TAB1

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

Basic information

Region (hg38): 22:39399778-39437060

Previous symbols: [ "MAP3K7IP1" ]

Links

ENSG00000100324NCBI:10454OMIM:602615HGNC:18157Uniprot:Q15750AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
missense
37
clinvar
1
clinvar
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)2333380
22-39415057-G-A not specified Uncertain significance (Nov 12, 2021)2260733
22-39415611-T-A not specified Uncertain significance (Nov 10, 2022)2392340
22-39415621-G-A not specified Likely benign (Mar 25, 2024)3324144
22-39415622-C-T not specified Uncertain significance (Jul 09, 2024)3452391
22-39415630-G-A not specified Uncertain significance (Dec 05, 2022)2383687
22-39415636-C-G not specified Uncertain significance (Feb 13, 2024)3173202
22-39415640-G-A not specified Uncertain significance (Jan 04, 2022)2390879
22-39416786-C-T Benign (Mar 29, 2018)715987
22-39416867-A-G not specified Uncertain significance (Jan 02, 2024)3173203
22-39417742-A-G not specified Uncertain significance (Jul 31, 2024)3452392
22-39417754-T-G not specified Uncertain significance (Aug 02, 2021)3173204
22-39417762-C-T not specified Uncertain significance (Mar 28, 2024)3324145
22-39417811-C-T not specified Uncertain significance (Nov 30, 2022)2267674
22-39417817-T-C not specified Uncertain significance (Dec 14, 2021)2266940
22-39417837-G-A not specified Uncertain significance (Aug 03, 2022)3173205
22-39419524-G-A not specified Uncertain significance (Jun 22, 2021)2234257
22-39419564-A-G not specified Uncertain significance (Jan 04, 2024)3173206
22-39419578-C-T not specified Uncertain significance (Mar 27, 2023)2529885
22-39419612-C-G not specified Uncertain significance (Apr 04, 2024)3324142
22-39421827-C-T not specified Likely benign (Feb 13, 2024)3173207
22-39421829-C-T not specified Uncertain significance (May 23, 2023)2517586
22-39421858-C-T not specified Uncertain significance (Dec 10, 2024)3452389
22-39421868-A-G not specified Uncertain significance (Mar 24, 2023)2522936
22-39426754-G-A not specified Uncertain significance (Mar 01, 2024)2363168

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TAB1protein_codingprotein_codingENST00000216160 1137320
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.22e-70.9341257140331257470.000131
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.752393280.7280.00002163274
Missense in Polyphen80137.230.582951412
Synonymous0.2541431470.9730.00001081021
Loss of Function1.811423.50.5960.00000118259

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001200.000119
Ashkenazi Jewish0.0001000.0000992
East Asian0.0004950.000489
Finnish0.00009320.0000924
European (Non-Finnish)0.0001530.000149
Middle Eastern0.0004950.000489
South Asian0.000.00
Other0.0001690.000163

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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