BTNL3

butyrophilin like 3, the group of V-set domain containing|Butyrophilins

Basic information

Region (hg38): 5:180988846-181006727

Links

ENSG00000168903NCBI:10917OMIM:606192HGNC:1143Uniprot:Q6UXE8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BTNL3 gene.

  • not_specified (62 variants)
  • not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTNL3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000197975.3. 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
1
clinvar
1
missense
56
clinvar
7
clinvar
2
clinvar
65
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 0 0 56 8 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BTNL3protein_codingprotein_codingENST00000342868 817883
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0005970.9781251473131251630.0000639
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6772292600.8820.00001403011
Missense in Polyphen5668.6080.81624915
Synonymous0.867921030.8910.00000599911
Loss of Function2.03817.00.4707.88e-7193

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004440.000353
Ashkenazi Jewish0.000.00
East Asian0.0002330.000217
Finnish0.000.00
European (Non-Finnish)0.00005100.0000265
Middle Eastern0.0002330.000217
South Asian0.00006810.0000653
Other0.0001900.000164

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0614

Intolerance Scores

loftool
0.784
rvis_EVS
1.29
rvis_percentile_EVS
93.8

Haploinsufficiency Scores

pHI
0.0347
hipred
N
hipred_score
0.301
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.165

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
biological_process;regulation of immune response;T cell receptor signaling pathway
Cellular component
cellular_component;external side of plasma membrane;integral component of membrane
Molecular function
molecular_function;signaling receptor binding