GeneBe

TNFRSF10A

TNF receptor superfamily member 10a, the group of CD molecules|Tumor necrosis factor receptor superfamily

Basic information

Region (hg38): 8:23190452-23225102

Links

ENSG00000104689 ∙ NCBI:8797 ∙ OMIM:603611 ∙ HGNC:11904 ∙ Uniprot:O00220 ∙ 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 TNFRSF10A gene.

  • not_specified (85 variants)
  • not_provided (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TNFRSF10A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003844.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
4
clinvar
4
clinvar
 8
missense
79
clinvar
7
clinvar
2
clinvar
 88
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 79 11 6
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TNFRSF10Aprotein_codingprotein_codingENST00000221132 1034675
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
5.07e-150.0070812558001681257480.000668
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6452912621.110.00001392984
Missense in Polyphen5144.8851.1362560
Synonymous-1.061201061.130.00000606954
Loss of Function-0.3422119.41.089.32e-7223

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005780.0000578
Ashkenazi Jewish0.00009920.0000992
East Asian0.0003260.000326
Finnish0.0006010.000601
European (Non-Finnish)0.001250.00125
Middle Eastern0.0003260.000326
South Asian0.000.00
Other0.0006530.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor for the cytotoxic ligand TNFSF10/TRAIL (PubMed:26457518). The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. {ECO:0000269|PubMed:26457518, ECO:0000269|PubMed:9430227}.;
Pathway
Influenza A - Homo sapiens (human);Necroptosis - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Measles - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Apoptosis Modulation and Signaling;miR-targeted genes in lymphocytes - TarBase;TP53 Regulates Transcription of Cell Death Genes;Signal Transduction;Gene expression (Transcription);induction of apoptosis through dr3 and dr4/5 death receptors;Generic Transcription Pathway;TP53 Regulates Transcription of Cell Death Genes;Regulation of necroptotic cell death;Dimerization of procaspase-8;Regulation by c-FLIP;Ligand-dependent caspase activation;RNA Polymerase II Transcription;Caspase activation via extrinsic apoptotic signalling pathway;Apoptosis;CASP8 activity is inhibited;Regulated Necrosis;Programmed Cell Death;RIPK1-mediated regulated necrosis;TRAIL signaling;Cell surface interactions at the vascular wall;Hemostasis;Death Receptor Signalling;Transcriptional Regulation by TP53;Direct p53 effectors;Caspase Cascade in Apoptosis;TRAIL signaling pathway;TP53 Regulates Transcription of Death Receptors and Ligands (Consensus)

Recessive Scores

pRec
0.0662

Intolerance Scores

loftool
0.280
rvis_EVS
0.51
rvis_percentile_EVS
80.3

Haploinsufficiency Scores

pHI
0.101
hipred
N
hipred_score
0.402
ghis
0.423

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0357

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tnfrsf10b
Phenotype
cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland 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; neoplasm;

Gene ontology

Biological process
apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;signal transduction;cell surface receptor signaling pathway;activation of NF-kappaB-inducing kinase activity;extrinsic apoptotic signaling pathway via death domain receptors;TRAIL-activated apoptotic signaling pathway;regulation of apoptotic process;positive regulation of apoptotic process;leukocyte migration;cellular response to mechanical stimulus;extrinsic apoptotic signaling pathway;regulation of extrinsic apoptotic signaling pathway via death domain receptors;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
Cellular component
plasma membrane;cell surface;integral component of membrane
Molecular function
protease binding;death receptor activity;protein binding;transcription factor binding;signaling receptor activity;TRAIL binding