TNFRSF8

TNF receptor superfamily member 8, the group of CD molecules|Tumor necrosis factor receptor superfamily

Basic information

Region (hg38): 1:12063302-12144207

Previous symbols: [ "CD30", "D1S166E" ]

Links

ENSG00000120949 ∙ NCBI:943 ∙ OMIM:153243 ∙ HGNC:11923 ∙ Uniprot:P28908 ∙ 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 TNFRSF8 gene.

• Inborn genetic diseases (24 variants)
• not provided (9 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TNFRSF8 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	5	6
missense			22	3	1	26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	22	4	6

Variants in TNFRSF8

This is a list of pathogenic ClinVar variants found in the TNFRSF8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-12097184-G-A		not specified	Uncertain significance (Jul 20, 2022)
1-12104381-G-T		Malignant tumor of prostate	Uncertain significance (-)
1-12104437-A-G			Benign (Oct 25, 2017)
1-12104465-G-T		not specified	Uncertain significance (Dec 22, 2023)
1-12109602-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-12109632-C-T		not specified	Uncertain significance (Aug 02, 2021)
1-12110070-C-T		not specified	Likely benign (Nov 06, 2023)
1-12110163-C-T		not specified	Uncertain significance (Sep 17, 2021)
1-12111907-C-G		not specified	Uncertain significance (Jun 29, 2023)
1-12111974-C-A		not specified	Uncertain significance (Dec 20, 2023)
1-12111975-G-A		not specified	Uncertain significance (Jul 06, 2021)
1-12111985-G-A		not specified	Uncertain significance (Aug 13, 2021)
1-12111991-C-T		not specified	Uncertain significance (Nov 29, 2023)
1-12111992-G-A			Benign (Aug 03, 2017)
1-12111999-G-A		not specified	Uncertain significance (Oct 04, 2022)
1-12115592-A-C		not specified	Uncertain significance (Dec 14, 2023)
1-12115595-C-T		not specified	Uncertain significance (Dec 13, 2021)
1-12115596-G-A			Benign (Jun 30, 2017)
1-12115618-C-T		not specified	Uncertain significance (Mar 20, 2023)
1-12115627-G-A		not specified	Uncertain significance (Jul 06, 2021)
1-12115634-G-A		not specified	Uncertain significance (Jul 14, 2021)
1-12115637-C-T		not specified	Uncertain significance (May 26, 2023)
1-12115647-C-G		not specified	Uncertain significance (Nov 29, 2021)
1-12115663-A-G		not specified	Uncertain significance (Jan 24, 2023)
1-12115679-G-A		not specified	Uncertain significance (Aug 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TNFRSF8	protein_coding	protein_coding	ENST00000263932	15	80831

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.864	0.136	125739	0	8	125747	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.941	320	371	0.863	0.0000233	3795
Missense in Polyphen		80	106.88	0.74848		1147
Synonymous	0.299	162	167	0.971	0.0000122	1239
Loss of Function	4.35	6	33.0	0.182	0.00000191	341

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000907	0.0000907
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for TNFSF8/CD30L. May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF- kappa-B.
• Pathway: Cytokine-cytokine receptor interaction - Homo sapiens (human);TNFR2 non-canonical NF-kB pathway;Cytokine Signaling in Immune system;Immune System;TNFs bind their physiological receptors;TNFalpha (Consensus)

Recessive Scores

• pRec: 0.295

Intolerance Scores

• loftool: 0.237
• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.24

Haploinsufficiency Scores

• pHI: 0.335
• hipred: Y
• hipred_score: 0.542
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.895

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tnfrsf8
• Phenotype: endocrine/exocrine gland phenotype; immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: signal transduction;negative regulation of cell population proliferation;tumor necrosis factor-mediated signaling pathway;positive regulation of tumor necrosis factor biosynthetic process;positive regulation of apoptotic process;positive regulation of TRAIL biosynthetic process;positive regulation of NF-kappaB transcription factor activity;cellular response to mechanical stimulus
• Cellular component: cytoplasm;plasma membrane;integral component of membrane;extracellular exosome
• Molecular function: transmembrane signaling receptor activity