FCRL1

Fc receptor like 1, the group of CD molecules|Immunoglobulin like domain containing|Fc receptors

Basic information

Region (hg38): 1:157792249-157820120

Links

ENSG00000163534 ∙ NCBI:115350 ∙ OMIM:606508 ∙ HGNC:18509 ∙ Uniprot:Q96LA6 ∙ 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 FCRL1 gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCRL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000052938.5. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			40	3		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCRL1	protein_coding	protein_coding	ENST00000368176	11	25703

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000395	0.954	125628	0	111	125739	0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0643	234	237	0.988	0.0000123	2755
Missense in Polyphen		47	59.224	0.79359		794
Synonymous	-1.17	110	95.5	1.15	0.00000521	867
Loss of Function	1.87	12	21.3	0.563	9.06e-7	264

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000218
Finnish	0.00102	0.00102
European (Non-Finnish)	0.000656	0.000651
Middle Eastern	0.000218	0.000218
South Asian	0.0000653	0.0000653
Other	0.000985	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as an activating coreceptor in B-cells. May function in B-cells activation and differentiation. {ECO:0000269|PubMed:15479727}.

Recessive Scores

• pRec: 0.0890

Intolerance Scores

• loftool: 0.740
• rvis_EVS: 0.64
• rvis_percentile_EVS: 84.1

Haploinsufficiency Scores

• pHI: 0.0790
• hipred: N
• hipred_score: 0.158
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0785

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fcrl1

Gene ontology

• Biological process: B cell activation
• Cellular component: plasma membrane;cell surface;integral component of membrane
• Molecular function: coreceptor activity