TNFAIP8L1

TNF alpha induced protein 8 like 1

Basic information

Region (hg38): 19:4639515-4655568

Links

ENSG00000185361 ∙ NCBI:126282 ∙ OMIM:615869 ∙ HGNC:28279 ∙ Uniprot:Q8WVP5 ∙ 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 TNFAIP8L1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TNFAIP8L1 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in TNFAIP8L1

This is a list of pathogenic ClinVar variants found in the TNFAIP8L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-4652026-C-T		not specified	Uncertain significance (Sep 01, 2021)
19-4652110-G-A		not specified	Uncertain significance (Dec 07, 2023)
19-4652141-G-A		not specified	Uncertain significance (Apr 15, 2024)
19-4652203-G-C		not specified	Uncertain significance (Sep 17, 2021)
19-4652224-G-A		not specified	Uncertain significance (Dec 18, 2023)
19-4652311-G-T		not specified	Uncertain significance (May 15, 2024)
19-4652405-G-A		not specified	Uncertain significance (Dec 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TNFAIP8L1	protein_coding	protein_coding	ENST00000536716	1	16051

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.538	0.409	125621	0	5	125626	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.68	76	130	0.585	0.00000950	1173
Missense in Polyphen		25	44.358	0.56359		455
Synonymous	-0.398	63	59.1	1.07	0.00000425	401
Loss of Function	1.40	0	2.28	0.00	9.71e-8	30

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000281	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.000131	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a negative regulator of mTOR activity. {ECO:0000250|UniProtKB:Q8K288}.
• Pathway: Metabolism of lipids;Metabolism;PI Metabolism;Phospholipid metabolism (Consensus)

Recessive Scores

• pRec: 0.374

Haploinsufficiency Scores

• pHI: 0.0570
• hipred: Y
• hipred_score: 0.662
• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tnfaip8l1

Gene ontology

• Biological process: negative regulation of TOR signaling;regulation of apoptotic process
• Cellular component: cytoplasm
• Molecular function: protein binding