TMEM43
Basic information
Region (hg38): 3:14125015-14143680
Previous symbols: [ "ARVD5" ]
Links
Phenotypes
GenCC
Source:
- arrhythmogenic right ventricular dysplasia 5 (Moderate), mode of inheritance: AD
- autosomal dominant Emery-Dreifuss muscular dystrophy (Supportive), mode of inheritance: AD
- auditory neuropathy, autosomal dominant 3 (Limited), mode of inheritance: AD
- arrhythmogenic right ventricular dysplasia 5 (Definitive), mode of inheritance: AD
- auditory neuropathy, autosomal dominant 3 (Limited), mode of inheritance: AD
- arrhythmogenic right ventricular dysplasia 5 (Strong), mode of inheritance: AD
- Emery-Dreifuss muscular dystrophy 7, autosomal dominant (Limited), mode of inheritance: AD
- arrhythmogenic right ventricular dysplasia 5 (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant | AD | Cardiovascular | Individuals may manifest with arrhythmias (which have been reported in multiple individuals with EDMD 7), syncope, cardiac arrest, and sudden death, and surveillance may allow early diagnosis of sequelae; Preventive measures (eg, with antiarrhythmic pharmacologic agents and/or ICD placement) may be beneficial, though some individuals may require heart transplantation | Audiologic/Otolaryngologic; Cardiovascular; Musculoskeletal | 18313022; 20301310; 21391237; 34050020 |
ClinVar
This is a list of variants' phenotypes submitted to
- Arrhythmogenic_right_ventricular_dysplasia_5 (803 variants)
- Cardiomyopathy (391 variants)
- Cardiovascular_phenotype (336 variants)
- not_provided (200 variants)
- not_specified (119 variants)
- Emery-Dreifuss_muscular_dystrophy_7,_autosomal_dominant (64 variants)
- Auditory_neuropathy,_autosomal_dominant_3 (61 variants)
- TMEM43-related_disorder (26 variants)
- Arrhythmogenic_right_ventricular_cardiomyopathy (8 variants)
- Primary_dilated_cardiomyopathy (2 variants)
- Sudden_cardiac_arrest (2 variants)
- Hypertrophic_cardiomyopathy (1 variants)
- Left_ventricular_noncompaction_cardiomyopathy (1 variants)
- Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant (1 variants)
- Long_QT_syndrome (1 variants)
- See_cases (1 variants)
- Primary_familial_hypertrophic_cardiomyopathy (1 variants)
- Familial_isolated_arrhythmogenic_right_ventricular_dysplasia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM43 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024334.3. 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 | 196 | 206 | ||||
missense | 445 | 61 | 513 | |||
nonsense | 16 | 16 | ||||
start loss | 3 | 3 | ||||
frameshift | 42 | 45 | ||||
splice donor/acceptor (+/-2bp) | 18 | 19 | ||||
Total | 1 | 4 | 531 | 259 | 7 |
Highest pathogenic variant AF is 0.000010260704
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TMEM43 | protein_coding | protein_coding | ENST00000306077 | 12 | 18740 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.16e-12 | 0.0873 | 125638 | 1 | 109 | 125748 | 0.000437 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.422 | 262 | 243 | 1.08 | 0.0000150 | 2586 |
Missense in Polyphen | 69 | 76.751 | 0.89902 | 835 | ||
Synonymous | -0.565 | 108 | 101 | 1.07 | 0.00000649 | 818 |
Loss of Function | 0.539 | 20 | 22.8 | 0.878 | 0.00000125 | 249 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00211 | 0.00211 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000381 | 0.000381 |
Finnish | 0.000185 | 0.000185 |
European (Non-Finnish) | 0.000238 | 0.000229 |
Middle Eastern | 0.000381 | 0.000381 |
South Asian | 0.000196 | 0.000196 |
Other | 0.000326 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). {ECO:0000250}.;
- Disease
- DISEASE: Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:21391237}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- miR-targeted genes in adipocytes - TarBase;miR-targeted genes in epithelium - TarBase;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase
(Consensus)
Recessive Scores
- pRec
- 0.112
Intolerance Scores
- loftool
- 0.856
- rvis_EVS
- 0.6
- rvis_percentile_EVS
- 82.83
Haploinsufficiency Scores
- pHI
- 0.122
- hipred
- N
- hipred_score
- 0.172
- ghis
- 0.544
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.933
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Tmem43
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- nuclear membrane organization
- Cellular component
- integral component of nuclear inner membrane;endoplasmic reticulum lumen;Golgi apparatus
- Molecular function
- protein binding;protein self-association