TRIM68

tripartite motif containing 68, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 11:4598672-4608231

Previous symbols: [ "RNF137" ]

Links

ENSG00000167333 ∙ NCBI:55128 ∙ OMIM:613184 ∙ HGNC:21161 ∙ Uniprot:Q6AZZ1 ∙ 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 TRIM68 gene.

• not_specified (87 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM68 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018073.8. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			81	6		87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM68	protein_coding	protein_coding	ENST00000300747	6	9588

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.07e-19	0.00210	125559	0	189	125748	0.000752

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.215	288	278	1.04	0.0000160	3170
Missense in Polyphen		85	85.354	0.99586		1037
Synonymous	-0.367	108	103	1.05	0.00000524	942
Loss of Function	-0.237	27	25.7	1.05	0.00000153	262

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00273	0.00273
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000414	0.000413
Middle Eastern	0.000272	0.000272
South Asian	0.00144	0.00144
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity. {ECO:0000269|PubMed:18451177}.
• Pathway: Cytokine Signaling in Immune system;Immune System;AndrogenReceptor;Interferon gamma signaling;Interferon Signaling (Consensus)

Intolerance Scores

• loftool: 0.637
• rvis_EVS: -1.11
• rvis_percentile_EVS: 6.78

Haploinsufficiency Scores

• pHI: 0.149
• hipred: N
• hipred_score: 0.449
• ghis: 0.608

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.667

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim68

Gene ontology

• Biological process: protein autoubiquitination;interferon-gamma-mediated signaling pathway;regulation of androgen receptor signaling pathway
• Cellular component: nucleus;nucleolus;cytoplasm;Golgi apparatus;cytosol;perinuclear region of cytoplasm
• Molecular function: ubiquitin-protein transferase activity;zinc ion binding;histone acetyltransferase binding;androgen receptor binding