FCMR

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

Basic information

Region (hg38): 1:206903317-206923247

Previous symbols: [ "FAIM3" ]

Links

ENSG00000162894 ∙ NCBI:9214 ∙ OMIM:606015 ∙ HGNC:14315 ∙ Uniprot:O60667 ∙ 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 FCMR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCMR 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			28	6	1	35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	6	1

Variants in FCMR

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

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

Position	Type	Phenotype	Significance	ClinVar
1-206905026-G-A		not specified	Uncertain significance (Feb 12, 2024)
1-206905064-C-G		not specified	Uncertain significance (Mar 31, 2022)
1-206905069-C-T		not specified	Likely benign (Mar 22, 2023)
1-206905122-G-A			Benign (Jan 01, 2023)
1-206909493-G-C		not specified	Uncertain significance (Dec 05, 2024)
1-206909497-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-206909500-G-C		not specified	Uncertain significance (Oct 10, 2023)
1-206909503-C-T		not specified	Uncertain significance (Dec 13, 2021)
1-206909504-G-C		not specified	Likely benign (Dec 04, 2024)
1-206909735-C-T		not specified	Likely benign (Jan 23, 2024)
1-206909736-G-C		not specified	Uncertain significance (Feb 28, 2024)
1-206909759-G-T		not specified	Likely benign (Nov 10, 2024)
1-206909778-T-A		not specified	Uncertain significance (Jun 10, 2024)
1-206909788-G-T		not specified	Uncertain significance (Feb 22, 2023)
1-206909808-C-A		not specified	Uncertain significance (Feb 14, 2023)
1-206909820-T-C		not specified	Uncertain significance (Jul 25, 2024)
1-206909828-G-A		not specified	Likely benign (Dec 09, 2023)
1-206910217-C-G		not specified	Uncertain significance (Nov 13, 2024)
1-206910249-G-T		not specified	Uncertain significance (Mar 19, 2024)
1-206910257-A-G		not specified	Uncertain significance (Aug 17, 2022)
1-206910291-T-A		not specified	Uncertain significance (Feb 17, 2022)
1-206911735-C-A		not specified	Uncertain significance (Jun 22, 2021)
1-206911835-C-T		not specified	Uncertain significance (Feb 28, 2023)
1-206911847-C-T		not specified	Uncertain significance (Sep 06, 2022)
1-206911944-G-C		not specified	Uncertain significance (Oct 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCMR	protein_coding	protein_coding	ENST00000367091	8	18862

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000160	0.877	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.371	177	191	0.924	0.0000103	2454
Missense in Polyphen		39	45.185	0.86312		571
Synonymous	0.694	71	78.8	0.901	0.00000440	844
Loss of Function	1.48	10	16.5	0.607	9.44e-7	195

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.0000556	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000704	0.0000703
Middle Eastern	0.0000556	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the immune system processes. Protects cells from FAS-, TNF alpha- and FADD-induced apoptosis without increasing expression of the inhibitors of apoptosis BCL2 and BCLXL. Seems to activate an inhibitory pathway that prevents CASP8 activation following FAS stimulation, rather than blocking apoptotic signals downstream. May inhibit FAS-induced apoptosis by preventing CASP8 processing through CFLAR up-regulation. {ECO:0000269|PubMed:9586636}.

Recessive Scores

• pRec: 0.0995

Intolerance Scores

• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.22

Haploinsufficiency Scores

• pHI: 0.0917
• hipred: N
• hipred_score: 0.153
• ghis: 0.460

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fcmr
• Phenotype: endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; immune system phenotype; cellular phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: immune system process;cellular defense response;negative regulation of apoptotic process
• Cellular component: extracellular region;integral component of membrane