TRIM64B

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

Basic information

Region (hg38): 11:89870438-89878487

Links

ENSG00000189253 ∙ NCBI:642446 ∙ ∙ HGNC:37147 ∙ Uniprot:A6NI03 ∙ 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 TRIM64B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM64B 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			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	1	0

Variants in TRIM64B

This is a list of pathogenic ClinVar variants found in the TRIM64B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-89870714-A-C		not specified	Uncertain significance (Mar 31, 2022)
11-89870736-T-A		not specified	Uncertain significance (May 23, 2024)
11-89870748-A-G		not specified	Uncertain significance (Jan 24, 2024)
11-89870802-G-A		not specified	Uncertain significance (Jan 19, 2022)
11-89870853-T-C		not specified	Uncertain significance (Aug 17, 2021)
11-89870892-G-A		not specified	Uncertain significance (Aug 04, 2023)
11-89870898-C-T		not specified	Uncertain significance (Oct 24, 2023)
11-89870918-G-T		not specified	Uncertain significance (Aug 29, 2023)
11-89870931-G-T		not specified	Uncertain significance (Dec 21, 2022)
11-89870962-A-G		not specified	Uncertain significance (Oct 12, 2022)
11-89870979-C-T		not specified	Uncertain significance (Feb 12, 2024)
11-89871024-C-T		not specified	Uncertain significance (Apr 20, 2023)
11-89871106-C-A		not specified	Uncertain significance (Nov 15, 2021)
11-89872244-C-A		not specified	Uncertain significance (May 22, 2023)
11-89874063-C-T		not specified	Uncertain significance (Sep 14, 2022)
11-89874176-T-A		not specified	Uncertain significance (Jan 05, 2022)
11-89874200-C-A		not specified	Likely benign (Oct 26, 2021)
11-89874201-G-A		not specified	Uncertain significance (Feb 21, 2024)
11-89874245-A-G		not specified	Uncertain significance (Jun 10, 2022)
11-89874246-T-C		not specified	Uncertain significance (Jun 05, 2024)
11-89874995-T-G		not specified	Uncertain significance (Jul 30, 2023)
11-89875052-C-A		not specified	Uncertain significance (Oct 02, 2023)
11-89875659-T-G		not specified	Uncertain significance (Jan 16, 2024)
11-89875672-C-G		not specified	Uncertain significance (Feb 10, 2022)
11-89875734-T-C		not specified	Uncertain significance (Nov 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM64B	protein_coding	protein_coding	ENST00000329862	6	6736

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000107	0.590	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.34	136	188	0.724	0.00000887	2817
Missense in Polyphen		32	48.756	0.65633		829
Synonymous	2.25	46	69.9	0.658	0.00000372	774
Loss of Function	0.813	9	12.0	0.747	5.07e-7	178

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

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0856

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