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Aliases for FBXW7 Gene

Aliases for FBXW7 Gene

  • F-Box And WD Repeat Domain Containing 7 2 3 5
  • F-Box And WD Repeat Domain Containing 7, E3 Ubiquitin Protein Ligase 2 3
  • F-Box And WD-40 Domain Protein 7 (Archipelago Homolog, Drosophila) 2 3
  • F-Box Protein FBX30 3 4
  • SEL-10 3 4
  • FBX30 3 4
  • SEL10 3 4
  • HCdc4 3 4
  • FBW7 3 4
  • HAgo 3 4
  • F-Box And WD-40 Domain-Containing Protein 7 4
  • F-Box/WD Repeat-Containing Protein 7 3
  • Archipelago Homolog (Drosophila) 2
  • Homolog Of C Elegans Sel-10 3
  • F-Box Protein SEL-10 3
  • Archipelago Homolog 4
  • F-Box Protein FBW7 3
  • Archipelago 3
  • FBXO30 3
  • FBXW6 3
  • CDC4 3
  • FBW6 3
  • AGO 3

External Ids for FBXW7 Gene

Previous GeneCards Identifiers for FBXW7 Gene

  • GC04M154093
  • GC04M153631
  • GC04M153708
  • GC04M153820
  • GC04M153821
  • GC04M153600
  • GC04M153461
  • GC04M153242
  • GC04M148968

Summaries for FBXW7 Gene

Entrez Gene Summary for FBXW7 Gene

  • This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

CIViC summary for FBXW7 Gene

GeneCards Summary for FBXW7 Gene

FBXW7 (F-Box And WD Repeat Domain Containing 7) is a Protein Coding gene. Diseases associated with FBXW7 include Hyperlucent Lung and Lung Adenoid Cystic Carcinoma. Among its related pathways are Notch signaling pathway (KEGG) and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and ubiquitin protein ligase binding. An important paralog of this gene is ZNF106.

UniProtKB/Swiss-Prot for FBXW7 Gene

  • Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:17434132). Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:29149593, PubMed:25775507). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitination and subsequent degradation of NFE2L1 (By similarity). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593).

Gene Wiki entry for FBXW7 Gene

Additional gene information for FBXW7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXW7 Gene

Genomics for FBXW7 Gene

GeneHancer (GH) Regulatory Elements for FBXW7 Gene

Promoters and enhancers for FBXW7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J152533 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.1 -144 4.7 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 MIR4453HG MIR4453 FBXW7
GH04J152348 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.1 +185.0 184989 5.4 PKNOX1 SIN3A FEZF1 ZNF2 GLIS2 ZNF143 ATF7 RUNX3 REST TSHZ1 FBXW7 FBXW7-AS1 GC04P152362
GH04J152382 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 650.1 +153.4 153431 1 PKNOX1 TAF1 FBXW7 GC04M152372 GC04P152461
GH04J152679 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 10.4 -144.6 -144621 4.2 HDGF ATF1 PKNOX1 SIN3A IRF4 ETS1 ZNF143 ATF7 RUNX3 NBN TMEM154 LOC105377495 FBXW7 GC04P152678 GC04M152687
GH04J152678 Enhancer 0.6 FANTOM5 dbSUPER 28.9 -142.3 -142322 0.4 ZNF148 CEBPG TMEM154 LOC105377495 GC04P152678 FBXW7 ARFIP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBXW7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXW7 gene promoter:
  • c-Jun
  • ATF-2
  • AP-1

Genomic Locations for FBXW7 Gene

Genomic Locations for FBXW7 Gene
chr4:152,320,544-152,536,095
(GRCh38/hg38)
Size:
215,552 bases
Orientation:
Minus strand
chr4:153,242,410-153,457,253
(GRCh37/hg19)
Size:
214,844 bases
Orientation:
Minus strand

Genomic View for FBXW7 Gene

Genes around FBXW7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXW7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXW7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXW7 Gene

Proteins for FBXW7 Gene

  • Protein details for FBXW7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969H0-FBXW7_HUMAN
    Recommended name:
    F-box/WD repeat-containing protein 7
    Protein Accession:
    Q969H0
    Secondary Accessions:
    • B7ZLP9
    • Q68DR0
    • Q96A16
    • Q96LE0
    • Q96RI2
    • Q9NUX6

    Protein attributes for FBXW7 Gene

    Size:
    707 amino acids
    Molecular mass:
    79663 Da
    Quaternary structure:
    • Homodimer; homodimerization plays a role in substrate binding and/or ubiquitination and degradation (PubMed:22608923, PubMed:17434132). Component of the SCF(FBXW7) complex consisting of CUL1, RBX1, SKP1 and FBXW7. Interacts with PSEN1, cyclin-E (CCNE1 or CCNE2), NOTCH1 intracellular domain/NICD, NOTCH4 intracellular domain/NICD and SKP1. Interacts with MYC (when phosphorylated) (PubMed:17873522, PubMed:25775507). Isoform 1 interacts with USP28, leading to counteract ubiquitination of MYC (PubMed:17873522). Isoform 3 interacts (via WD repeats) with SV40 large T antigen (via CPD region). Forms a trimeric complex with NOTCH1 and SGK1. Interacts with JUN (PubMed:14739463, PubMed:22608923). Found in a complex with JUN and PRR7 (PubMed:27458189). Interacts with JUN and PRR7; the interaction inhibits ubiquitination-mediated JUN degradation promoting its phosphorylation and transcriptional activity (PubMed:27458189). Interacts (when phosphorylated at Thr-205) with PIN1, leading to disrupt FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923). Interacts with UBE2QL1 (PubMed:24000165). Interacts with FAM83D; promotes FBXW7 degradation (PubMed:24344117). Interacts with MYCN; FBXW7 competes with AURKA for binding to unphosphorylated MYCN but not for binding to phosphorylated MYCN (PubMed:27837025). Isoform 3 interacts with STOML1 (PubMed:23082202). Interacts with NFE2L1 (By similarity). Interacts with NOTCH2 intracellular domain (N2ICD) (PubMed:29149593). Isoform 3 interacts with USP36, leading to counteract ubiquitination of MYC (PubMed:25775507).
    SequenceCaution:
    • Sequence=BAA91986.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBXW7 Gene

    Alternative splice isoforms for FBXW7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXW7 Gene

Post-translational modifications for FBXW7 Gene

  • Phosphorylation at Thr-205 promotes interaction with PIN1, leading to disrupt FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923).
  • Ubiquitinated: autoubiquitinates following phosphorylation at Thr-205 and subsequent interaction with PIN1. Ubiquitination leads to its degradation (PubMed:22608923).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for FBXW7

No data available for DME Specific Peptides for FBXW7 Gene

Domains & Families for FBXW7 Gene

Gene Families for FBXW7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for FBXW7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969H0

UniProtKB/Swiss-Prot:

FBXW7_HUMAN :
  • The WD repeats mediate interaction with substrates of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.
Domain:
  • The WD repeats mediate interaction with substrates of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.
  • The F-box domain mediates interaction with SKP1.
genes like me logo Genes that share domains with FBXW7: view

Function for FBXW7 Gene

Molecular function for FBXW7 Gene

UniProtKB/Swiss-Prot Function:
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:17434132). Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:29149593, PubMed:25775507). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitination and subsequent degradation of NFE2L1 (By similarity). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593).

Gene Ontology (GO) - Molecular Function for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 11533444
GO:0030332 cyclin binding IPI 17434132
GO:0030674 protein binding, bridging IDA 12628165
GO:0031625 ubiquitin protein ligase binding IPI 12628165
genes like me logo Genes that share ontologies with FBXW7: view
genes like me logo Genes that share phenotypes with FBXW7: view

Animal Models for FBXW7 Gene

MGI Knock Outs for FBXW7:

Animal Model Products

CRISPR Products

miRNA for FBXW7 Gene

miRTarBase miRNAs that target FBXW7

Clone Products

  • Addgene plasmids for FBXW7

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXW7 Gene

Localization for FBXW7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXW7 Gene

Isoform 1: Nucleus, nucleoplasm.
Isoform 2: Cytoplasm.
Isoform 3: Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBXW7 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA 23858059
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FBXW7: view

Pathways & Interactions for FBXW7 Gene

genes like me logo Genes that share pathways with FBXW7: view

SIGNOR curated interactions for FBXW7 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FBXW7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0001944 vasculature development TAS 21123947
GO:0007062 sister chromatid cohesion IMP 15917200
GO:0010868 negative regulation of triglyceride biosynthetic process ISS --
GO:0010883 regulation of lipid storage ISS --
genes like me logo Genes that share ontologies with FBXW7: view

Drugs & Compounds for FBXW7 Gene

(1) Additional Compounds for FBXW7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBXW7: view

Transcripts for FBXW7 Gene

Unigene Clusters for FBXW7 Gene

F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for FBXW7

Alternative Splicing Database (ASD) splice patterns (SP) for FBXW7 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4:
SP5:

Relevant External Links for FBXW7 Gene

GeneLoc Exon Structure for
FBXW7
ECgene alternative splicing isoforms for
FBXW7

Expression for FBXW7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXW7 Gene

mRNA differential expression in normal tissues according to GTEx for FBXW7 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FBXW7 Gene



Protein tissue co-expression partners for FBXW7 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXW7 Gene:

FBXW7

SOURCE GeneReport for Unigene cluster for FBXW7 Gene:

Hs.561245

mRNA Expression by UniProt/SwissProt for FBXW7 Gene:

Q969H0-FBXW7_HUMAN
Tissue specificity: Isoform 1 is widely expressed. Isoform 3 is expressed in brain.

Evidence on tissue expression from TISSUES for FBXW7 Gene

  • Nervous system(4.9)
  • Eye(2.8)
  • Intestine(2.5)
  • Lung(2.3)
  • Skin(2.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with FBXW7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXW7 Gene

Orthologs for FBXW7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FBXW7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXW7 34 33
  • 99.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBXW7 34 33
  • 96.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBXW7 34 33
  • 93.3 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxw7 33
  • 90.52 (n)
mouse
(Mus musculus)
Mammalia Fbxw7 16 34 33
  • 90.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXW7 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXW7 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXW7 34 33
  • 85.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXW7 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxw7 33
  • 80.09 (n)
Str.6549 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32837 33
zebrafish
(Danio rerio)
Actinopterygii fbxw7 33
  • 77.18 (n)
FBXW7 34
  • 76 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005359 33
  • 65.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta ago 34 35
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sel-10 34
  • 46 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET30 34
  • 25 (a)
OneToMany
CDC4 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3633 34
  • 61 (a)
OneToOne
Species where no ortholog for FBXW7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FBXW7 Gene

ENSEMBL:
Gene Tree for FBXW7 (if available)
TreeFam:
Gene Tree for FBXW7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXW7: view image

Paralogs for FBXW7 Gene

Paralogs for FBXW7 Gene

(19) SIMAP similar genes for FBXW7 Gene using alignment to 8 proteins:

  • FBXW7_HUMAN
  • A7BJS8_HUMAN
  • B7Z2C8_HUMAN
  • G0Z2K0_HUMAN
  • H9CWI2_HUMAN
  • H9CWI3_HUMAN
  • S4R3N3_HUMAN
  • S4R3U4_HUMAN
genes like me logo Genes that share paralogs with FBXW7: view

Variants for FBXW7 Gene

Sequence variations from dbSNP and Humsavar for FBXW7 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1057519895 likely-pathogenic, Adenocarcinoma of stomach, Squamous cell carcinoma of lung, Adenoid cystic carcinoma, Uterine Carcinosarcoma, Malignant neoplasm of body of uterus, Carcinoma of esophagus, Squamous cell carcinoma of the head and neck, Medulloblastoma, Chronic lymphocytic leukemia, Neoplasm of the breast, Colorectal Neoplasms, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of lung, Uterine cervical neoplasms 152,328,232(-) C/A/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057519896 likely-pathogenic, Carcinoma of esophagus, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach, Uterine cervical neoplasms, Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma, Squamous cell carcinoma of lung, Transitional cell carcinoma of the bladder, Malignant melanoma of skin, Colorectal Neoplasms, Malignant neoplasm of body of uterus, Chronic lymphocytic leukemia 152,326,136(-) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs149680468 likely-pathogenic, Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma, Squamous cell carcinoma of lung, Transitional cell carcinoma of the bladder, Uterine Carcinosarcoma, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach, Carcinoma of esophagus, Colorectal Neoplasms, Malignant melanoma of skin, Chronic lymphocytic leukemia, Uterine cervical neoplasms 152,326,137(-) G/A/C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs747241612 likely-pathogenic, Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, Squamous cell carcinoma of lung, Glioblastoma, Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder, Adenocarcinoma of stomach, Malignant melanoma of skin, Colorectal Neoplasms, Neoplasm of the breast, Papillary renal cell carcinoma, sporadic, Uterine cervical neoplasms 152,326,215(-) G/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs759610249 likely-pathogenic, Malignant melanoma of skin, Malignant neoplasm of body of uterus, Glioblastoma, Transitional cell carcinoma of the bladder, Uterine Carcinosarcoma, Squamous cell carcinoma of the head and neck, Colorectal Neoplasms, Uterine cervical neoplasms 152,323,032(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for FBXW7 Gene

Variant ID Type Subtype PubMed ID
nsv830116 CNV gain 17160897
nsv523798 CNV loss 19592680
nsv516218 CNV loss 19592680
nsv4553 CNV insertion 18451855
nsv1131833 CNV deletion 24896259
nsv1031970 CNV gain 25217958
dgv5442n100 CNV loss 25217958
dgv5441n100 CNV loss 25217958
dgv5440n100 CNV loss 25217958
dgv5439n100 CNV loss 25217958

Variation tolerance for FBXW7 Gene

Residual Variation Intolerance Score: 36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXW7 Gene

Human Gene Mutation Database (HGMD)
FBXW7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXW7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXW7 Gene

Disorders for FBXW7 Gene

MalaCards: The human disease database

(18) MalaCards diseases for FBXW7 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperlucent lung
  • lung, hyperlucent
lung adenoid cystic carcinoma
  • adenoid cystic carcinoma of lung
serous cystadenocarcinoma
  • serous adenocarcinoma
bladder adenocarcinoma
  • adenocarcinoma of bladder
cystadenocarcinoma
- elite association - COSMIC cancer census association via MalaCards
Search FBXW7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FBXW7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FBXW7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXW7 Gene

Publications for FBXW7 Gene

  1. The SV40 large T antigen contains a decoy phosphodegron that mediates its interactions with Fbw7/hCdc4. (PMID: 15611062) Welcker M … Clurman BE (The Journal of biological chemistry 2005) 3 4 22 58
  2. SEL-10 interacts with presenilin 1, facilitates its ubiquitination, and alters A-beta peptide production. (PMID: 12354302) Li J … Gurney ME (Journal of neurochemistry 2002) 3 4 22 58
  3. A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3 4 58
  4. NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis. (PMID: 29149593) Fukushima H … Inuzuka H (Molecular cell 2017) 3 4 58
  5. Structural basis of N-Myc binding by Aurora-A and its destabilization by kinase inhibitors. (PMID: 27837025) Richards MW … Bayliss R (Proceedings of the National Academy of Sciences of the United States of America 2016) 3 4 58

Products for FBXW7 Gene

  • Addgene plasmids for FBXW7

Sources for FBXW7 Gene

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