FURIN
furin, paired basic amino acid cleaving enzyme, the group of Proprotein convertase subtilisin/kexin family
Basic information
Region (hg38): 15:90868588-90883564
Previous symbols: [ "PCSK3", "FUR", "PACE" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FURIN 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 | 3 | |||||
| missense | 51 | 52 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 1 | |||||
| Total | 0 | 0 | 51 | 4 | 1 |
Variants in FURIN
This is a list of pathogenic ClinVar variants found in the FURIN region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 15-90873320-C-A | Benign (Jan 10, 2019) | |||
| 15-90875888-C-T | not specified | Uncertain significance (Jun 30, 2022) | ||
| 15-90876295-C-T | not specified | Uncertain significance (Jun 06, 2023) | ||
| 15-90876318-C-T | Likely benign (Jan 01, 2023) | |||
| 15-90876319-G-A | not specified | Uncertain significance (May 04, 2023) | ||
| 15-90876521-G-T | not specified | Uncertain significance (Oct 03, 2024) | ||
| 15-90876535-A-C | not specified | Uncertain significance (Jul 06, 2021) | ||
| 15-90876930-C-T | not specified | Uncertain significance (Mar 01, 2023) | ||
| 15-90876939-C-T | not specified | Uncertain significance (Dec 21, 2023) | ||
| 15-90876956-C-T | not specified | Uncertain significance (Jul 26, 2024) | ||
| 15-90876958-C-T | Likely benign (Jul 01, 2022) | |||
| 15-90876982-C-T | Likely benign (Nov 01, 2024) | |||
| 15-90877138-C-A | not specified | Uncertain significance (Aug 13, 2021) | ||
| 15-90877166-A-T | not specified | Uncertain significance (Jul 09, 2024) | ||
| 15-90877567-A-C | not specified | Uncertain significance (May 31, 2023) | ||
| 15-90878291-G-A | not specified | Uncertain significance (Aug 22, 2023) | ||
| 15-90878842-G-A | not specified | Uncertain significance (Jan 26, 2023) | ||
| 15-90878855-G-T | not specified | Uncertain significance (Nov 15, 2021) | ||
| 15-90878875-A-G | not specified | Uncertain significance (Nov 09, 2021) | ||
| 15-90878930-C-T | not specified | Uncertain significance (Feb 23, 2023) | ||
| 15-90879708-G-T | not specified | Uncertain significance (Apr 07, 2022) | ||
| 15-90879723-C-T | not specified | Uncertain significance (Jul 12, 2023) | ||
| 15-90879736-A-G | not specified | Uncertain significance (Jul 30, 2024) | ||
| 15-90879750-G-T | not specified | Uncertain significance (Aug 12, 2021) | ||
| 15-90879950-C-T | not specified | Uncertain significance (Apr 18, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FURIN | protein_coding | protein_coding | ENST00000268171 | 15 | 14867 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.0000627 | 125730 | 0 | 5 | 125735 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.50 | 366 | 528 | 0.693 | 0.0000351 | 5115 |
| Missense in Polyphen | 69 | 184.55 | 0.37389 | 1831 | ||
| Synonymous | -0.662 | 249 | 236 | 1.05 | 0.0000176 | 1639 |
| Loss of Function | 5.47 | 3 | 40.7 | 0.0738 | 0.00000217 | 403 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000583 | 0.0000583 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000177 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif (PubMed:11799113, PubMed:1629222, PubMed:1713771, PubMed:2251280, PubMed:24666235, PubMed:25974265, PubMed:7592877, PubMed:7690548, PubMed:9130696). Mediates processing of TGFB1, an essential step in TGF-beta-1 activation (PubMed:7737999). {ECO:0000269|PubMed:11799113, ECO:0000269|PubMed:1629222, ECO:0000269|PubMed:1713771, ECO:0000269|PubMed:2251280, ECO:0000269|PubMed:24666235, ECO:0000269|PubMed:25974265, ECO:0000269|PubMed:7592877, ECO:0000269|PubMed:7690548, ECO:0000269|PubMed:7737999, ECO:0000269|PubMed:9130696}.; FUNCTION: (Microbial infection) Required for H7N1 and H5N1 influenza virus infection probably by cleaving hemagglutinin. {ECO:0000269|PubMed:25974265}.;
- Pathway
- Influenza A - Homo sapiens (human);Keratinization;Developmental Biology;Disease;Signal Transduction;proteolysis and signaling pathway of notch;Synthesis and processing of ENV and VPU;Assembly Of The HIV Virion;Late Phase of HIV Life Cycle;HIV Life Cycle;HIV Infection;Post-translational protein modification;Collagen degradation;Metabolism of proteins;Signaling by PDGF;Extracellular matrix organization;DroToll-like;Removal of aminoterminal propeptides from gamma-carboxylated proteins;Gamma-carboxylation, transport, and amino-terminal cleavage of proteins;Uptake and actions of bacterial toxins;Gamma carboxylation, hypusine formation and arylsulfatase activation;Uptake and function of anthrax toxins;Notch;Infectious disease;Elastic fibre formation;Pre-NOTCH Processing in Golgi;Pre-NOTCH Expression and Processing;Transport of small molecules;Signaling by NOTCH;Activation of Matrix Metalloproteinases;NGF processing;Expression and Processing of Neurotrophins;Signaling by NODAL;Signaling by NTRKs;Assembly of active LPL and LIPC lipase complexes;Degradation of the extracellular matrix;Plasma lipoprotein assembly, remodeling, and clearance;Notch signaling pathway;Plasma lipoprotein remodeling;Signaling by Receptor Tyrosine Kinases;Signaling by TGF-beta Receptor Complex;Signaling by TGF-beta family members;TGF-beta receptor signaling activates SMADs;Glypican 3 network;p75(NTR)-mediated signaling;HIF-1-alpha transcription factor network;Formation of the cornified envelope
(Consensus)
Recessive Scores
- pRec
- 0.770
Intolerance Scores
- loftool
- 0.0230
- rvis_EVS
- -0.79
- rvis_percentile_EVS
- 12.57
Haploinsufficiency Scores
- pHI
- 0.566
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.479
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.786
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Furin
- Phenotype
- growth/size/body region 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); embryo phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal 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); digestive/alimentary phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype;
Zebrafish Information Network
- Gene name
- furinb
- Affected structure
- interhyal-epihyal joint
- Phenotype tag
- abnormal
- Phenotype quality
- absent
Gene ontology
- Biological process
- signal peptide processing;transforming growth factor beta receptor signaling pathway;cell population proliferation;regulation of signal transduction;negative regulation of endopeptidase activity;protein processing;peptide hormone processing;viral life cycle;viral protein processing;extracellular matrix disassembly;extracellular matrix organization;collagen catabolic process;zymogen activation;negative regulation of low-density lipoprotein particle receptor catabolic process;nerve growth factor production;negative regulation of nerve growth factor production;negative regulation of transforming growth factor beta1 production;secretion by cell;regulation of protein catabolic process;peptide biosynthetic process;cellular protein metabolic process;regulation of low-density lipoprotein particle receptor biosynthetic process;regulation of lipoprotein lipase activity;positive regulation of membrane protein ectodomain proteolysis;regulation of endopeptidase activity;cornification;dibasic protein processing;positive regulation of transforming growth factor beta1 activation
- Cellular component
- Golgi membrane;extracellular region;extracellular space;endoplasmic reticulum;Golgi lumen;trans-Golgi network;plasma membrane;cell surface;endosome membrane;membrane;integral component of membrane;trans-Golgi network transport vesicle;integral component of Golgi membrane;membrane raft;extracellular exosome
- Molecular function
- protease binding;endopeptidase activity;serine-type endopeptidase activity;serine-type endopeptidase inhibitor activity;protein binding;peptidase activity;peptide binding;metal ion binding;nerve growth factor binding