FCRL6

Fc receptor like 6, the group of Immunoglobulin like domain containing|Fc receptors

Basic information

Region (hg38): 1:159800510-159816257

Links

ENSG00000181036 ∙ NCBI:343413 ∙ OMIM:613562 ∙ HGNC:31910 ∙ Uniprot:Q6DN72 ∙ 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 FCRL6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCRL6 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				1	2	3
missense			30	2	2	34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	30	4	4

Variants in FCRL6

This is a list of pathogenic ClinVar variants found in the FCRL6 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-159808259-C-T		not specified	Uncertain significance (Jun 10, 2024)
1-159808267-T-C		not specified	Uncertain significance (Oct 24, 2023)
1-159808342-G-C		not specified	Uncertain significance (May 27, 2022)
1-159808346-C-T		not specified	Uncertain significance (Nov 09, 2023)
1-159808348-G-A		not specified	Uncertain significance (Jun 28, 2023)
1-159808358-G-A			Benign (May 30, 2018)
1-159808372-T-G		not specified	Uncertain significance (Dec 15, 2022)
1-159808375-T-A		not specified	Likely benign (Jun 28, 2023)
1-159808964-T-A		not specified	Uncertain significance (Aug 13, 2021)
1-159809032-A-G		not specified	Uncertain significance (Aug 01, 2022)
1-159809115-C-T			Benign (May 30, 2018)
1-159809117-G-A		not specified	Uncertain significance (May 17, 2023)
1-159809141-T-G		not specified	Uncertain significance (Apr 11, 2023)
1-159809145-G-A			Likely benign (May 31, 2018)
1-159809167-G-T		not specified	Uncertain significance (Jun 21, 2022)
1-159809185-G-A		not specified	Uncertain significance (Jul 08, 2022)
1-159809254-G-A			Likely benign (Jul 10, 2018)
1-159809414-G-A		not specified	Uncertain significance (May 18, 2023)
1-159809429-T-C		not specified	Uncertain significance (May 24, 2023)
1-159809437-G-A		not specified	Uncertain significance (Jan 12, 2024)
1-159809437-G-T		not specified	Uncertain significance (Dec 06, 2022)
1-159809459-G-A		not specified	Uncertain significance (Mar 01, 2024)
1-159809465-T-C		not specified	Uncertain significance (Dec 12, 2023)
1-159809498-C-T		not specified	Uncertain significance (Apr 13, 2023)
1-159809581-C-A		not specified	Uncertain significance (Jan 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCRL6	protein_coding	protein_coding	ENST00000368106	10	15741

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.78e-23	0.0000351	125702	0	45	125747	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.55	299	232	1.29	0.0000112	2784
Missense in Polyphen		64	52.893	1.21		723
Synonymous	-2.44	124	94.0	1.32	0.00000500	892
Loss of Function	-1.49	30	22.4	1.34	0.00000104	245

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000117	0.000117
Ashkenazi Jewish	0.00	0.00
East Asian	0.000716	0.000707
Finnish	0.00	0.00
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.000716	0.000707
South Asian	0.0000998	0.0000980
Other	0.000659	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a MHC class II receptor (PubMed:20519654). When stimulated on its own, does not play a role in cytokine production or the release of cytotoxic granules by NK cells and cytotoxic CD8(+) T cells (PubMed:17213291, PubMed:18991291). Does not act as an Fc receptor (PubMed:18991291). {ECO:0000269|PubMed:17213291, ECO:0000269|PubMed:18991291, ECO:0000269|PubMed:20519654}.

Recessive Scores

• pRec: 0.0735

Intolerance Scores

• loftool: 0.957
• rvis_EVS: 0.27
• rvis_percentile_EVS: 70.69

Haploinsufficiency Scores

• pHI: 0.0493
• hipred: N
• hipred_score: 0.112
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0508

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fcrl6

Gene ontology

• Cellular component: plasma membrane;external side of plasma membrane;integral component of membrane
• Molecular function: protein binding;phosphatase binding;protein phosphatase binding;MHC class II protein binding