MESP1
mesoderm posterior bHLH transcription factor 1, the group of Basic helix-loop-helix proteins
Basic information
Region (hg38): 15:89749875-89751249
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (74 variants)
- not_provided (69 variants)
- MESP1-related_disorder (16 variants)
- Congenital_heart_disease (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MESP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018670.4. 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 | 14 | 19 | ||||
| missense | 92 | 104 | ||||
| nonsense | 2 | |||||
| start loss | 0 | |||||
| frameshift | 3 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 96 | 18 | 14 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MESP1 | protein_coding | protein_coding | ENST00000300057 | 2 | 2650 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000861 | 0.193 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.348 | 74 | 82.9 | 0.892 | 0.00000391 | 1552 |
| Missense in Polyphen | 25 | 30.275 | 0.82576 | 500 | ||
| Synonymous | 0.0186 | 39 | 39.1 | 0.996 | 0.00000192 | 591 |
| Loss of Function | -1.09 | 5 | 2.97 | 1.68 | 1.28e-7 | 55 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways (By similarity). {ECO:0000250}.;
- Pathway
- Cardiac Progenitor Differentiation
(Consensus)
Recessive Scores
- pRec
- 0.123
Haploinsufficiency Scores
- pHI
- 0.123
- hipred
- N
- hipred_score
- 0.139
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.127
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mesp1
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; hearing/vestibular/ear 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); muscle phenotype; normal 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); 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); hematopoietic system phenotype; respiratory system phenotype; embryo phenotype; skeleton phenotype; immune system phenotype;
Zebrafish Information Network
- Gene name
- mespbb
- Affected structure
- determination of heart left/right asymmetry
- Phenotype tag
- abnormal
- Phenotype quality
- decreased efficacy
Gene ontology
- Biological process
- mesoderm formation;somitogenesis;heart looping;heart morphogenesis;secondary heart field specification;embryonic heart tube morphogenesis;cardiac atrium formation;cardiac ventricle formation;sinus venosus morphogenesis;growth involved in heart morphogenesis;cardioblast anterior-lateral migration;Notch signaling pathway;gastrulation;mesodermal cell migration;neurogenesis;signal transduction involved in regulation of gene expression;positive regulation of Notch signaling pathway involved in heart induction;negative regulation of mesodermal cell fate specification;negative regulation of endodermal cell fate specification;endothelial cell differentiation;positive regulation of Notch signaling pathway;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;lateral mesoderm development;positive regulation of striated muscle cell differentiation;cardiac muscle cell differentiation;cardiac cell fate determination;sinoatrial node cell differentiation;cardiac vascular smooth muscle cell differentiation;cardioblast migration to the midline involved in heart field formation;positive regulation of hepatocyte differentiation;positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway
- Cellular component
- nucleus
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;enhancer binding;transcription regulatory region DNA binding;protein dimerization activity