TAX1BP1

Tax1 binding protein 1

Basic information

Region (hg38): 7:27739330-27844564

Links

ENSG00000106052 ∙ NCBI:8887 ∙ OMIM:605326 ∙ HGNC:11575 ∙ Uniprot:Q86VP1 ∙ 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 TAX1BP1 gene.

• Inborn genetic diseases (23 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAX1BP1 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			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding						0
Total	0	0	22	1	2

Variants in TAX1BP1

This is a list of pathogenic ClinVar variants found in the TAX1BP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-27758049-C-T		not specified	Uncertain significance (Dec 07, 2021)
7-27765852-A-G		not specified	Uncertain significance (Dec 28, 2022)
7-27765930-G-A		not specified	Uncertain significance (Aug 16, 2022)
7-27769694-A-G		not specified	Uncertain significance (May 01, 2022)
7-27769788-T-G		not specified	Uncertain significance (Apr 13, 2022)
7-27785245-A-T		not specified	Likely benign (Mar 22, 2023)
7-27785253-G-A		not specified	Uncertain significance (Dec 15, 2023)
7-27785263-T-C		not specified	Uncertain significance (Mar 14, 2023)
7-27785278-A-G		not specified	Uncertain significance (Oct 17, 2023)
7-27785428-A-G		not specified	Uncertain significance (Jan 26, 2022)
7-27787514-C-T		not specified	Uncertain significance (Jul 13, 2021)
7-27787566-A-G		not specified	Uncertain significance (Mar 29, 2023)
7-27787575-G-C		not specified	Uncertain significance (Apr 13, 2022)
7-27792000-C-A			Benign (Oct 09, 2017)
7-27792112-A-C		not specified	Uncertain significance (Apr 12, 2022)
7-27792118-G-T		not specified	Uncertain significance (Oct 27, 2022)
7-27792153-T-G		not specified	Uncertain significance (Nov 13, 2023)
7-27792168-G-T		not specified	Uncertain significance (May 22, 2023)
7-27794316-T-G			Benign (Jul 16, 2018)
7-27794354-C-T		not specified	Likely benign (Feb 22, 2023)
7-27794423-A-G		not specified	Uncertain significance (Nov 22, 2021)
7-27796133-A-G		not specified	Uncertain significance (Jan 23, 2023)
7-27799984-A-G		not specified	Uncertain significance (Sep 21, 2023)
7-27800067-G-A		not specified	Uncertain significance (Mar 02, 2023)
7-27800078-G-C		not specified	Uncertain significance (Jul 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAX1BP1	protein_coding	protein_coding	ENST00000396319	16	105234

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.21e-7	1.00	125678	0	70	125748	0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.26	329	400	0.823	0.0000195	5270
Missense in Polyphen		88	130.39	0.6749		1804
Synonymous	-0.925	151	137	1.10	0.00000681	1368
Loss of Function	3.36	19	42.7	0.445	0.00000211	549

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000897	0.000878
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000109	0.000109
Finnish	0.000970	0.000971
European (Non-Finnish)	0.000180	0.000176
Middle Eastern	0.000109	0.000109
South Asian	0.000215	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degraded by caspase-3-like family proteins upon TNF-induced apoptosis. May also play a role in the pro-inflammatory cytokine IL-1 signaling cascade. {ECO:0000269|PubMed:10435631, ECO:0000269|PubMed:10920205}.
• Pathway: Mitophagy - animal - Homo sapiens (human);Signal Transduction;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Innate Immune System;Immune System;TNF signaling;Negative regulators of DDX58/IFIH1 signaling;Death Receptor Signalling;Regulation of TNFR1 signaling;TNFalpha (Consensus)

Recessive Scores

• pRec: 0.154

Intolerance Scores

• loftool: 0.925
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.16

Haploinsufficiency Scores

• pHI: 0.484
• hipred: Y
• hipred_score: 0.590
• ghis: 0.559

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.270

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tax1bp1
• 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; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); immune system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype

Gene ontology

• Biological process: apoptotic process;regulation of tumor necrosis factor-mediated signaling pathway;negative regulation of NF-kappaB transcription factor activity;negative regulation of type I interferon production;negative regulation of apoptotic process
• Cellular component: cytosol;extracellular exosome
• Molecular function: protein binding;kinase binding;metal ion binding