TRIM49B

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

Basic information

Region (hg38): 11:49027500-49038451

Links

ENSG00000182053 ∙ NCBI:283116 ∙ ∙ HGNC:42955 ∙ Uniprot:A6NDI0 ∙ 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 TRIM49B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM49B 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			32	4		36
nonsense						0
start loss					1	1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	32	4	1

Variants in TRIM49B

This is a list of pathogenic ClinVar variants found in the TRIM49B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-49031600-A-G			Benign (Sep 28, 2017)
11-49031612-A-G		not specified	Uncertain significance (Oct 22, 2021)
11-49031640-T-C		not specified	Likely benign (Feb 15, 2023)
11-49031660-T-C		not specified	Uncertain significance (Nov 01, 2022)
11-49031723-A-C		not specified	Uncertain significance (Oct 02, 2023)
11-49031778-G-A		not specified	Uncertain significance (Jan 03, 2024)
11-49031822-T-C		not specified	Uncertain significance (Oct 04, 2022)
11-49031901-A-G		not specified	Uncertain significance (Aug 09, 2021)
11-49031950-C-G		not specified	Uncertain significance (Feb 28, 2023)
11-49031963-C-T		not specified	Uncertain significance (Jun 28, 2022)
11-49031991-C-T		not specified	Uncertain significance (Jun 13, 2024)
11-49032278-G-A			Likely benign (Feb 01, 2023)
11-49032310-A-G		not specified	Uncertain significance (Mar 18, 2024)
11-49032326-T-A		not specified	Uncertain significance (Jul 13, 2021)
11-49032339-A-G		not specified	Uncertain significance (Dec 27, 2022)
11-49032357-A-G		not specified	Uncertain significance (Dec 17, 2023)
11-49032366-T-G		not specified	Uncertain significance (Dec 14, 2023)
11-49034196-G-A		not specified	Uncertain significance (Jan 22, 2024)
11-49034233-G-A		not specified	Uncertain significance (Mar 18, 2024)
11-49034270-G-A		not specified	Likely benign (Sep 14, 2023)
11-49034324-T-C		not specified	Uncertain significance (Oct 05, 2022)
11-49034340-C-G		not specified	Likely benign (Apr 01, 2024)
11-49034351-A-G		not specified	Uncertain significance (Sep 21, 2023)
11-49034362-G-A		not specified	Uncertain significance (Jul 20, 2021)
11-49035096-C-G		not specified	Likely benign (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM49B	protein_coding	protein_coding	ENST00000332682	6	9076

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.39e-9	0.139	125666	0	82	125748	0.000326

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.58	292	225	1.30	0.0000105	3035
Missense in Polyphen		51	41.692	1.2233		585
Synonymous	-3.70	120	78.4	1.53	0.00000376	791
Loss of Function	0.177	13	13.7	0.949	6.48e-7	182

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000156	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000273	0.000272
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000983	0.0000967
Middle Eastern	0.000273	0.000272
South Asian	0.00196	0.00196
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N

Gene Damage Prediction

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

Gene ontology

• Molecular function: zinc ion binding