TRADD

TNFRSF1A associated via death domain

Basic information

Region (hg38): 16:67154184-67159909

Links

ENSG00000102871 ∙ NCBI:8717 ∙ OMIM:603500 ∙ HGNC:12030 ∙ Uniprot:Q15628 ∙ 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 TRADD gene.

• Inborn genetic diseases (9 variants)
• TRADD-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRADD 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						0
missense			9	1		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	1	0

Variants in TRADD

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

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

Position	Type	Phenotype	Significance	ClinVar
16-67154771-C-T		not specified	Uncertain significance (Dec 21, 2022)
16-67154822-A-G		not specified	Uncertain significance (Mar 23, 2023)
16-67154888-C-G		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)
16-67155131-G-T		TRADD-related disorder	Uncertain significance (Dec 20, 2023)
16-67155213-C-T		not specified	Uncertain significance (Sep 26, 2023)
16-67155227-G-A		not specified	Uncertain significance (Oct 16, 2023)
16-67155287-C-T		not specified	Uncertain significance (Jan 10, 2023)
16-67155391-T-C		not specified	Uncertain significance (Dec 02, 2021)
16-67155435-C-G		not specified	Uncertain significance (May 04, 2022)
16-67155472-C-A		not specified	Likely benign (Oct 12, 2022)
16-67155474-G-A		TRADD-related disorder	Uncertain significance (May 18, 2023)
16-67155495-G-A		not specified	Uncertain significance (Jan 19, 2022)
16-67155510-AGCGCGGC-A		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)
16-67155532-C-G		not specified	Uncertain significance (Oct 05, 2023)
16-67155615-A-G		not specified	Uncertain significance (Sep 22, 2023)
16-67155634-C-G		not specified	Uncertain significance (Nov 18, 2022)
16-67155649-C-T		not specified	Uncertain significance (Mar 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRADD	protein_coding	protein_coding	ENST00000345057	4	6119

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0995	0.894	122577	0	6	122583	0.0000245

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.51	132	191	0.693	0.0000107	1918
Missense in Polyphen		47	84.977	0.55309		855
Synonymous	1.33	80	96.6	0.828	0.00000573	700
Loss of Function	2.37	4	13.3	0.300	5.73e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000211	0.000189
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000725	0.0000655
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The nuclear form acts as a tumor suppressor by preventing ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A by TRIP12: acts by interacting with TRIP12, leading to disrupt interaction between TRIP12 and isoform p19ARF/ARF of CDKN2A (By similarity). Adapter molecule for TNFRSF1A/TNFR1 that specifically associates with the cytoplasmic domain of activated TNFRSF1A/TNFR1 mediating its interaction with FADD. Overexpression of TRADD leads to two major TNF-induced responses, apoptosis and activation of NF-kappa-B. {ECO:0000250}.
• Pathway: Adipocytokine signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Necroptosis - Homo sapiens (human);Tuberculosis - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Apoptosis - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Apoptosis Modulation and Signaling;TNF alpha Signaling Pathway;Nanoparticle triggered regulated necrosis;Apoptosis;EBV LMP1 signaling;Apoptotic Signaling Pathway;RIG-I-like Receptor Signaling;p38 MAPK Signaling Pathway;Signal Transduction;tnfr1 signaling pathway;induction of apoptosis through dr3 and dr4/5 death receptors;hiv-1 nef: negative effector of fas and tnf;tnf/stress related signaling;nf-kb signaling pathway;Regulation of necroptotic cell death;Dimerization of procaspase-8;Regulation by c-FLIP;Ligand-dependent caspase activation;Caspase activation via extrinsic apoptotic signalling pathway;Apoptosis;CASP8 activity is inhibited;Regulated Necrosis;Programmed Cell Death;RIPK1-mediated regulated necrosis;ceramide signaling pathway;TNFR1-induced NFkappaB signaling pathway;TNFR1-induced proapoptotic signaling;TNF signaling;sodd/tnfr1 signaling pathway;Death Receptor Signalling;Regulation of TNFR1 signaling;TNFalpha;TNF;Caspase Cascade in Apoptosis;HIV-1 Nef: Negative effector of Fas and TNF-alpha;TRAIL signaling pathway;TNF receptor signaling pathway ;Ceramide signaling pathway (Consensus)

Recessive Scores

• pRec: 0.376

Haploinsufficiency Scores

• pHI: 0.350
• hipred: Y
• hipred_score: 0.619
• ghis: 0.587

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.682

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tradd
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;signal transduction;I-kappaB kinase/NF-kappaB signaling;extrinsic apoptotic signaling pathway via death domain receptors;regulation of tumor necrosis factor-mediated signaling pathway;positive regulation of cell migration;tumor necrosis factor-mediated signaling pathway;positive regulation of apoptotic process;positive regulation of I-kappaB kinase/NF-kappaB signaling;positive regulation of inflammatory response;positive regulation of NF-kappaB transcription factor activity;protein heterooligomerization;positive regulation of hair follicle development;cellular response to tumor necrosis factor;death-inducing signaling complex assembly;extrinsic apoptotic signaling pathway;positive regulation of NIK/NF-kappaB signaling;regulation of extrinsic apoptotic signaling pathway via death domain receptors;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
• Cellular component: nucleus;cytoplasm;cytosol;cytoskeleton;plasma membrane;death-inducing signaling complex;receptor complex;membrane raft
• Molecular function: tumor necrosis factor receptor binding;protein binding;kinase binding;identical protein binding;protein-containing complex binding;molecular adaptor activity;death domain binding