GeneBe

TRIM45

tripartite motif containing 45, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 1:117111060-117122587

Links

ENSG00000134253 ∙ NCBI:80263 ∙ OMIM:609318 ∙ HGNC:19018 ∙ Uniprot:Q9H8W5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIM45 gene.

  • not_specified (80 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM45 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025188.4. 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
0
missense
72
clinvar
8
clinvar
 80
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 72 8 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TRIM45protein_codingprotein_codingENST00000256649 611528
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.06e-80.68212524445001257480.00201
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6872993340.8940.00001933782
Missense in Polyphen6079.8860.75107938
Synonymous1.051201360.8850.000007821168
Loss of Function1.281521.40.7010.00000112262

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004600.00453
Ashkenazi Jewish0.005160.00517
East Asian0.0002760.000272
Finnish0.0006470.000647
European (Non-Finnish)0.002120.00210
Middle Eastern0.0002760.000272
South Asian0.002130.00209
Other0.002770.00261

dbNSFP

Source: dbNSFP

Function
FUNCTION: May act as a transcriptional repressor in mitogen- activated protein kinase signaling pathway. {ECO:0000269|PubMed:15351693}.;
Pathway
Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling (Consensus)

Recessive Scores

pRec
0.0944

Intolerance Scores

loftool
0.162
rvis_EVS
1.49
rvis_percentile_EVS
95.35

Haploinsufficiency Scores

pHI
0.210
hipred
N
hipred_score
0.251
ghis
0.403

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.102

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumHigh

Mouse Genome Informatics

Gene name
Trim45
Phenotype
homeostasis/metabolism phenotype; vision/eye 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); embryo phenotype; immune system phenotype; skeleton 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);

Gene ontology

Biological process
bone development
Cellular component
nucleoplasm;cytosol;intercellular bridge
Molecular function
zinc ion binding