FCGBP

Fc gamma binding protein

Basic information

Region (hg38): 19:39863323-39934626

Links

ENSG00000275395 ∙ NCBI:8857 ∙ OMIM:617553 ∙ HGNC:13572 ∙ Uniprot:Q9Y6R7 ∙ 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 FCGBP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCGBP 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				21		21
missense			285	17		302
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	285	38	0

Variants in FCGBP

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

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

Position	Type	Phenotype	Significance	ClinVar
19-39863700-C-G		not specified	Uncertain significance (Dec 28, 2023)
19-39863700-C-T		not specified	Uncertain significance (Oct 10, 2023)
19-39863744-T-C		not specified	Uncertain significance (Oct 12, 2021)
19-39863771-T-C		not specified	Uncertain significance (Mar 07, 2024)
19-39863825-T-C		not specified	Uncertain significance (Sep 22, 2023)
19-39863840-A-C		not specified	Uncertain significance (Mar 29, 2023)
19-39863853-C-T		not specified	Likely benign (Sep 08, 2024)
19-39863870-A-C		not specified	Uncertain significance (Oct 06, 2022)
19-39863879-C-T		not specified	Likely benign (Mar 27, 2023)
19-39866799-C-T		not specified	Uncertain significance (Aug 26, 2022)
19-39866880-A-G		not specified	Uncertain significance (Sep 09, 2024)
19-39866927-G-A		not specified	Uncertain significance (Oct 26, 2024)
19-39866955-C-T		not specified	Uncertain significance (May 04, 2023)
19-39866960-G-A		not specified	Uncertain significance (Dec 15, 2023)
19-39866971-G-A			Likely benign (May 01, 2022)
19-39866997-G-A		not specified	Uncertain significance (Apr 23, 2024)
19-39867015-C-G		not specified	Uncertain significance (Jun 25, 2024)
19-39867042-C-T		not specified	Uncertain significance (Sep 17, 2021)
19-39867048-G-C		not specified	Uncertain significance (Jul 30, 2024)
19-39867054-T-C		not specified	Uncertain significance (Jun 11, 2021)
19-39867087-C-T		not specified	Likely benign (Jan 23, 2024)
19-39870226-C-T		not specified	Uncertain significance (Oct 12, 2024)
19-39870235-T-C		not specified	Uncertain significance (Oct 09, 2024)
19-39870269-C-A		not specified	Uncertain significance (Mar 20, 2023)
19-39870296-C-T		not specified	Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the maintenance of the mucosal structure as a gel-like component of the mucosa. {ECO:0000269|PubMed:9182547}.

Haploinsufficiency Scores

• pHI: 0.543

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.156

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Fcgbp

Gene ontology

• Cellular component: extracellular exosome
• Molecular function: protein binding