TRIM43

tripartite motif containing 43, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 2:95592001-95599778

Links

ENSG00000144015 ∙ NCBI:129868 ∙ ∙ HGNC:19015 ∙ Uniprot:Q96BQ3 ∙ 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 TRIM43 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM43 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			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in TRIM43

This is a list of pathogenic ClinVar variants found in the TRIM43 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-95594046-C-G		not specified	Uncertain significance (Nov 07, 2022)
2-95594189-A-T		not specified	Uncertain significance (Dec 18, 2023)
2-95594192-G-A		not specified	Uncertain significance (Oct 26, 2021)
2-95594298-T-C		not specified	Uncertain significance (May 22, 2023)
2-95594402-C-T		not specified	Likely benign (Dec 20, 2022)
2-95594411-G-A		not specified	Uncertain significance (Apr 12, 2024)
2-95594418-C-T		not specified	Uncertain significance (May 23, 2023)
2-95594429-C-G		not specified	Uncertain significance (Nov 18, 2023)
2-95594432-C-T		not specified	Uncertain significance (Feb 10, 2022)
2-95595084-A-C		not specified	Uncertain significance (Sep 20, 2023)
2-95595113-T-C		not specified	Uncertain significance (Oct 12, 2022)
2-95596279-A-T		not specified	Uncertain significance (Jun 02, 2023)
2-95596415-G-T		not specified	Uncertain significance (Jun 06, 2023)
2-95599437-G-A		not specified	Uncertain significance (Feb 10, 2022)
2-95599536-T-C		not specified	Uncertain significance (Feb 08, 2023)
2-95599552-C-A		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM43	protein_coding	protein_coding	ENST00000272395	6	7761

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0100	0.948	125541	0	8	125549	0.0000319

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.129	136	132	1.03	0.00000641	2964
Missense in Polyphen		23	28.626	0.80347		689
Synonymous	-0.813	55	47.8	1.15	0.00000256	774
Loss of Function	1.76	5	11.4	0.437	4.81e-7	190

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000907	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000371	0.0000353
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.255
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.284

Gene Damage Prediction

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

Gene ontology

• Molecular function: protein binding;zinc ion binding