FES

FES proto-oncogene, tyrosine kinase, the group of SH2 domain containing|F-BAR domain containing |Fes family tyrosine kinases

Basic information

Region (hg38): 15:90883695-90895776

Links

ENSG00000182511 ∙ NCBI:2242 ∙ OMIM:190030 ∙ HGNC:3657 ∙ Uniprot:P07332 ∙ 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 FES gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FES 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				1	2	3
missense			43	3	1	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	4	3

Variants in FES

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

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

Position	Type	Phenotype	Significance	ClinVar
15-90885059-C-T		not specified	Uncertain significance (Jun 28, 2023)
15-90885130-G-C		not specified	Uncertain significance (Mar 06, 2023)
15-90885178-G-C		not specified	Uncertain significance (Nov 24, 2024)
15-90885222-G-C		not specified	Uncertain significance (Nov 21, 2023)
15-90885443-G-A		not specified	Uncertain significance (May 23, 2023)
15-90885452-G-A		not specified	Uncertain significance (Dec 03, 2024)
15-90885550-G-A		not specified	Uncertain significance (Aug 07, 2024)
15-90886998-A-T		not specified	Uncertain significance (Nov 10, 2024)
15-90887034-G-A		not specified	Uncertain significance (Dec 05, 2022)
15-90887052-G-A		not specified	Uncertain significance (Jan 17, 2024)
15-90887196-G-A		not specified	Uncertain significance (Oct 25, 2024)
15-90887276-G-C		not specified	Uncertain significance (Dec 13, 2023)
15-90887296-G-C		not specified	Uncertain significance (Aug 20, 2024)
15-90887306-C-G		not specified	Uncertain significance (Jul 29, 2023)
15-90887322-G-A		not specified	Uncertain significance (Jun 07, 2023)
15-90887351-G-A		not specified	Uncertain significance (Mar 25, 2024)
15-90889312-G-C		not specified	Uncertain significance (Oct 06, 2022)
15-90889361-G-T		not specified	Uncertain significance (Feb 28, 2023)
15-90889398-G-A		not specified	Uncertain significance (May 25, 2022)
15-90889434-G-A		not specified	Likely benign (Dec 21, 2022)
15-90889521-G-A		not specified	Likely benign (Jan 30, 2024)
15-90889546-C-T		not specified	Uncertain significance (Jan 03, 2024)
15-90889570-A-G		not specified	Uncertain significance (Nov 01, 2022)
15-90889880-A-G			Benign (Jun 12, 2018)
15-90889908-C-T		not specified	Uncertain significance (Aug 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FES	protein_coding	protein_coding	ENST00000328850	18	12082

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.79e-15	0.972	125692	0	56	125748	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.76	393	504	0.779	0.0000325	5279
Missense in Polyphen		117	173.47	0.67446		1842
Synonymous	-0.619	219	208	1.05	0.0000127	1647
Loss of Function	2.44	31	49.5	0.626	0.00000281	484

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000174	0.000174
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000163	0.000163
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000323	0.000316
Middle Eastern	0.000163	0.000163
South Asian	0.000229	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tyrosine-protein kinase that acts downstream of cell surface receptors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, cell attachment and cell spreading. Plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Acts down- stream of the activated FCER1 receptor and the mast/stem cell growth factor receptor KIT. Plays a role in the regulation of mast cell degranulation. Plays a role in the regulation of cell differentiation and promotes neurite outgrowth in response to NGF signaling. Plays a role in cell scattering and cell migration in response to HGF-induced activation of EZR. Phosphorylates BCR and down-regulates BCR kinase activity. Phosphorylates HCLS1/HS1, PECAM1, STAT3 and TRIM28. {ECO:0000269|PubMed:11509660, ECO:0000269|PubMed:15302586, ECO:0000269|PubMed:15485904, ECO:0000269|PubMed:16455651, ECO:0000269|PubMed:17595334, ECO:0000269|PubMed:18046454, ECO:0000269|PubMed:19001085, ECO:0000269|PubMed:19051325, ECO:0000269|PubMed:20111072, ECO:0000269|PubMed:2656706, ECO:0000269|PubMed:8955135}.
• Disease: DISEASE: Note=Has been shown to act as proto-oncogene in some types of cancer, possibly due to abnormal activation of the kinase. Has been shown to act as tumor suppressor in other types of cancer. Expressed and present as activated kinase in a subset of acute myeloid leukemia patients; promotes survival of leukemia cells (PubMed:20111072). Expression is absent in K562 leukemia cells; ectopic expression of FSP/FES restores myeloid differentiation (PubMed:2656706). May function as tumor suppressor in colorectal cancer; expression is reduced or absent in samples from some colon cancer patients (PubMed:16455651). Ectopic expression of FSP/FES suppresses anchorage-independent growth in colon cancer cell lines (PubMed:16455651). Up-regulated in prostate cancer, and might be a predictor of recurrence after radical surgery (PubMed:21563194). May promote growth of renal carcinoma cells (PubMed:19082481). {ECO:0000269|PubMed:16455651, ECO:0000269|PubMed:19082481, ECO:0000269|PubMed:20111072, ECO:0000269|PubMed:21563194, ECO:0000269|PubMed:2656706}.
• Pathway: Axon guidance - Homo sapiens (human);Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;Interleukin-11 Signaling Pathway;IL-4 Signaling Pathway;Developmental Biology;Signal Transduction;KitReceptor;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Sema3A PAK dependent Axon repulsion;Semaphorin interactions;IL11;IL3;Angiopoietin receptor Tie2-mediated signaling;IL4;Axon guidance;Signaling by SCF-KIT;CRMPs in Sema3A signaling;Signaling by Receptor Tyrosine Kinases;IL4-mediated signaling events;Signaling events mediated by VEGFR1 and VEGFR2 (Consensus)

Recessive Scores

• pRec: 0.400

Intolerance Scores

• loftool: 0.285
• rvis_EVS: -0.92
• rvis_percentile_EVS: 9.77

Haploinsufficiency Scores

• pHI: 0.337
• hipred: Y
• hipred_score: 0.706
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.965

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fes
• Phenotype: immune system phenotype; vision/eye phenotype; digestive/alimentary 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); neoplasm; 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); hematopoietic system phenotype; reproductive system phenotype; 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); liver/biliary system phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; muscle phenotype; endocrine/exocrine gland 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)

Gene ontology

• Biological process: microtubule bundle formation;protein phosphorylation;chemotaxis;centrosome cycle;cell adhesion;multicellular organism development;cell population proliferation;regulation of cell shape;positive regulation of neuron projection development;peptidyl-tyrosine phosphorylation;regulation of cell adhesion;positive regulation of microtubule polymerization;regulation of cell population proliferation;regulation of mast cell degranulation;regulation of cell differentiation;positive regulation of myeloid cell differentiation;protein autophosphorylation;regulation of vesicle-mediated transport;regulation of cell motility;positive regulation of actin cytoskeleton reorganization
• Cellular component: cytoplasm;Golgi apparatus;cytosol;focal adhesion;microtubule cytoskeleton;extrinsic component of cytoplasmic side of plasma membrane;cytoplasmic vesicle
• Molecular function: protein tyrosine kinase activity;non-membrane spanning protein tyrosine kinase activity;protein binding;ATP binding;microtubule binding;immunoglobulin receptor binding;phosphatidylinositol binding