GeneBe

TRIM63

tripartite motif containing 63, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 1:26051301-26068436

Previous symbols: [ "RNF28" ]

Links

ENSG00000158022 ∙ NCBI:84676 ∙ OMIM:606131 ∙ HGNC:16007 ∙ Uniprot:Q969Q1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • hypertrophic cardiomyopathy (Moderate), mode of inheritance: AR
  • hypertrophic cardiomyopathy (Disputed Evidence), mode of inheritance: AD
  • hypertrophic cardiomyopathy (Moderate), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIM63 gene.

  • Inborn_genetic_diseases (61 variants)
  • not_specified (38 variants)
  • not_provided (25 variants)
  • Hypertrophic_cardiomyopathy (14 variants)
  • Cardiovascular_phenotype (12 variants)
  • TRIM63-related_disorder (8 variants)
  • CARDIOMYOPATHY,_FAMILIAL_HYPERTROPHIC,_31 (7 variants)
  • Primary_familial_hypertrophic_cardiomyopathy (6 variants)
  • See_cases (1 variants)
  • Idiopathic_cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM63 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032588.4. 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.

EffectPLPVUSLBBSum
synonymous
14
clinvar
2
clinvar
 16
missense
1
clinvar
1
clinvar
77
clinvar
7
clinvar
 86
nonsense
1
clinvar
2
clinvar
 3
start loss
0
frameshift
1
clinvar
1
clinvar
2
clinvar
 4
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total 3 2 83 21 2

Highest pathogenic variant AF is 0.00013940883

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TRIM63protein_codingprotein_codingENST00000374272 917133
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
4.30e-130.025912551102371257480.000943
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1772122051.030.00001172354
Missense in Polyphen9485.5161.0992889
Synonymous-0.4148580.31.060.00000480618
Loss of Function-0.008631919.01.008.73e-7225

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0009830.000980
Ashkenazi Jewish0.008040.00807
East Asian0.0001630.000163
Finnish0.0007870.000786
European (Non-Finnish)0.0008290.000827
Middle Eastern0.0001630.000163
South Asian0.0002360.000229
Other0.001470.00147

dbNSFP

Source: dbNSFP

Function
FUNCTION: E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti- hypertrophic PKC-mediated signaling pathway. May regulate the organization of myofibrils through TTN in muscle cells. {ECO:0000269|PubMed:11927605, ECO:0000269|PubMed:18222470}.;
Pathway
TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway;Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

pRec
0.388

Intolerance Scores

loftool
0.628
rvis_EVS
-0.4
rvis_percentile_EVS
26.85

Haploinsufficiency Scores

pHI
0.134
hipred
Y
hipred_score
0.520
ghis
0.523

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.905

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Trim63
Phenotype
liver/biliary system phenotype; respiratory system 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); 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); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
muscle contraction;signal transduction;negative regulation of cardiac muscle hypertrophy;skeletal muscle atrophy;response to electrical stimulus involved in regulation of muscle adaptation;protein ubiquitination;response to glucocorticoid;response to interleukin-1
Cellular component
nucleus;cytoplasm;microtubule;Z disc;M band
Molecular function
ubiquitin-protein transferase activity;protein binding;zinc ion binding;titin binding