TAB1

TGF-beta activated kinase 1 (MAP3K7) binding protein 1

Basic information

Region (hg38): 22:39399778-39437060

Previous symbols: [ "MAP3K7IP1" ]

Links

ENSG00000100324 ∙ NCBI:10454 ∙ OMIM:602615 ∙ HGNC:18157 ∙ Uniprot:Q15750 ∙ 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 TAB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAB1 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
missense			37	1		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding						0
Total	0	0	37	1	1

Variants in TAB1

This is a list of pathogenic ClinVar variants found in the TAB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-39399831-A-G		not specified	Uncertain significance (Dec 06, 2022)
22-39415057-G-A		not specified	Uncertain significance (Nov 12, 2021)
22-39415611-T-A		not specified	Uncertain significance (Nov 10, 2022)
22-39415621-G-A		not specified	Likely benign (Mar 25, 2024)
22-39415622-C-T		not specified	Uncertain significance (Jul 09, 2024)
22-39415630-G-A		not specified	Uncertain significance (Dec 05, 2022)
22-39415636-C-G		not specified	Uncertain significance (Feb 13, 2024)
22-39415640-G-A		not specified	Uncertain significance (Jan 04, 2022)
22-39416786-C-T			Benign (Mar 29, 2018)
22-39416867-A-G		not specified	Uncertain significance (Jan 02, 2024)
22-39417742-A-G		not specified	Uncertain significance (Jul 31, 2024)
22-39417754-T-G		not specified	Uncertain significance (Aug 02, 2021)
22-39417762-C-T		not specified	Uncertain significance (Mar 28, 2024)
22-39417811-C-T		not specified	Uncertain significance (Nov 30, 2022)
22-39417817-T-C		not specified	Uncertain significance (Dec 14, 2021)
22-39417837-G-A		not specified	Uncertain significance (Aug 03, 2022)
22-39419524-G-A		not specified	Uncertain significance (Jun 22, 2021)
22-39419564-A-G		not specified	Uncertain significance (Jan 04, 2024)
22-39419578-C-T		not specified	Uncertain significance (Mar 27, 2023)
22-39419612-C-G		not specified	Uncertain significance (Apr 04, 2024)
22-39421827-C-T		not specified	Likely benign (Feb 13, 2024)
22-39421829-C-T		not specified	Uncertain significance (May 23, 2023)
22-39421858-C-T		not specified	Uncertain significance (Dec 10, 2024)
22-39421868-A-G		not specified	Uncertain significance (Mar 24, 2023)
22-39426754-G-A		not specified	Uncertain significance (Mar 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAB1	protein_coding	protein_coding	ENST00000216160	11	37320

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.22e-7	0.934	125714	0	33	125747	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.75	239	328	0.728	0.0000216	3274
Missense in Polyphen		80	137.23	0.58295		1412
Synonymous	0.254	143	147	0.973	0.0000108	1021
Loss of Function	1.81	14	23.5	0.596	0.00000118	259

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000119
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000495	0.000489
Finnish	0.0000932	0.0000924
European (Non-Finnish)	0.000153	0.000149
Middle Eastern	0.000495	0.000489
South Asian	0.00	0.00
Other	0.000169	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be an important signaling intermediate between TGFB receptors and MAP3K7/TAK1. May play an important role in mammalian embryogenesis.
• Pathway: TNF signaling pathway - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);EGF-Ncore;Regulation of toll-like receptor signaling pathway;MicroRNAs in cardiomyocyte hypertrophy;IL-1 signaling pathway;RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway;TNF alpha Signaling Pathway;Structural Pathway of Interleukin 1 (IL-1);TGF-beta Signaling Pathway;MAPK Signaling Pathway;TLR4 Signaling and Tolerance;Toll-like Receptor Signaling Pathway;TLR NFkB;Toll Like Receptor 7/8 (TLR7/8) Cascade;Interleukin-17 signaling;Signal Transduction;Signaling by Interleukins;wnt signaling pathway;signal transduction through il1r;nf-kb signaling pathway;toll-like receptor pathway;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;B cell receptor signaling;Toll-Like Receptors Cascades;NOD1/2 Signaling Pathway;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;Post-translational protein modification;Metabolism of proteins;Interleukin-1 signaling;CLEC7A (Dectin-1) signaling;C-type lectin receptors (CLRs);Fc epsilon receptor (FCERI) signaling;Innate Immune System;Immune System;BMP2 signaling TAK1;IL-1 NFkB;IL-1 p38;IL-1 JNK;IL1;TLR p38;IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;TGF_beta_Receptor;activated TAK1 mediates p38 MAPK activation;TNFR1-induced NFkappaB signaling pathway;BMP receptor signaling;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;tgf beta signaling pathway;TNF signaling;MyD88 dependent cascade initiated on endosome;Ub-specific processing proteases;Noncanonical Wnt signaling pathway;Deubiquitination;Death Receptor Signalling;C-MYB transcription factor network;TGF-beta signaling TAK1;FCERI mediated NF-kB activation;TNFalpha;TLR JNK;TRAF6-mediated induction of TAK1 complex within TLR4 complex;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;IRAK2 mediated activation of TAK1 complex;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;RANKL;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;TNF receptor signaling pathway ;Regulation of p38-alpha and p38-beta;p38 MAPK signaling pathway;IL1-mediated signaling events;Presenilin action in Notch and Wnt signaling;TGF-beta receptor signaling;Interleukin-1 family signaling;CD4 T cell receptor signaling-NFkB cascade;TICAM1,TRAF6-dependent induction of TAK1 complex;CD4 T cell receptor signaling (Consensus)

Recessive Scores

• pRec: 0.303

Intolerance Scores

• loftool: 0.666
• rvis_EVS: -1.22
• rvis_percentile_EVS: 5.64

Haploinsufficiency Scores

• pHI: 0.358
• hipred: Y
• hipred_score: 0.756
• ghis: 0.673

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.322

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tab1
• 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); normal 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); respiratory system phenotype; skeleton phenotype; muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: activation of MAPKKK activity;activation of MAPK activity;in utero embryonic development;stimulatory C-type lectin receptor signaling pathway;MyD88-dependent toll-like receptor signaling pathway;heart morphogenesis;cardiac septum development;protein dephosphorylation;transforming growth factor beta receptor signaling pathway;I-kappaB kinase/NF-kappaB signaling;JNK cascade;protein deubiquitination;lung development;aorta development;Fc-epsilon receptor signaling pathway;positive regulation of NF-kappaB transcription factor activity;coronary vasculature development;nucleotide-binding oligomerization domain containing signaling pathway;interleukin-1-mediated signaling pathway
• Cellular component: nucleus;cytosol;endosome membrane;nuclear speck;protein-containing complex
• Molecular function: protein serine/threonine phosphatase activity;magnesium-dependent protein serine/threonine phosphatase activity;protein binding;enzyme activator activity;kinase activator activity;protein kinase activator activity;protein-containing complex binding;mitogen-activated protein kinase p38 binding