FCRLA

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

Basic information

Region (hg38): 1:161706972-161714352

Previous symbols: [ "FCRLM1" ]

Links

ENSG00000132185 ∙ NCBI:84824 ∙ OMIM:606891 ∙ HGNC:18504 ∙ Uniprot:Q7L513 ∙ 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 FCRLA gene.

• not_specified (53 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCRLA gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032738.4. 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			48	4	3	55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	4	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCRLA	protein_coding	protein_coding	ENST00000367959	6	7381

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.44e-9	0.151	125679	0	51	125730	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.366	223	208	1.07	0.0000102	2455
Missense in Polyphen		74	67.078	1.1032		850
Synonymous	-0.793	92	82.8	1.11	0.00000431	802
Loss of Function	0.313	14	15.3	0.914	7.40e-7	164

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000359	0.000359
Ashkenazi Jewish	0.000307	0.000298
East Asian	0.000326	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000239	0.000237
Middle Eastern	0.000326	0.000326
South Asian	0.000197	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be implicated in B-cell differentiation and lymphomagenesis. {ECO:0000269|PubMed:11754007, ECO:0000269|PubMed:11891275}.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.906
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.46

Haploinsufficiency Scores

• pHI: 0.100
• hipred: N
• hipred_score: 0.112
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.238

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fcrla
• Phenotype: immune system phenotype; pigmentation phenotype; hematopoietic system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: cell differentiation
• Cellular component: cytoplasm