RBM20

RNA binding motif protein 20, the group of RNA binding motif containing

Basic information

Region (hg38): 10:110644336-110839471

Links

ENSG00000203867 ∙ NCBI:282996 ∙ OMIM:613171 ∙ HGNC:27424 ∙ Uniprot:Q5T481 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• familial isolated dilated cardiomyopathy (Supportive), mode of inheritance: AD
• dilated cardiomyopathy 1DD (Strong), mode of inheritance: AD
• dilated cardiomyopathy 1DD (Definitive), mode of inheritance: AD
• dilated cardiomyopathy 1DD (Strong), mode of inheritance: AD
• hypertrophic cardiomyopathy (Limited), mode of inheritance: AD
• dilated cardiomyopathy (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiomyopathy, dilated, 1DD	AD	Cardiovascular	Surveillance (eg, with echocardiography and electrocardiography), preventive measures and medical management may help decrease morbidity; Cardiac transplantation has been described	Cardiovascular	19712804; 20590677; 21846512

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RBM20 gene.

• Dilated_cardiomyopathy_1DD (1670 variants)
• Cardiovascular_phenotype (889 variants)
• not_provided (412 variants)
• not_specified (264 variants)
• Cardiomyopathy (113 variants)
• Primary_dilated_cardiomyopathy (39 variants)
• RBM20-related_disorder (32 variants)
• Primary_familial_hypertrophic_cardiomyopathy (7 variants)
• Hypertrophic_cardiomyopathy (7 variants)
• Primary_familial_dilated_cardiomyopathy (6 variants)
• Long_QT_syndrome (5 variants)
• Dilated_cardiomyopathy_1A (4 variants)
• Arrhythmogenic_right_ventricular_cardiomyopathy (4 variants)
• Dilated_Cardiomyopathy,_Dominant (2 variants)
• Left_ventricular_noncompaction_cardiomyopathy (2 variants)
• Dilated_cardiomyopathy_1S (2 variants)
• Ventricular_fibrillation,_paroxysmal_familial,_type_1 (2 variants)
• Pulmonary_valve_stenosis_(rare) (1 variants)
• Cardiac_arrest (1 variants)
• Wolff-Parkinson-White_pattern (1 variants)
• sudden_unexplained_death_in_epilepsy (1 variants)
• Conduction_disorder_of_the_heart (1 variants)
• Heart_failure (1 variants)
• See_cases (1 variants)
• Ventricular_tachycardia (1 variants)
• Familial_dilated_cardiomyopathy_and_peripheral_neuropathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM20 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001134363.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			10	508	10	528
missense	4	21	837	300	11	1173
nonsense	1	5	42	1		49
start loss						0
frameshift		12	62	1		75
splice donor/acceptor (+/-2bp)		1	12			13
Total	5	39	963	810	21

Highest pathogenic variant AF is 0.000026430775

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBM20	protein_coding	protein_coding	ENST00000369519	14	195073

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.990	0.0105	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.67	543	664	0.818	0.0000376	7995
Missense in Polyphen		184	246.54	0.74633		2879
Synonymous	2.10	226	270	0.837	0.0000165	2450
Loss of Function	5.22	7	44.6	0.157	0.00000218	575

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: dbNSFP

• Function: FUNCTION: RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin). {ECO:0000269|PubMed:22466703}.

Intolerance Scores

• rvis_EVS: 1.02
• rvis_percentile_EVS: 90.98

Haploinsufficiency Scores

• pHI: 0.359

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.140

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rbm20
• Phenotype: homeostasis/metabolism phenotype; muscle 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)

Gene ontology

• Biological process: mRNA processing;heart development;RNA splicing;positive regulation of RNA splicing
• Cellular component: nucleus
• Molecular function: RNA binding;zinc ion binding