TRIM49C

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

Basic information

Region (hg38): 11:90031106-90042025

Previous symbols: [ "TRIM49L2" ]

Links

ENSG00000204449 ∙ NCBI:642612 ∙ ∙ HGNC:38877 ∙ Uniprot:P0CI26 ∙ 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 TRIM49C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM49C 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				1		1
missense			21	4		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	5	0

Variants in TRIM49C

This is a list of pathogenic ClinVar variants found in the TRIM49C region.

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

Position	Type	Phenotype	Significance	ClinVar
11-90035302-G-A		not specified	Uncertain significance (Jul 12, 2022)
11-90035390-A-G		not specified	Uncertain significance (May 26, 2022)
11-90035396-T-G		not specified	Likely benign (May 26, 2022)
11-90035421-G-C		not specified	Uncertain significance (Apr 04, 2024)
11-90035423-A-G		not specified	Uncertain significance (Aug 29, 2022)
11-90035447-A-G		not specified	Uncertain significance (May 06, 2024)
11-90035485-A-C		not specified	Uncertain significance (May 16, 2022)
11-90035530-G-A		not specified	Uncertain significance (Dec 13, 2022)
11-90035539-C-A		not specified	Uncertain significance (Jun 13, 2023)
11-90035567-A-T		not specified	Uncertain significance (May 09, 2022)
11-90035575-C-T		not specified	Uncertain significance (Jan 08, 2024)
11-90035620-C-T		not specified	Uncertain significance (Apr 12, 2022)
11-90035900-C-A		not specified	Likely benign (Jan 24, 2023)
11-90035976-G-T		not specified	Uncertain significance (Oct 05, 2021)
11-90037943-C-G		not specified	Likely benign (Mar 25, 2022)
11-90037944-G-A		not specified	Uncertain significance (Jan 09, 2024)
11-90038694-C-G		not specified	Likely benign (Jan 04, 2022)
11-90039887-A-G		not specified	Uncertain significance (Dec 19, 2022)
11-90039888-T-C		not specified	Uncertain significance (Jul 15, 2021)
11-90039926-A-T		not specified	Uncertain significance (Feb 21, 2024)
11-90041069-A-G		not specified	Uncertain significance (Jun 07, 2023)
11-90041078-C-A		not specified	Uncertain significance (May 31, 2023)
11-90041118-G-A		not specified	Uncertain significance (Jan 03, 2024)
11-90041171-G-T		not specified	Uncertain significance (Sep 16, 2021)
11-90041213-A-G		not specified	Uncertain significance (Jan 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM49C	protein_coding	protein_coding	ENST00000448984	6	42285

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000142	0.431	101572	0	1	101573	0.00000492

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.101	151	155	0.977	0.00000721	2986
Missense in Polyphen		26	31.63	0.82201		549
Synonymous	-1.41	66	53.0	1.25	0.00000246	773
Loss of Function	0.201	6	6.56	0.915	2.77e-7	183

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)	0.0000110	0.0000110
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: 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