BTNL8

butyrophilin like 8, the group of V-set domain containing|Butyrophilins

Basic information

Region (hg38): 5:180899076-180950906

Links

ENSG00000113303 ∙ NCBI:79908 ∙ OMIM:615606 ∙ HGNC:26131 ∙ Uniprot:Q6UX41 ∙ 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 BTNL8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTNL8 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			28	2		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	2	0

Variants in BTNL8

This is a list of pathogenic ClinVar variants found in the BTNL8 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-180908684-G-C		not specified	Uncertain significance (Jul 26, 2022)
5-180908705-A-G		not specified	Uncertain significance (Apr 17, 2024)
5-180908715-T-C		not specified	Uncertain significance (Dec 05, 2022)
5-180908771-C-T		not specified	Uncertain significance (Aug 20, 2023)
5-180908814-C-T		not specified	Uncertain significance (Jan 17, 2023)
5-180908822-C-T		not specified	Uncertain significance (Jul 19, 2023)
5-180911425-C-G		not specified	Uncertain significance (May 03, 2023)
5-180911461-G-C		not specified	Uncertain significance (May 23, 2023)
5-180911477-C-T		not specified	Uncertain significance (Oct 12, 2021)
5-180911495-T-G		not specified	Uncertain significance (Aug 11, 2022)
5-180911506-T-G		not specified	Uncertain significance (Mar 24, 2023)
5-180911545-G-C		not specified	Uncertain significance (May 09, 2023)
5-180911567-G-A		not specified	Likely benign (May 31, 2023)
5-180911602-G-A		not specified	Uncertain significance (Apr 08, 2022)
5-180947526-C-T		not specified	Uncertain significance (Jan 04, 2022)
5-180947530-T-C		not specified	Uncertain significance (Jul 19, 2023)
5-180947566-T-G		not specified	Uncertain significance (Aug 02, 2022)
5-180948368-G-A			Likely benign (Jan 01, 2023)
5-180949928-C-T		not specified	Uncertain significance (Jun 16, 2023)
5-180950044-A-G		not specified	Uncertain significance (Jul 13, 2021)
5-180950080-G-A		not specified	Uncertain significance (Jan 23, 2023)
5-180950104-G-A		not specified	Uncertain significance (Jul 20, 2022)
5-180950146-G-A		not specified	Uncertain significance (Jul 20, 2022)
5-180950189-A-G		not specified	Uncertain significance (Jul 20, 2022)
5-180950273-T-A		not specified	Uncertain significance (May 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTNL8	protein_coding	protein_coding	ENST00000340184	8	51830

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000145	0.864	125638	16	94	125748	0.000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0922	284	280	1.02	0.0000160	3256
Missense in Polyphen		72	67.553	1.0658		892
Synonymous	0.606	105	113	0.928	0.00000699	980
Loss of Function	1.44	10	16.2	0.616	7.85e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00434	0.00434
Ashkenazi Jewish	0.00103	0.000595
East Asian	0.0000577	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000246	0.000211
Middle Eastern	0.0000577	0.0000544
South Asian	0.000299	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May stimulate primary immune response. Acts on T-cell stimulated sub-optimally through the TCR/CD3 complex stimulating their proliferation and cytokine production. {ECO:0000269|PubMed:24036152}.
• Pathway: Butyrophilin (BTN) family interactions;Immune System;Adaptive Immune System (Consensus)

Intolerance Scores

• loftool: 0.941
• rvis_EVS: 2.51
• rvis_percentile_EVS: 98.67

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.132
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00316

Gene Damage Prediction

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

Gene ontology

• Biological process: adaptive immune response;regulation of immune response;T cell receptor signaling pathway
• Cellular component: plasma membrane;external side of plasma membrane;integral component of membrane
• Molecular function: signaling receptor binding;protein binding