FCAMR

Fc alpha and mu receptor, the group of V-set domain containing|CD molecules|Fc receptors

Basic information

Region (hg38): 1:206957965-206970625

Links

ENSG00000162897 ∙ NCBI:83953 ∙ OMIM:605484 ∙ HGNC:24692 ∙ Uniprot:Q8WWV6 ∙ 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 FCAMR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCAMR 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			31	3		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	3	0

Variants in FCAMR

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

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

Position	Type	Phenotype	Significance	ClinVar
1-206958523-C-T		not specified	Uncertain significance (Nov 07, 2022)
1-206958559-G-A		not specified	Uncertain significance (Jul 08, 2022)
1-206958566-G-A		not specified	Uncertain significance (Apr 06, 2024)
1-206958632-G-C		not specified	Uncertain significance (Apr 11, 2023)
1-206959714-A-G		not specified	Uncertain significance (Jun 09, 2022)
1-206959775-T-C		not specified	Uncertain significance (May 04, 2023)
1-206959781-C-T		not specified	Likely benign (Nov 30, 2022)
1-206960452-C-G		not specified	Uncertain significance (Oct 05, 2023)
1-206960458-G-A		not specified	Uncertain significance (May 29, 2024)
1-206960485-G-A		not specified	Uncertain significance (Oct 04, 2022)
1-206960510-T-A		not specified	Uncertain significance (Jun 10, 2024)
1-206960551-G-T		not specified	Uncertain significance (Apr 06, 2024)
1-206960665-C-A		not specified	Uncertain significance (Jan 31, 2022)
1-206960695-G-T		not specified	Uncertain significance (Apr 12, 2024)
1-206960732-C-A		not specified	Uncertain significance (May 15, 2023)
1-206960921-T-C		not specified	Uncertain significance (Mar 15, 2024)
1-206960944-C-G		not specified	Uncertain significance (May 27, 2022)
1-206960963-G-A		not specified	Uncertain significance (Oct 27, 2023)
1-206961031-C-T		not specified	Likely benign (Nov 23, 2021)
1-206961052-G-A		not specified	Uncertain significance (May 16, 2023)
1-206961064-G-A		not specified	Uncertain significance (Nov 01, 2022)
1-206961073-G-A		not specified	Uncertain significance (Jun 17, 2024)
1-206961094-G-A		not specified	Uncertain significance (Dec 21, 2022)
1-206961098-T-C		not specified	Uncertain significance (Jul 17, 2023)
1-206961155-C-T		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCAMR	protein_coding	protein_coding	ENST00000324852	8	12661

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.48e-10	0.354	124558	0	38	124596	0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.00	263	313	0.840	0.0000157	3657
Missense in Polyphen		51	54.255	0.94		693
Synonymous	-0.939	129	116	1.11	0.00000598	1244
Loss of Function	0.940	17	21.7	0.782	0.00000102	251

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000261	0.000261
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000564	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.000179	0.000177
Middle Eastern	0.0000564	0.0000556
South Asian	0.000164	0.000163
Other	0.000496	0.000495

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a receptor for the Fc fragment of IgA and IgM. Binds IgA and IgM with high affinity and mediates their endocytosis. May function in the immune response to microbes mediated by IgA and IgM. {ECO:0000269|PubMed:11779189}.
• Pathway: Cell surface interactions at the vascular wall;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.363

Intolerance Scores

• loftool: 0.940
• rvis_EVS: 1.53
• rvis_percentile_EVS: 95.54

Haploinsufficiency Scores

• pHI: 0.0474
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0378

Gene Damage Prediction

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

Mouse Genome Informatics

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

Gene ontology

• Biological process: adaptive immune response;leukocyte migration
• Cellular component: plasma membrane;integral component of membrane