal transduction pathway that is activated by various cell stresses and leads to apoptosis. {ECO:0000269|PubMed:20362554}.;
Recessive Scores
- pRec
- 0.0939
Haploinsufficiency Scores
- pHI
- 0.110
- hipred
- N
- hipred_score
- 0.352
- ghis
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.563
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Map3k15
- 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); renal/urinary system phenotype; cellular phenotype;
Gene ontology
- Biological process
- MAPK cascade;activation of MAPKK activity
- Cellular component
- Molecular function
- protein kinase activity;MAP kinase kinase kinase activity;ATP binding;metal ion binding