FCRL4

Fc receptor like 4, the group of CD molecules|Immunoglobulin like domain containing|Fc receptors

Basic information

Region (hg38): 1:157573747-157598085

Links

ENSG00000163518NCBI:83417OMIM:605876HGNC:18507Uniprot:Q96PJ5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FCRL4 gene.

  • not_specified (74 variants)
  • not_provided (3 variants)
  • Non-immune_hydrops_fetalis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCRL4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031282.3. 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
66
clinvar
7
clinvar
2
clinvar
75
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 67 7 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FCRL4protein_codingprotein_codingENST00000271532 1224332
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
7.91e-100.8901256730731257460.000290
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.5773022751.100.00001443281
Missense in Polyphen6777.5810.863611011
Synonymous0.3991061110.9520.000006051046
Loss of Function1.811929.60.6420.00000161314

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001040.00104
Ashkenazi Jewish0.0001010.0000992
East Asian0.0002720.000272
Finnish0.000.00
European (Non-Finnish)0.0003190.000316
Middle Eastern0.0002720.000272
South Asian0.0001310.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May function as an inhibitor of the B-cell receptor signaling. May function in the B-cell-mediated immune response. {ECO:0000269|PubMed:14597715}.;
Disease
DISEASE: Note=A chromosomal aberration involving FCRL4 is found in non-Hodgkin lymphoma (NHG). Translocation t(1;1)(p36.3; q21.1-2). {ECO:0000269|PubMed:12619161}.; DISEASE: Note=A chromosomal aberration involving FCRL4 is found in multiple myeloma (MM). Translocation t(1;14)(q21;q32) that forms a FCRL4-IGHA1 fusion protein. {ECO:0000269|PubMed:11290337}.;

Recessive Scores

pRec
0.0856

Intolerance Scores

loftool
0.835
rvis_EVS
0.51
rvis_percentile_EVS
80.3

Haploinsufficiency Scores

pHI
0.0493
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0365

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
adaptive immune response
Cellular component
plasma membrane;cell surface;integral component of membrane
Molecular function
protein binding