Gene Gene information from NCBI Gene database.
Entrez ID 55294
Gene name F-box and WD repeat domain containing 7
Gene symbol FBXW7
Synonyms (NCBI Gene)
AGOCDC4DEDHILFBW6FBW7FBX30FBXO30FBXW6SEL-10SEL10hAgohCdc4
Chromosome 4
Chromosome location 4q31.3
Summary 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), w
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs149680468 G>A,C,T Likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs747241612 G>C Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs759610249 C>T Likely-pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs866987936 C>A,G,T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs867384286 G>A,C Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
607
miRTarBase ID miRNA Experiments Reference
MIRT004756 hsa-miR-107 Luciferase reporter assayMicroarrayNorthern blotWestern blot 20042474
MIRT004757 hsa-miR-128-3p Luciferase reporter assayMicroarrayNorthern blotWestern blot 20042474
MIRT003827 hsa-miR-197-3p Microarray 16822819
MIRT006237 hsa-miR-223-3p Luciferase reporter assayqRT-PCRWestern blot 22270966
MIRT006357 hsa-miR-27a-3p Luciferase reporter assayWestern blot 21460851
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
80
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 25438055
GO:0001944 Process Vasculature development IEA
GO:0001944 Process Vasculature development TAS 21123947
GO:0005515 Function Protein binding IPI 15070733, 15103331, 17157259, 17314511, 17558397, 17873522, 17909182, 19111882, 19412162, 20596027, 20823234, 21145461, 21620836, 22307056, 22939624, 23022380, 23082202, 23108047, 23791182, 24000165, 24344117, 24412244, 25344755, 25775507, 25897075, 27229929, 27238018, 27458189, 278
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606278 16712 ENSG00000109670
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969H0
Protein name F-box/WD repeat-containing protein 7 (Archipelago homolog) (hAgo) (F-box and WD-40 domain-containing protein 7) (F-box protein FBX30) (SEL-10) (hCdc4)
Protein 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 (PubMed:17434132, PubMed:22748924, PubMed:26976582
PDB 2OVP , 2OVQ , 2OVR , 5IBK , 5V4B , 7T1Y , 7T1Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 281 327 F-box-like Domain
PF00400 WD40 370 407 WD domain, G-beta repeat Repeat
PF00400 WD40 411 447 WD domain, G-beta repeat Repeat
PF00400 WD40 451 487 WD domain, G-beta repeat Repeat
PF00400 WD40 491 527 WD domain, G-beta repeat Repeat
PF00400 WD40 531 567 WD domain, G-beta repeat Repeat
PF00400 WD40 571 607 WD domain, G-beta repeat Repeat
PF00400 WD40 611 650 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Widely expressed. {ECO:0000269|PubMed:12354302}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in brain. {ECO:0000269|PubMed:12354302}.
Sequence
MNQELLSVGSKRRRTGGSLRGNPSSSQVDEEQMNRVVEEEQQQQLRQQEEEHTARNGEVV
GVEPRPGGQNDSQQGQLEENNNRFISVDEDSSGNQEEQEEDEEHAGEQDEEDEEEEEMDQ
ESDDFDQSDDSSREDEHTHTNSVTNSSSIVDLPVHQLSSPFYTKTTKMKRKLDHGSEVRS
FSLGKKPCKVSEYTSTTGLVPCSATPTTFGDLRAANGQGQQRRRITSVQPPTGLQEWLKM
FQSWSGPEKLLALDELIDSCEPTQVKHMMQVIEPQFQRDFISLLPKELALYVLSFLEPKD
LLQAAQTCRYWRILAEDNLLWREKCKE
EGIDEPLHIKRRKVIKPGFIHSPWKSAYIRQHR
IDTNWRRGELKSPKVLKGHDDHVITCLQFCGNRIVSGSDDNTLKVWSAVTGKCLRTLVGH
TGGVWSSQMRDNIIISGSTDRTLKVWN
AETGECIHTLYGHTSTVRCMHLHEKRVVSGSRD
ATLRVWD
IETGQCLHVLMGHVAAVRCVQYDGRRVVSGAYDFMVKVWDPETETCLHTLQGH
TNRVYSLQFDGIHVVSGSLDTSIRVWD
VETGNCIHTLTGHQSLTSGMELKDNILVSGNAD
STVKIWD
IKTGQCLQTLQGPNKHQSAVTCLQFNKNFVITSSDDGTVKLWDLKTGEFIRNL
VTLESGGSGGVVWRIRASNTKLVCAVGSRNGTEETKLLVLDFDVDMK
Sequence length 707
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Constitutive Signaling by NOTCH1 PEST Domain Mutants
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Alveolar rhabdomyosarcoma Likely pathogenic rs149680468 RCV006253762
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer Pathogenic rs867384286, rs1737970426 RCV006254006
RCV001293827
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay, hypotonia, and impaired language Pathogenic; Likely pathogenic rs2126479012, rs2126515961, rs2126459625, rs2126497313, rs140856583, rs2126459661, rs2530191471, rs2530775982, rs2530234915, rs2530127005 RCV002279905
RCV002279906
RCV002279907
RCV002279908
RCV002279909
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Likely pathogenic rs149680468 RCV006253764
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Conflicting classifications of pathogenicity; - ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18485478, 19794083, 27229929
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 14507635, 22473991, 25269767, 29219616, 30642944
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 14507635
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 28424412
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer CGI_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24360397, 26575021, 29633504, 31534970
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 23685749
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only