MYOG
myogenin, the group of Myogenic regulatory family|Basic helix-loop-helix proteins
Basic information
Region (hg38): 1:203083129-203086012
Previous symbols: [ "MYF4" ]
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 MYOG 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 | 3 | |||||
| missense | 18 | 20 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 18 | 0 | 5 |
Variants in MYOG
This is a list of pathogenic ClinVar variants found in the MYOG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-203083984-G-C | not specified | Uncertain significance (Jul 26, 2021) | ||
| 1-203084654-G-T | not specified | Uncertain significance (Nov 09, 2021) | ||
| 1-203085505-C-T | not specified | Uncertain significance (Feb 05, 2025) | ||
| 1-203085507-C-T | not specified | Uncertain significance (Apr 04, 2023) | ||
| 1-203085510-C-T | not specified | Uncertain significance (Dec 18, 2024) | ||
| 1-203085511-C-G | not specified | Uncertain significance (Jan 11, 2023) | ||
| 1-203085522-C-T | Benign (Dec 17, 2018) | |||
| 1-203085564-T-C | not specified | Uncertain significance (Aug 02, 2022) | ||
| 1-203085570-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
| 1-203085574-C-T | not specified | Uncertain significance (Nov 12, 2024) | ||
| 1-203085599-G-T | Benign (Dec 31, 2019) | |||
| 1-203085605-C-T | Benign (Jan 02, 2019) | |||
| 1-203085623-G-T | not specified | Uncertain significance (Jun 09, 2022) | ||
| 1-203085655-C-T | not specified | Uncertain significance (Apr 08, 2022) | ||
| 1-203085724-C-T | Benign (May 16, 2018) | |||
| 1-203085787-C-T | not specified | Uncertain significance (Aug 20, 2023) | ||
| 1-203085814-G-A | not specified | Uncertain significance (Sep 20, 2023) | ||
| 1-203085817-G-C | not specified | Uncertain significance (Apr 04, 2024) | ||
| 1-203085856-C-G | Likely benign (-) | |||
| 1-203085857-G-A | Benign (May 16, 2018) | |||
| 1-203085877-C-G | not specified | Uncertain significance (Mar 29, 2022) | ||
| 1-203085899-G-T | not specified | Uncertain significance (Feb 05, 2024) | ||
| 1-203085909-T-C | not specified | Uncertain significance (Jun 29, 2023) | ||
| 1-203085940-G-C | not specified | Uncertain significance (Aug 02, 2021) | ||
| 1-203085946-T-G | not specified | Uncertain significance (Aug 12, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MYOG | protein_coding | protein_coding | ENST00000241651 | 3 | 2905 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.896 | 0.103 | 125380 | 0 | 4 | 125384 | 0.0000160 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.550 | 123 | 141 | 0.870 | 0.00000920 | 1429 |
| Missense in Polyphen | 54 | 70.398 | 0.76706 | 739 | ||
| Synonymous | 0.866 | 55 | 63.8 | 0.862 | 0.00000422 | 461 |
| Loss of Function | 2.51 | 0 | 7.33 | 0.00 | 3.12e-7 | 87 |
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 | 0.0000474 | 0.0000464 |
| European (Non-Finnish) | 0.00000913 | 0.00000882 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000658 | 0.0000654 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation, cell cycle exit and muscle atrophy. Essential for the development of functional embryonic skeletal fiber muscle differentiation. However is dispensable for postnatal skeletal muscle growth; phosphorylation by CAMK2G inhibits its transcriptional activity in respons to muscle activity. Required for the recruitment of the FACT complex to muscle-specific promoter regions, thus promoting gene expression initiation. During terminal myoblast differentiation, plays a role as a strong activator of transcription at loci with an open chromatin structure previously initiated by MYOD1. Together with MYF5 and MYOD1, co-occupies muscle-specific gene promoter core regions during myogenesis. Cooperates also with myocyte-specific enhancer factor MEF2D and BRG1-dependent recruitment of SWI/SNF chromatin- remodeling enzymes to alter chromatin structure at myogenic late gene promoters. Facilitates cell cycle exit during terminal muscle differentiation through the up-regulation of miR-20a expression, which in turn represses genes involved in cell cycle progression. Binds to the E-box containing (E1) promoter region of the miR-20a gene. Plays also a role in preventing reversal of muscle cell differentiation. Contributes to the atrophy-related gene expression in adult denervated muscles. Induces fibroblasts to differentiate into myoblasts (By similarity). {ECO:0000250}.;
- Pathway
- Hypertrophy Model;Developmental Biology;CDO in myogenesis;Myogenesis;Regulation of nuclear beta catenin signaling and target gene transcription
(Consensus)
Recessive Scores
- pRec
- 0.627
Intolerance Scores
- loftool
- 0.148
- rvis_EVS
- 0.55
- rvis_percentile_EVS
- 81.38
Haploinsufficiency Scores
- pHI
- 0.780
- hipred
- Y
- hipred_score
- 0.754
- ghis
- 0.450
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.939
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Myog
- Phenotype
- homeostasis/metabolism phenotype; muscle phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); 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; skeleton 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); normal phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- myog
- Affected structure
- cephalic musculature
- Phenotype tag
- abnormal
- Phenotype quality
- aplastic
Gene ontology
- Biological process
- ossification;cell cycle;skeletal muscle tissue development;negative regulation of cell population proliferation;response to gravity;positive regulation of myotube differentiation;skeletal muscle atrophy;positive regulation of muscle atrophy;regulation of skeletal muscle satellite cell proliferation;response to muscle activity involved in regulation of muscle adaptation;response to electrical stimulus involved in regulation of muscle adaptation;striated muscle atrophy;response to denervation involved in regulation of muscle adaptation;skeletal muscle cell differentiation;muscle cell fate commitment;mRNA transcription by RNA polymerase II;skeletal muscle tissue regeneration;myoblast differentiation;positive regulation of myoblast differentiation;negative regulation of glycolytic process;positive regulation of transcription by RNA polymerase II;skeletal muscle fiber development;positive regulation of skeletal muscle fiber development;positive regulation of muscle cell differentiation;positive regulation of cell cycle arrest;cellular response to magnetism;cellular response to lithium ion;cellular response to retinoic acid;cellular response to tumor necrosis factor;cellular response to growth factor stimulus;cellular response to estradiol stimulus;regulation of myoblast fusion;positive regulation of myoblast fusion;positive regulation of oxidative phosphorylation
- Cellular component
- nucleus;nucleoplasm;transcription factor complex;protein-DNA complex
- Molecular function
- RNA polymerase II regulatory region sequence-specific DNA binding;RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;chromatin DNA binding;sequence-specific DNA binding;protein heterodimerization activity;E-box binding