TRIM49D1

tripartite motif containing 49D1, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 11:89911111-89922245

Previous symbols: [ "TRIM49DP", "TRIM49D1P" ]

Links

ENSG00000223417 ∙ NCBI:399939 ∙ ∙ HGNC:43973 ∙ Uniprot:C9J1S8 ∙ 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 TRIM49D1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM49D1 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			7	2		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	2	0

Variants in TRIM49D1

This is a list of pathogenic ClinVar variants found in the TRIM49D1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-89911609-A-T		not specified	Uncertain significance (Mar 29, 2024)
11-89911723-T-A		not specified	Uncertain significance (Jan 09, 2024)
11-89911805-C-G		not specified	Uncertain significance (Oct 26, 2022)
11-89911846-T-C		not specified	Uncertain significance (Feb 28, 2023)
11-89911942-G-A		not specified	Uncertain significance (Sep 22, 2022)
11-89912019-A-C		not specified	Likely benign (Aug 18, 2021)
11-89912039-G-A		not specified	Likely benign (Jan 26, 2023)
11-89912041-C-T		not specified	Uncertain significance (Oct 02, 2023)
11-89912054-T-C		not specified	Uncertain significance (Dec 18, 2023)
11-89912084-C-A		not specified	Uncertain significance (Sep 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM49D1	protein_coding	protein_coding	ENST00000530311	6	10657

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.291	0.501	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.947	6	17.0	0.353	7.88e-7	3001
Missense in Polyphen		0	3.173	0		548
Synonymous	1.91	0	5.89	0.00	2.55e-7	818
Loss of Function	0.291	0	0.0985	0.00	4.18e-9	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

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