TRIM55

tripartite motif containing 55, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 8:66126896-66175485

Previous symbols: [ "RNF29" ]

Links

ENSG00000147573 ∙ NCBI:84675 ∙ OMIM:606469 ∙ HGNC:14215 ∙ Uniprot:Q9BYV6 ∙ 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 TRIM55 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM55 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				8	4	12
missense			27	2	1	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	27	10	5

Variants in TRIM55

This is a list of pathogenic ClinVar variants found in the TRIM55 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-66127276-C-T		not specified	Uncertain significance (May 14, 2024)
8-66127277-A-G		TRIM55-related disorder	Likely benign (Aug 09, 2019)
8-66127334-G-A		TRIM55-related disorder	Likely benign (Mar 01, 2019)
8-66127345-G-A		not specified	Uncertain significance (Dec 07, 2021)
8-66127370-G-A		TRIM55-related disorder	Benign (Aug 01, 2019)
8-66128314-C-T		not specified	Uncertain significance (Aug 16, 2022)
8-66128326-C-T		not specified	Uncertain significance (Jul 30, 2023)
8-66128351-A-T		TRIM55-related disorder	Likely benign (Aug 09, 2019)
8-66135006-G-T		TRIM55-related disorder • not specified	Uncertain significance (Jul 14, 2021)
8-66135039-C-T		not specified	Uncertain significance (Aug 10, 2021)
8-66135040-G-A		not specified	Uncertain significance (Oct 17, 2023)
8-66135113-C-G		not specified	Uncertain significance (Jun 04, 2024)
8-66135130-T-G		not specified	Uncertain significance (Oct 03, 2022)
8-66135141-T-C		not specified	Uncertain significance (Jun 21, 2023)
8-66135149-A-G		TRIM55-related disorder	Likely benign (Jun 26, 2019)
8-66137119-A-G		not specified	Likely benign (Apr 06, 2024)
8-66137140-C-A		TRIM55-related disorder	Likely benign (Nov 26, 2019)
8-66149654-A-G		not specified	Uncertain significance (May 23, 2024)
8-66149745-G-A		TRIM55-related disorder	Likely benign (Apr 21, 2022)
8-66149748-C-T		not specified	Uncertain significance (May 14, 2024)
8-66149756-G-A		not specified	Uncertain significance (Jan 26, 2022)
8-66149777-G-T		not specified	Uncertain significance (Sep 27, 2022)
8-66149812-C-T		TRIM55-related disorder	Benign (Feb 21, 2019)
8-66150348-G-A		TRIM55-related disorder	Benign (Feb 22, 2019)
8-66150406-C-A		not specified	Uncertain significance (Jun 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM55	protein_coding	protein_coding	ENST00000315962	10	48590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.90e-14	0.117	125525	1	222	125748	0.000887

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0699	308	305	1.01	0.0000157	3589
Missense in Polyphen		90	97.342	0.92458		1183
Synonymous	0.156	111	113	0.981	0.00000625	1052
Loss of Function	0.824	23	27.7	0.831	0.00000141	332

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00133	0.00133
Ashkenazi Jewish	0.0132	0.0132
East Asian	0.000599	0.000598
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000203	0.000202
Middle Eastern	0.000599	0.000598
South Asian	0.000490	0.000490
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate gene expression and protein turnover in muscle cells. {ECO:0000250}.

Recessive Scores

• pRec: 0.0880

Intolerance Scores

• loftool: 0.968
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.56

Haploinsufficiency Scores

• pHI: 0.443
• hipred: N
• hipred_score: 0.500
• ghis: 0.434

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.891

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim55
• Phenotype: liver/biliary system phenotype; respiratory system phenotype; 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); 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); growth/size/body region phenotype; muscle phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: signal transduction
• Cellular component: nucleus;cytoplasm;microtubule
• Molecular function: protein binding;zinc ion binding;identical protein binding