MAP3K15

mitogen-activated protein kinase kinase kinase 15, the group of Mitogen-activated protein kinase kinase kinases

Basic information

Region (hg38): X:19360056-19515508

Links

ENSG00000180815NCBI:389840OMIM:300820HGNC:31689Uniprot:Q6ZN16AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAP3K15 gene.

  • 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.

EffectPLPVUSLBBSum
synonymous
17
clinvar
4
clinvar
21
missense
187
clinvar
11
clinvar
8
clinvar
206
nonsense
2
clinvar
2
start loss
0
frameshift
2
clinvar
1
clinvar
3
splice donor/acceptor (+/-2bp)
1
clinvar
1
clinvar
2
Total 0 0 192 30 12
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MAP3K15protein_codingprotein_codingENST00000338883 29155206
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.93e-320.0000125125588511091257480.000636
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.7835234751.100.00003818531
Missense in Polyphen139147.530.942162838
Synonymous-1.532191921.140.00001642514
Loss of Function-0.2994744.81.050.00000343801

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001040.000825
Ashkenazi Jewish0.000.00
East Asian0.002140.00158
Finnish0.0001820.0000924
European (Non-Finnish)0.0008030.000554
Middle Eastern0.002140.00158
South Asian0.002380.00134
Other0.001800.00130

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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