TRIM64C

tripartite motif containing 64C, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 11:49053714-49059112

Links

ENSG00000214891 ∙ NCBI:646754 ∙ ∙ HGNC:37148 ∙ Uniprot:A6NLI5 ∙ 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 TRIM64C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM64C 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				2		2
missense			37	1		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	3	0

Variants in TRIM64C

This is a list of pathogenic ClinVar variants found in the TRIM64C region.

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

Position	Type	Phenotype	Significance	ClinVar
11-49053751-G-T		not specified	Uncertain significance (Sep 29, 2023)
11-49053767-G-T		not specified	Uncertain significance (Jun 29, 2023)
11-49053787-G-T		not specified	Uncertain significance (Mar 04, 2024)
11-49053791-C-T		not specified	Uncertain significance (Dec 16, 2023)
11-49053805-A-G		not specified	Uncertain significance (Jun 18, 2024)
11-49053826-T-C		not specified	Uncertain significance (Oct 12, 2022)
11-49053902-G-A		not specified	Uncertain significance (Jun 06, 2023)
11-49053915-G-T		not specified	Uncertain significance (Apr 29, 2024)
11-49053932-T-C		not specified	Uncertain significance (Jul 14, 2021)
11-49053991-C-T		not specified	Uncertain significance (Dec 20, 2022)
11-49054012-T-C		not specified	Uncertain significance (Mar 01, 2023)
11-49054048-T-C		not specified	Likely benign (May 25, 2022)
11-49054079-C-G		not specified	Uncertain significance (Dec 21, 2023)
11-49054105-T-A		not specified	Uncertain significance (Nov 17, 2022)
11-49054117-C-T		not specified	Uncertain significance (Oct 26, 2022)
11-49054145-G-A		not specified	Uncertain significance (May 23, 2023)
11-49054157-C-T		not specified	Uncertain significance (Feb 16, 2023)
11-49055317-G-T		not specified	Uncertain significance (Oct 05, 2021)
11-49055331-C-T		not specified	Uncertain significance (Jan 26, 2023)
11-49055371-C-A			Likely benign (Jun 01, 2022)
11-49055406-T-C		not specified	Uncertain significance (Dec 12, 2023)
11-49056365-G-A		not specified	Uncertain significance (Apr 08, 2024)
11-49056374-C-T		not specified	Uncertain significance (Sep 16, 2021)
11-49057195-T-C		not specified	Uncertain significance (Apr 12, 2024)
11-49057212-C-T		not specified	Uncertain significance (Aug 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM64C	protein_coding	protein_coding	ENST00000530230	7	5399

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.07e-11	0.0524	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.764	194	226	0.857	0.0000109	2946
Missense in Polyphen		47	57.632	0.81552		840
Synonymous	-0.701	90	81.9	1.10	0.00000407	808
Loss of Function	0.00410	16	16.0	0.999	8.90e-7	197

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.415

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.0330

Gene Damage Prediction

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

Gene ontology

• Molecular function: zinc ion binding