FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 13878

FusionGeneSummary for FREM2_QKI

check button Fusion gene summary
Fusion gene informationFusion gene name: FREM2_QKI
Fusion gene ID: 13878
HgeneTgene
Gene symbol

FREM2

QKI

Gene ID

341640

9444

Gene nameFRAS1 related extracellular matrix protein 2QKI, KH domain containing RNA binding
SynonymsFRASRS2Hqk|QK|QK1|QK3|hqkI
Cytomap

13q13.3

6q26

Type of geneprotein-codingprotein-coding
DescriptionFRAS1-related extracellular matrix protein 2ECM3 homologprotein quakingQKI/LOC100132735 fusionRNA binding protein HQKhomolog of mouse quaking QKI (KH domain RNA binding protein)quaking homolog, KH domain RNA binding
Modification date2018051920180522
UniProtAcc

Q5SZK8

Q96PU8

Ensembl transtripts involved in fusion geneENST00000280481, ENST00000482551, 
ENST00000275262, ENST00000392127, 
ENST00000453779, ENST00000361752, 
ENST00000361195, ENST00000424802, 
Fusion gene scores* DoF score3 X 3 X 3=2713 X 14 X 6=1092
# samples 318
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(18/1092*10)=-2.60090404459018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FREM2 [Title/Abstract] AND QKI [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

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
ChiTaRS3.1AA255532FREM2chr13

39459954

-QKIchr6

163992454

-
* 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
3UTR-intronENST00000280481ENST00000275262FREM2chr13

39459954

-QKIchr6

163992454

-
3UTR-intronENST00000280481ENST00000392127FREM2chr13

39459954

-QKIchr6

163992454

-
3UTR-intronENST00000280481ENST00000453779FREM2chr13

39459954

-QKIchr6

163992454

-
3UTR-3UTRENST00000280481ENST00000361752FREM2chr13

39459954

-QKIchr6

163992454

-
3UTR-intronENST00000280481ENST00000361195FREM2chr13

39459954

-QKIchr6

163992454

-
3UTR-intronENST00000280481ENST00000424802FREM2chr13

39459954

-QKIchr6

163992454

-
intron-intronENST00000482551ENST00000275262FREM2chr13

39459954

-QKIchr6

163992454

-
intron-intronENST00000482551ENST00000392127FREM2chr13

39459954

-QKIchr6

163992454

-
intron-intronENST00000482551ENST00000453779FREM2chr13

39459954

-QKIchr6

163992454

-
intron-3UTRENST00000482551ENST00000361752FREM2chr13

39459954

-QKIchr6

163992454

-
intron-intronENST00000482551ENST00000361195FREM2chr13

39459954

-QKIchr6

163992454

-
intron-intronENST00000482551ENST00000424802FREM2chr13

39459954

-QKIchr6

163992454

-

Top

FusionProtFeatures for FREM2_QKI


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FREM2

Q5SZK8

QKI

Q96PU8

Extracellular matrix protein required for maintenance ofthe integrity of the skin epithelium and for maintenance of renalepithelia. May be required for epidermal adhesion.{ECO:0000269|PubMed:15838507}.

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


Top

FusionGeneSequence for FREM2_QKI


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).

Top

FusionGenePPI for FREM2_QKI


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


Top

RelatedDrugs for FREM2_QKI


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

Top

RelatedDiseases for FREM2_QKI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFREM2C0265233Cryptophthalmos syndrome2CTD_human;ORPHANET;UNIPROT
TgeneQKIC0036341Schizophrenia5PSYGENET
TgeneQKIC0017638Glioma1CTD_human
TgeneQKIC0041696Unipolar Depression1PSYGENET
TgeneQKIC1269683Major Depressive Disorder1PSYGENET