SFN
stratifin, the group of 14-3-3 phospho-serine/phospho-threonine binding proteins
Basic information
Region (hg38): 1:26863149-26864456
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 SFN 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 | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 13 | 0 | 0 |
Variants in SFN
This is a list of pathogenic ClinVar variants found in the SFN region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-26863270-G-A | not specified | Uncertain significance (Jul 30, 2023) | ||
| 1-26863303-G-C | not specified | Uncertain significance (Sep 20, 2023) | ||
| 1-26863306-A-G | not specified | Uncertain significance (Oct 09, 2024) | ||
| 1-26863438-G-C | not specified | Uncertain significance (Oct 08, 2024) | ||
| 1-26863445-G-T | not specified | Uncertain significance (Oct 29, 2024) | ||
| 1-26863457-G-A | not specified | Uncertain significance (Dec 07, 2021) | ||
| 1-26863523-A-T | not specified | Uncertain significance (May 16, 2024) | ||
| 1-26863540-G-A | not specified | Uncertain significance (Jan 29, 2024) | ||
| 1-26863562-G-A | not specified | Uncertain significance (Oct 30, 2023) | ||
| 1-26863694-A-G | not specified | Uncertain significance (Aug 02, 2021) | ||
| 1-26863700-C-T | not specified | Uncertain significance (Jul 15, 2024) | ||
| 1-26863724-G-T | not specified | Uncertain significance (May 30, 2023) | ||
| 1-26863748-T-A | not specified | Uncertain significance (Mar 07, 2023) | ||
| 1-26863810-G-C | not specified | Uncertain significance (Sep 08, 2024) | ||
| 1-26863889-A-G | not specified | Uncertain significance (Jan 03, 2024) | ||
| 1-26863919-G-A | not specified | Uncertain significance (Feb 06, 2024) | ||
| 1-26863927-G-C | not specified | Uncertain significance (May 31, 2022) | ||
| 1-26863952-A-G | not specified | Uncertain significance (Jan 10, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SFN | protein_coding | protein_coding | ENST00000339276 | 1 | 1315 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.365 | 0.624 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.40 | 114 | 164 | 0.694 | 0.0000107 | 1617 |
| Missense in Polyphen | 44 | 63.912 | 0.68845 | 654 | ||
| Synonymous | 2.37 | 52 | 78.8 | 0.660 | 0.00000607 | 494 |
| Loss of Function | 2.15 | 2 | 8.94 | 0.224 | 5.49e-7 | 89 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. When bound to KRT17, regulates protein synthesis and epithelial cell growth by stimulating Akt/mTOR pathway. May also regulate MDM2 autoubiquitination and degradation and thereby activate p53/TP53. {ECO:0000269|PubMed:18382127}.;
- Pathway
- Cell cycle - Homo sapiens (human);p53 signaling pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);miRNA Regulation of DNA Damage Response;Myometrial Relaxation and Contraction Pathways;TP53 Regulates Transcription of Cell Cycle Genes;Calcium Regulation in the Cardiac Cell;DNA Damage Response;Signal Transduction;Gene expression (Transcription);Vesicle-mediated transport;estrogen responsive protein efp controls cell cycle and breast tumors growth;Membrane Trafficking;Generic Transcription Pathway;Alpha6Beta4Integrin;Fas;Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex;RNA Polymerase II Transcription;Activation of BAD and translocation to mitochondria ;G2/M DNA damage checkpoint;Activation of BH3-only proteins;G2/M Checkpoints;Intrinsic Pathway for Apoptosis;Cell Cycle Checkpoints;Apoptosis;FGF;Programmed Cell Death;p73 transcription factor network;insulin Mam;TP53 Regulates Metabolic Genes;RHO GTPases activate PKNs;cell cycle: g2/m checkpoint;RHO GTPase Effectors;Signaling by Rho GTPases;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;TP53 Regulates Transcription of Cell Cycle Genes;Glucocorticoid receptor regulatory network;ErbB1 downstream signaling;a6b1 and a6b4 Integrin signaling;Transcriptional Regulation by TP53;Direct p53 effectors;Cell Cycle;Translocation of GLUT4 to the plasma membrane;EGF;Regulation of nuclear beta catenin signaling and target gene transcription;mTOR signaling pathway;Insulin-mediated glucose transport;Validated transcriptional targets of deltaNp63 isoforms;p38 signaling mediated by MAPKAP kinases;FoxO family signaling;Role of Calcineurin-dependent NFAT signaling in lymphocytes;Class I PI3K signaling events mediated by Akt;Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;LKB1 signaling events;insulin
(Consensus)
Recessive Scores
- pRec
- 0.347
Intolerance Scores
- loftool
- 0.373
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 36.86
Haploinsufficiency Scores
- pHI
- 0.599
- hipred
- Y
- hipred_score
- 0.713
- ghis
- 0.607
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.937
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Sfn
- Phenotype
- neoplasm; 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); reproductive system phenotype; hematopoietic system phenotype; liver/biliary system phenotype; respiratory system phenotype; embryo phenotype; skeleton phenotype; immune system phenotype; vision/eye phenotype; craniofacial phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; digestive/alimentary phenotype; endocrine/exocrine gland 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); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- regulation of cyclin-dependent protein serine/threonine kinase activity;release of cytochrome c from mitochondria;keratinocyte development;negative regulation of protein kinase activity;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;signal transduction;intrinsic apoptotic signaling pathway in response to DNA damage;regulation of epidermal cell division;negative regulation of keratinocyte proliferation;positive regulation of cell growth;keratinization;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;positive regulation of epidermal cell differentiation;positive regulation of protein export from nucleus;membrane organization;establishment of skin barrier;negative regulation of protein serine/threonine kinase activity;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
- Cellular component
- extracellular space;nucleus;mitochondrion;cytosol;extracellular exosome
- Molecular function
- protein binding;protein kinase C inhibitor activity;protein kinase binding;protein domain specific binding;identical protein binding;cadherin binding;phosphoprotein binding