MYRF
myelin regulatory factor
Basic information
Region (hg38): 11:61752635-61788518
Previous symbols: [ "C11orf9" ]
Links
Phenotypes
GenCC
Source:
- encephalitis/encephalopathy, mild, with reversible myelin vacuolization (Limited), mode of inheritance: AD
- cardiac-urogenital syndrome (Strong), mode of inheritance: AD
- cardiac-urogenital syndrome (Strong), mode of inheritance: AD
- encephalitis/encephalopathy, mild, with reversible myelin vacuolization (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Encephalitis/encephalopathy, mild, with reversible myelin vacuolization; Cardiac-urogenital syndrome | AD | Cardiovascular; Neurologic | Encephalitis/encephalopathy, which involves acute reversible encephalopathy in children, and is frequently associated with a trigger, such as a febrile illness, has been reported as being treatable with steroids; Cardiac-urogenital syndrome may involve congenital anomalies (eg, cardiac anomalies), which may benefit from early diagnosis and intervention | Cardiovascular; Gastrointestinal; Genitourinary; Neurologic; Pulmonary | 29265453; 29446546; 30070761; 30532227 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (57 variants)
- Inborn genetic diseases (35 variants)
- Cardiac-urogenital syndrome (19 variants)
- MYRF-related condition (9 variants)
- Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (5 variants)
- not specified (4 variants)
- MYRF-Related Disorders (2 variants)
- Scimitar syndrome (2 variants)
- Cardiac-urogenital syndrome;Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (2 variants)
- Heart, malformation of;Abnormality of the genitourinary system (1 variants)
- Heart, malformation of;Abnormality of the genitourinary system;Congenital diaphragmatic hernia (1 variants)
- Developmental disorder (1 variants)
- Neurodevelopmental disorder (1 variants)
- Dextrocardia (1 variants)
- Encephalitis/encephalopathy, mild, with reversible myelin vacuolization;Cardiac-urogenital syndrome (1 variants)
- Disorder of sexual differentiation (1 variants)
- Non-immune hydrops fetalis (1 variants)
- Heart, malformation of;Congenital diaphragmatic hernia;Abnormality of the genitourinary system (1 variants)
- Seizure (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYRF 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 | 12 | |||||
| missense | 57 | 69 | ||||
| nonsense | 10 | |||||
| start loss | 0 | |||||
| frameshift | 12 | |||||
| inframe indel | 1 | |||||
| splice donor/acceptor (+/-2bp) | 4 | |||||
| splice region ? | 1 | 1 | ||||
| non coding ? | 17 | 18 | ||||
| Total | 14 | 18 | 63 | 6 | 25 |
Variants in MYRF
This is a list of pathogenic ClinVar variants found in the MYRF region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MYRF | protein_coding | protein_coding | ENST00000278836 | 27 | 35877 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 8.37e-8 | 125724 | 0 | 5 | 125729 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.29 | 456 | 701 | 0.650 | 0.0000428 | 7418 |
| Missense in Polyphen | 168 | 300.68 | 0.55874 | 3146 | ||
| Synonymous | 1.16 | 270 | 295 | 0.914 | 0.0000196 | 2345 |
| Loss of Function | 6.55 | 2 | 53.9 | 0.0371 | 0.00000264 | 595 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000297 | 0.0000297 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000793 | 0.0000264 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Myelin regulatory factor: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes (PubMed:23966832). {ECO:0000269|PubMed:23966832}.; FUNCTION: Myelin regulatory factor, N-terminal: Transcription factor that specifically activates expression of myelin genes such as MBP, MOG, MAG, DUSP15 and PLP1 during oligodendrocyte (OL) maturation, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Specifically recognizes and binds DNA sequence 5'-CTGGYAC-3' in the regulatory regions of myelin- specific genes and directly activates their expression. Not only required during oligodendrocyte differentiation but is also required on an ongoing basis for the maintenance of expression of myelin genes and for the maintenance of a mature, viable oligodendrocyte phenotype (PubMed:23966832). {ECO:0000269|PubMed:23966832}.;
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- loftool
- rvis_EVS
- -1.08
- rvis_percentile_EVS
- 7.24
Haploinsufficiency Scores
- pHI
- 0.224
- hipred
- Y
- hipred_score
- 0.572
- ghis
- 0.564
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Myrf
- Phenotype
- vision/eye 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); 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- regulation of transcription by RNA polymerase II;proteolysis;oligodendrocyte development;central nervous system myelination;positive regulation of myelination;central nervous system myelin maintenance;positive regulation of transcription, DNA-templated;oligodendrocyte differentiation
- Cellular component
- nucleus;nucleoplasm;cytoplasm;endoplasmic reticulum membrane;Golgi apparatus;cytosol;integral component of membrane
- Molecular function
- DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;peptidase activity;sequence-specific DNA binding