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.

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.

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						0
missense			26	5		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	5	0

Variants in TRIM45

This is a list of pathogenic ClinVar variants found in the TRIM45 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-117112400-A-G		not specified	Uncertain significance (Jun 12, 2023)
1-117113385-C-A		not specified	Uncertain significance (Sep 29, 2022)
1-117113385-C-T		not specified	Uncertain significance (Feb 05, 2024)
1-117113445-G-A		not specified	Uncertain significance (Dec 27, 2022)
1-117113465-C-G		not specified	Uncertain significance (Apr 07, 2022)
1-117115607-C-T		not specified	Uncertain significance (Dec 11, 2023)
1-117115616-C-T		not specified	Likely benign (Jul 07, 2022)
1-117115621-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-117115630-G-T		not specified	Uncertain significance (Jun 04, 2024)
1-117115665-A-T		not specified	Uncertain significance (Jun 24, 2022)
1-117116620-C-T		not specified	Uncertain significance (May 15, 2024)
1-117116653-C-T		not specified	Likely benign (May 31, 2023)
1-117116706-G-T		not specified	Uncertain significance (Jan 10, 2023)
1-117116718-G-A		not specified	Uncertain significance (May 23, 2023)
1-117118106-G-A		not specified	Uncertain significance (Nov 22, 2022)
1-117118139-G-A		not specified	Likely benign (Oct 10, 2023)
1-117118165-G-A		not specified	Uncertain significance (Jun 07, 2023)
1-117118199-G-A		not specified	Uncertain significance (Jul 12, 2023)
1-117118241-A-G		not specified	Uncertain significance (Feb 21, 2024)
1-117118339-T-A		not specified	Uncertain significance (May 24, 2024)
1-117118448-C-T		not specified	Uncertain significance (Dec 13, 2022)
1-117118511-C-T		not specified	Uncertain significance (Nov 21, 2022)
1-117118552-C-G		not specified	Uncertain significance (Jan 22, 2024)
1-117118585-C-T		not specified	Likely benign (Jul 13, 2021)
1-117118624-C-A		not specified	Uncertain significance (Apr 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM45	protein_coding	protein_coding	ENST00000256649	6	11528

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.06e-8	0.682	125244	4	500	125748	0.00201

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.687	299	334	0.894	0.0000193	3782
Missense in Polyphen		60	79.886	0.75107		938
Synonymous	1.05	120	136	0.885	0.00000782	1168
Loss of Function	1.28	15	21.4	0.701	0.00000112	262

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00460	0.00453
Ashkenazi Jewish	0.00516	0.00517
East Asian	0.000276	0.000272
Finnish	0.000647	0.000647
European (Non-Finnish)	0.00212	0.00210
Middle Eastern	0.000276	0.000272
South Asian	0.00213	0.00209
Other	0.00277	0.00261

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

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

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