TIGIT

T cell immunoreceptor with Ig and ITIM domains, the group of V-set domain containing

Basic information

Region (hg38): 3:114276912-114310288

Previous symbols: [ "VSIG9", "VSTM3" ]

Links

ENSG00000181847 ∙ NCBI:201633 ∙ OMIM:612859 ∙ HGNC:26838 ∙ Uniprot:Q495A1 ∙ 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 TIGIT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIGIT 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			14	5		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	5	0

Variants in TIGIT

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

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

Position	Type	Phenotype	Significance	ClinVar
3-114294065-C-T		not specified	Uncertain significance (Feb 10, 2022)
3-114294066-G-A		not specified	Uncertain significance (Mar 27, 2024)
3-114294102-G-A		not specified	Uncertain significance (Oct 20, 2021)
3-114294116-G-A		not specified	Likely benign (Mar 24, 2023)
3-114295572-C-T		not specified	Likely benign (Jul 13, 2021)
3-114295582-T-G		not specified	Uncertain significance (Aug 02, 2021)
3-114295589-G-A		not specified	Likely benign (Aug 17, 2021)
3-114295728-A-T		not specified	Uncertain significance (Mar 02, 2023)
3-114295787-G-A		not specified	Uncertain significance (Sep 27, 2021)
3-114295816-C-G		not specified	Uncertain significance (Mar 20, 2023)
3-114295833-C-T		not specified	Uncertain significance (Jan 10, 2023)
3-114299597-T-A		not specified	Uncertain significance (Sep 16, 2021)
3-114299608-G-A		not specified	Likely benign (Feb 10, 2022)
3-114299639-C-T		not specified	Uncertain significance (Aug 02, 2022)
3-114299647-G-A		not specified	Likely benign (Jan 24, 2023)
3-114299651-C-A		not specified	Uncertain significance (Mar 25, 2024)
3-114307926-G-A		not specified	Uncertain significance (Dec 13, 2023)
3-114307965-G-A		not specified	Uncertain significance (Nov 13, 2023)
3-114308007-A-T		not specified	Uncertain significance (Jan 03, 2024)
3-114308076-A-G		not specified	Uncertain significance (Aug 02, 2021)
3-114308127-G-A		not specified	Uncertain significance (Nov 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIGIT	protein_coding	protein_coding	ENST00000486257	4	33376

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0179	0.902	125691	0	15	125706	0.0000597

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0420	143	142	1.01	0.00000781	1560
Missense in Polyphen		32	32.354	0.98905		413
Synonymous	0.613	56	62.2	0.901	0.00000393	507
Loss of Function	1.48	4	8.71	0.459	4.39e-7	87

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000867	0.0000867
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.000109	0.000109
South Asian	0.000263	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds with high affinity to the poliovirus receptor (PVR) which causes increased secretion of IL10 and decreased secretion of IL12B and suppresses T-cell activation by promoting the generation of mature immunoregulatory dendritic cells. {ECO:0000269|PubMed:19011627}.
• Pathway: Cell adhesion molecules (CAMs) - Homo sapiens (human) (Consensus)

Intolerance Scores

• loftool: 0.415
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.69

Haploinsufficiency Scores

• pHI: 0.0792
• hipred: N
• hipred_score: 0.123
• ghis: 0.455

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.180

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tigit
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: negative regulation of interleukin-12 production;positive regulation of interleukin-10 production;negative regulation of T cell activation
• Cellular component: plasma membrane;cell surface;integral component of membrane
• Molecular function: signaling receptor binding;protein binding;identical protein binding