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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 13222

FusionGeneSummary for FBXW7_KLF12

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXW7_KLF12
Fusion gene ID: 13222
HgeneTgene
Gene symbol

FBXW7

KLF12

Gene ID

55294

11278

Gene nameF-box and WD repeat domain containing 7Kruppel like factor 12
SynonymsAGO|CDC4|FBW6|FBW7|FBX30|FBXO30|FBXW6|SEL-10|SEL10|hAgo|hCdc4AP-2rep|AP2REP|HSPC122
Cytomap

4q31.3

13q22.1

Type of geneprotein-codingprotein-coding
DescriptionF-box/WD repeat-containing protein 7F-box and WD repeat domain containing 7, E3 ubiquitin protein ligaseF-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)F-box protein FBW7F-box protein FBX30F-box protein SEL-10archipelagohomolog ofKrueppel-like factor 12AP-2 repressorAP-2rep transcription factorKLF12 zinc finger transcriptional repressortranscriptional repressor AP-2rep
Modification date2018052720180523
UniProtAcc

Q969H0

Q9Y4X4

Ensembl transtripts involved in fusion geneENST00000281708, ENST00000603548, 
ENST00000604872, ENST00000296555, 
ENST00000263981, ENST00000393956, 
ENST00000603841, ENST00000604095, 
ENST00000377669, ENST00000377666, 
ENST00000472022, 
Fusion gene scores* DoF score9 X 5 X 7=3159 X 10 X 4=360
# samples 1011
** MAII scorelog2(10/315*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBXW7 [Title/Abstract] AND KLF12 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFBXW7

GO:0016567

protein ubiquitination

12354302|15103331

HgeneFBXW7

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

15103331|17434132

HgeneFBXW7

GO:0031398

positive regulation of protein ubiquitination

12628165

HgeneFBXW7

GO:0045741

positive regulation of epidermal growth factor-activated receptor activity

20208556

HgeneFBXW7

GO:0050821

protein stabilization

20208556

HgeneFBXW7

GO:0051443

positive regulation of ubiquitin-protein transferase activity

12628165

HgeneFBXW7

GO:1901800

positive regulation of proteasomal protein catabolic process

23858059

HgeneFBXW7

GO:1903378

positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway

23858059

HgeneFBXW7

GO:2000060

positive regulation of ubiquitin-dependent protein catabolic process

20208556

TgeneKLF12

GO:0000122

negative regulation of transcription by RNA polymerase II

16615998


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AI133397FBXW7chr4

153250761

+KLF12chr13

74683666

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000281708ENST00000377669FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000281708ENST00000377666FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000281708ENST00000472022FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000603548ENST00000377669FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000603548ENST00000377666FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000603548ENST00000472022FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000604872ENST00000377669FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000604872ENST00000377666FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000604872ENST00000472022FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000296555ENST00000377669FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000296555ENST00000377666FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000296555ENST00000472022FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000263981ENST00000377669FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000263981ENST00000377666FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000263981ENST00000472022FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000393956ENST00000377669FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000393956ENST00000377666FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000393956ENST00000472022FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000603841ENST00000377669FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000603841ENST00000377666FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000603841ENST00000472022FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000604095ENST00000377669FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000604095ENST00000377666FBXW7chr4

153250761

+KLF12chr13

74683666

-
intron-intronENST00000604095ENST00000472022FBXW7chr4

153250761

+KLF12chr13

74683666

-

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FusionProtFeatures for FBXW7_KLF12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXW7

Q969H0

KLF12

Q9Y4X4

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediatesthe ubiquitination and subsequent proteasomal degradation oftarget proteins. Recognizes and binds phosphorylatedsites/phosphodegrons within target proteins and thereafter bringthem 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, MCL1,and probably PSEN1 (PubMed:11565034, PubMed:12354302,PubMed:11585921, PubMed:15103331, PubMed:14739463,PubMed:17558397, PubMed:17873522, PubMed:22608923,PubMed:29149593, PubMed:25775507, PubMed:28007894). Acts as anegative regulator of JNK signaling by binding to phosphorylatedJUN and promoting its ubiquitination and subsequent degradation(PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitinationand subsequent degradation of NFE2L1 (By similarity). Involved inbone homeostasis and negative regulation of osteoclastdifferentiation (PubMed:29149593). {ECO:0000250|UniProtKB:Q8VBV4,ECO:0000269|PubMed:11565034, ECO:0000269|PubMed:11585921,ECO:0000269|PubMed:14739463, ECO:0000269|PubMed:15103331,ECO:0000269|PubMed:17434132, ECO:0000269|PubMed:17558397,ECO:0000269|PubMed:17873522, ECO:0000269|PubMed:22608923,ECO:0000269|PubMed:25775507, ECO:0000269|PubMed:28007894,ECO:0000269|PubMed:29149593, ECO:0000305|PubMed:12354302}. Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alphagene promoter.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for FBXW7_KLF12


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for FBXW7_KLF12


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for FBXW7_KLF12


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FBXW7_KLF12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBXW7C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human
HgeneFBXW7C0007117Basal cell carcinoma1CTD_human
HgeneFBXW7C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneFBXW7C0014170Endometrial Neoplasms1CTD_human
HgeneFBXW7C0017638Glioma1CTD_human
HgeneFBXW7C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneFBXW7C0919532Genomic Instability1CTD_human
HgeneFBXW7C1458155Mammary Neoplasms1CTD_human
TgeneKLF12C0036341Schizophrenia1CTD_human
TgeneKLF12C0236969Substance-Related Disorders1CTD_human