TRIM67

tripartite motif containing 67, the group of Tripartite motif family|Ring finger proteins|Fibronectin type III domain containing

Basic information

Region (hg38): 1:231162058-231221565

Links

ENSG00000119283 ∙ NCBI:440730 ∙ OMIM:610584 ∙ HGNC:31859 ∙ Uniprot:Q6ZTA4 ∙ 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 TRIM67 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM67 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			40			40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	0	0

Variants in TRIM67

This is a list of pathogenic ClinVar variants found in the TRIM67 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-231163001-G-C		not specified	Uncertain significance (Jul 19, 2022)
1-231163105-C-T		not specified	Uncertain significance (Jun 16, 2024)
1-231163130-G-A		not specified	Uncertain significance (Jun 23, 2023)
1-231163148-G-T		not specified	Uncertain significance (Oct 04, 2022)
1-231163150-G-A		not specified	Uncertain significance (Mar 01, 2024)
1-231163241-G-T		not specified	Uncertain significance (Dec 27, 2023)
1-231163360-G-A		not specified	Uncertain significance (Feb 05, 2024)
1-231163387-G-A		not specified	Uncertain significance (Sep 01, 2021)
1-231163396-C-T		not specified	Uncertain significance (Jul 12, 2022)
1-231163466-C-T		not specified	Uncertain significance (Oct 05, 2023)
1-231163501-C-A		not specified	Uncertain significance (Jul 15, 2021)
1-231163502-G-T		not specified	Uncertain significance (Apr 25, 2023)
1-231163559-C-G		not specified	Uncertain significance (Dec 12, 2023)
1-231163559-C-T		not specified	Uncertain significance (Jul 17, 2023)
1-231163574-C-A		not specified	Uncertain significance (Dec 22, 2023)
1-231163717-C-A		not specified	Uncertain significance (Jul 08, 2022)
1-231163726-C-T		not specified	Uncertain significance (Aug 17, 2022)
1-231163789-G-T		not specified	Uncertain significance (Oct 03, 2022)
1-231163856-C-A		not specified	Uncertain significance (Feb 17, 2024)
1-231163891-A-G		not specified	Uncertain significance (Apr 27, 2024)
1-231163896-G-C		not specified	Uncertain significance (Jul 12, 2023)
1-231163898-A-G		not specified	Uncertain significance (Jan 26, 2023)
1-231163912-T-C		not specified	Uncertain significance (Jun 22, 2024)
1-231163928-C-T		not specified	Uncertain significance (Dec 19, 2023)
1-231163975-G-C		not specified	Uncertain significance (Jan 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM67	protein_coding	protein_coding	ENST00000366653	10	59445

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.965	0.0346	124660	0	12	124672	0.0000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.74	325	426	0.763	0.0000262	4991
Missense in Polyphen		124	202.03	0.61378		2258
Synonymous	-0.237	199	195	1.02	0.0000135	1623
Loss of Function	4.21	4	28.1	0.142	0.00000132	336

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000118	0.0000935
Ashkenazi Jewish	0.000101	0.0000994
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000357	0.0000354
Middle Eastern	0.00	0.00
South Asian	0.000133	0.000131
Other	0.000167	0.000165

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.143

Haploinsufficiency Scores

• pHI: 0.219
• hipred: Y
• hipred_score: 0.809
• ghis: 0.619

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.684

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim67

Gene ontology

• Biological process: positive regulation of neuron projection development;negative regulation of Ras protein signal transduction;regulation of cellular protein localization;positive regulation of ubiquitin-dependent protein catabolic process
• Cellular component: cytoplasm;cytoskeleton
• Molecular function: zinc ion binding