FCRLB

Fc receptor like B, the group of Fc receptors|Immunoglobulin like domain containing

Basic information

Region (hg38): 1:161721544-161728143

Previous symbols: [ "FCRLM2" ]

Links

ENSG00000162746 ∙ NCBI:127943 ∙ OMIM:609251 ∙ HGNC:26431 ∙ Uniprot:Q6BAA4 ∙ 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 FCRLB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCRLB 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			23	1		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	1	0

Variants in FCRLB

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

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

Position	Type	Phenotype	Significance	ClinVar
1-161723405-T-G		not specified	Uncertain significance (May 30, 2023)
1-161723525-C-A		not specified	Uncertain significance (Jan 16, 2024)
1-161723536-C-A		not specified	Uncertain significance (Jul 19, 2023)
1-161723538-T-C		not specified	Uncertain significance (May 31, 2024)
1-161723580-G-A		not specified	Uncertain significance (May 06, 2024)
1-161725887-G-A		not specified	Uncertain significance (Dec 26, 2023)
1-161725917-T-C		not specified	Uncertain significance (May 31, 2023)
1-161725946-C-A		not specified	Uncertain significance (Mar 18, 2024)
1-161726774-G-A		not specified	Uncertain significance (Nov 10, 2022)
1-161726798-C-T		not specified	Uncertain significance (Nov 04, 2023)
1-161726801-C-T		not specified	Uncertain significance (Jul 27, 2022)
1-161726807-A-G		not specified	Uncertain significance (Nov 12, 2021)
1-161726828-T-A		not specified	Uncertain significance (Nov 23, 2021)
1-161726831-G-T		not specified	Uncertain significance (Apr 25, 2022)
1-161726843-T-C		not specified	Uncertain significance (Mar 04, 2024)
1-161726880-A-G		not specified	Uncertain significance (Dec 06, 2022)
1-161726991-C-A		not specified	Uncertain significance (May 11, 2022)
1-161727256-T-C		not specified	Uncertain significance (Aug 17, 2022)
1-161727304-C-T		not specified	Uncertain significance (Jun 06, 2023)
1-161727325-C-T		not specified	Likely benign (May 13, 2022)
1-161727382-C-G		not specified	Uncertain significance (Jan 10, 2023)
1-161727405-C-G		not specified	Uncertain significance (Dec 09, 2023)
1-161727445-C-A		not specified	Uncertain significance (Dec 14, 2023)
1-161727499-T-C		not specified	Uncertain significance (Mar 20, 2024)
1-161727591-A-C		not specified	Uncertain significance (Feb 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCRLB	protein_coding	protein_coding	ENST00000367948	6	6581

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.51e-10	0.0785	124609	27	1112	125748	0.00454

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.520	217	240	0.905	0.0000113	2648
Missense in Polyphen		76	75.864	1.0018		883
Synonymous	-0.0969	108	107	1.01	0.00000502	944
Loss of Function	0.0919	15	15.4	0.975	7.27e-7	167

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000455	0.000452
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.0000881	0.0000879
Middle Eastern	0.000381	0.000381
South Asian	0.0370	0.0367
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.431
• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.65

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.272
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Mouse Genome Informatics

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

Gene ontology

• Biological process: negative regulation of immune response
• Cellular component: cytoplasm;endoplasmic reticulum