TRIB1

tribbles pseudokinase 1

Basic information

Region (hg38): 8:125430358-125438403

Links

ENSG00000173334 ∙ NCBI:10221 ∙ OMIM:609461 ∙ HGNC:16891 ∙ Uniprot:Q96RU8 ∙ 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 TRIB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIB1 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	2
missense			25		1	26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	1	2

Variants in TRIB1

This is a list of pathogenic ClinVar variants found in the TRIB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-125430916-C-T		not specified	Uncertain significance (Sep 26, 2023)
8-125430922-G-A		not specified	Uncertain significance (Oct 13, 2023)
8-125430960-G-T		not specified	Uncertain significance (May 17, 2023)
8-125430966-C-T		not specified	Uncertain significance (Sep 17, 2021)
8-125431026-G-T		not specified	Uncertain significance (Aug 02, 2021)
8-125431086-C-A		not specified	Uncertain significance (Nov 09, 2022)
8-125431086-C-T		not specified	Uncertain significance (Aug 21, 2023)
8-125431108-C-T		not specified	Uncertain significance (Sep 16, 2021)
8-125431131-G-C		not specified	Uncertain significance (Jun 27, 2023)
8-125431147-C-T		not specified	Uncertain significance (Jan 04, 2024)
8-125431155-G-A		not specified	Uncertain significance (Aug 19, 2023)
8-125431213-A-G		not specified	Uncertain significance (Apr 18, 2023)
8-125431237-A-G		not specified	Uncertain significance (Jan 03, 2022)
8-125433476-C-T		not specified	Uncertain significance (Sep 07, 2022)
8-125433477-G-A		not specified	Uncertain significance (Sep 16, 2021)
8-125433488-C-T		not specified	Uncertain significance (May 30, 2023)
8-125433506-C-T		not specified	Uncertain significance (Jun 03, 2022)
8-125433595-C-T			Likely benign (Jul 26, 2018)
8-125436033-A-C		not specified	Uncertain significance (Nov 18, 2023)
8-125436172-C-T		not specified	Uncertain significance (May 11, 2022)
8-125436188-T-C		not specified	Uncertain significance (Sep 29, 2023)
8-125436255-C-T			Benign (Aug 28, 2018)
8-125436286-A-G		not specified	Uncertain significance (Dec 18, 2023)
8-125436341-C-T		not specified	Uncertain significance (Feb 14, 2023)
8-125436343-G-A		not specified	Uncertain significance (Sep 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIB1	protein_coding	protein_coding	ENST00000311922	3	8085

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.833	0.166	125743	0	3	125746	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	119	162	0.733	0.0000100	2367
Missense in Polyphen		19	40.421	0.47005		529
Synonymous	-1.05	81	69.8	1.16	0.00000459	796
Loss of Function	2.68	1	10.3	0.0973	6.26e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adapter protein involved in protein degradation by interacting with COP1 ubiquitin ligase (PubMed:27041596). The COP1-binding motif is masked by autoinhibitory interactions with the protein kinase domain (PubMed:26455797). Serves to alter COP1 substrate specificity by directing the activity of COP1 toward CEBPA (PubMed:27041596). Binds selectively the recognition sequence of CEBPA (PubMed:26455797). Regulates myeloid cell differentiation by altering the expression of CEBPA in a COP1- dependent manner (By similarity). Controls macrophage, eosinophil and neutrophil differentiation via the COP1-binding domain (By similarity). Interacts with MAPK kinases and regulates activation of MAP kinases, but has no kinase activity (PubMed:15299019, PubMed:26455797). {ECO:0000250|UniProtKB:Q8K4K4, ECO:0000269|PubMed:15299019, ECO:0000269|PubMed:26455797, ECO:0000305|PubMed:27041596}.

Recessive Scores

• pRec: 0.166

Haploinsufficiency Scores

• pHI: 0.629
• hipred: N
• hipred_score: 0.429
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.993

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trib1
• Phenotype: immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; liver/biliary system phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: protein phosphorylation;negative regulation of protein kinase activity;JNK cascade;negative regulation of smooth muscle cell migration;negative regulation of lipopolysaccharide-mediated signaling pathway;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;response to lipopolysaccharide;regulation of MAP kinase activity;negative regulation of DNA-binding transcription factor activity;positive regulation of eosinophil differentiation;positive regulation of macrophage differentiation;negative regulation of neutrophil differentiation;negative regulation of smooth muscle cell proliferation
• Cellular component: nucleus;cytoplasm
• Molecular function: protein kinase activity;protein kinase inhibitor activity;protein binding;ATP binding;transcription factor binding;mitogen-activated protein kinase kinase binding;ubiquitin protein ligase binding;ubiquitin-protein transferase regulator activity