TRIM49

tripartite motif containing 49, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 11:89797654-89808575

Previous symbols: [ "RNF18" ]

Links

ENSG00000168930 ∙ NCBI:57093 ∙ OMIM:606124 ∙ HGNC:13431 ∙ Uniprot:P0CI25 ∙ 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 TRIM49 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM49 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	2		28
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	2	0

Variants in TRIM49

This is a list of pathogenic ClinVar variants found in the TRIM49 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-89798185-G-C		not specified	Uncertain significance (Dec 12, 2023)
11-89798210-G-T		not specified	Uncertain significance (Apr 15, 2024)
11-89798233-G-T		not specified	Uncertain significance (Sep 20, 2023)
11-89798266-C-T		not specified	Uncertain significance (Dec 07, 2021)
11-89798330-T-C		not specified	Uncertain significance (Jan 23, 2024)
11-89798344-C-T		not specified	Uncertain significance (Dec 21, 2023)
11-89798377-A-G		not specified	Uncertain significance (Dec 13, 2022)
11-89798404-C-T		not specified	Uncertain significance (Dec 12, 2022)
11-89798431-C-A		not specified	Uncertain significance (Jun 17, 2024)
11-89798485-G-T		not specified	Uncertain significance (Dec 18, 2023)
11-89798501-C-G		not specified	Uncertain significance (Oct 04, 2022)
11-89798548-T-G		not specified	Uncertain significance (May 15, 2024)
11-89798595-A-C		not specified	Uncertain significance (May 16, 2023)
11-89798611-T-C		not specified	Uncertain significance (Jun 07, 2023)
11-89799718-C-T		not specified	Uncertain significance (Jul 19, 2023)
11-89799719-G-C		not specified	Uncertain significance (Jun 18, 2024)
11-89799737-C-T		not specified	Uncertain significance (Feb 23, 2023)
11-89799742-A-G		not specified	Uncertain significance (Jul 20, 2022)
11-89799760-G-C		not specified	Uncertain significance (Jan 29, 2024)
11-89799782-G-C		not specified	Uncertain significance (May 13, 2022)
11-89799792-G-C		not specified	Uncertain significance (Aug 02, 2022)
11-89801727-T-C		not specified	Uncertain significance (Feb 01, 2023)
11-89801737-C-T		not specified	Uncertain significance (Aug 02, 2021)
11-89801738-G-C		not specified	Likely benign (Apr 07, 2022)
11-89801776-T-C		not specified	Uncertain significance (Mar 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM49	protein_coding	protein_coding	ENST00000329758	6	10921

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.91e-7	0.130	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.412	186	171	1.09	0.00000819	2956
Missense in Polyphen		29	30.98	0.9361		498
Synonymous	-1.01	71	61.0	1.16	0.00000294	772
Loss of Function	-0.384	9	7.84	1.15	3.31e-7	180

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0741

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.290

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0193

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;protein kinase binding