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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: 4824

FusionGeneSummary for C1QTNF6_RAC2

check button Fusion gene summary
Fusion gene informationFusion gene name: C1QTNF6_RAC2
Fusion gene ID: 4824
HgeneTgene
Gene symbol

C1QTNF6

RAC2

Gene ID

114904

5880

Gene nameC1q and TNF related 6Rac family small GTPase 2
SynonymsCTFP6|CTRP6|ZACRP6EN-7|Gx|HSPC022|p21-Rac2
Cytomap

22q12.3

22q13.1

Type of geneprotein-codingprotein-coding
Descriptioncomplement C1q tumor necrosis factor-related protein 6C1q and tumor necrosis factor related protein 6complement-c1q tumor necrosis factor-related protein 6ras-related C3 botulinum toxin substrate 2Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)small G protein
Modification date2018051920180523
UniProtAcc

Q9BXI9

P15153

Ensembl transtripts involved in fusion geneENST00000397110, ENST00000337843, 
ENST00000470655, ENST00000255836, 
ENST00000249071, ENST00000406508, 
ENST00000405484, ENST00000401529, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 4 X 5=100
# samples 35
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C1QTNF6 [Title/Abstract] AND RAC2 [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
TgeneRAC2

GO:0060263

regulation of respiratory burst

16636067


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
TCGARVSARCTCGA-FX-A3RE-01AC1QTNF6chr22

37581258

-RAC2chr22

37622843

-
* 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
Frame-shitENST00000397110ENST00000249071C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
Frame-shitENST00000397110ENST00000406508C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
In-frameENST00000397110ENST00000405484C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
5CDS-intronENST00000397110ENST00000401529C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
Frame-shitENST00000337843ENST00000249071C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
Frame-shitENST00000337843ENST00000406508C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
Frame-shitENST00000337843ENST00000405484C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
5CDS-intronENST00000337843ENST00000401529C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
5UTR-3CDSENST00000470655ENST00000249071C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
5UTR-3CDSENST00000470655ENST00000406508C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
5UTR-3CDSENST00000470655ENST00000405484C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
5UTR-intronENST00000470655ENST00000401529C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
intron-3CDSENST00000255836ENST00000249071C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
intron-3CDSENST00000255836ENST00000406508C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
intron-3CDSENST00000255836ENST00000405484C1QTNF6chr22

37581258

-RAC2chr22

37622843

-
intron-intronENST00000255836ENST00000401529C1QTNF6chr22

37581258

-RAC2chr22

37622843

-

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FusionProtFeatures for C1QTNF6_RAC2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C1QTNF6

Q9BXI9

RAC2

P15153

Plasma membrane-associated small GTPase which cyclesbetween an active GTP-bound and inactive GDP-bound state. Inactive state binds to a variety of effector proteins to regulatecellular responses, such as secretory processes, phagocytose ofapoptotic cells and epithelial cell polarization. Augments theproduction of reactive oxygen species (ROS) by NADPH oxidase.{ECO:0000269|PubMed:1660188}.

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 C1QTNF6_RAC2


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 C1QTNF6_RAC2


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
C1QTNF6SGTA, PML, ANAPC15, VPS16RAC2CUL1, DEF6, ACTB, DOCK2, NCF2, ICMT, NOS2, ARHGDIB, PAK2, ARHGDIA, CHGB, AFG3L2, VCAM1, ITGA4, CD81, HDAC10, ADAM22, FBXO6, U2AF2, AGAP2, RAC3, DOCK1, ELMO2, RAP1GDS1


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 C1QTNF6_RAC2


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 C1QTNF6_RAC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC1QTNF6C0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneRAC2C0018799Heart Diseases1CTD_human
TgeneRAC2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneRAC2C0024299Lymphoma1CTD_human
TgeneRAC2C0025202melanoma1CTD_human
TgeneRAC2C0349639Juvenile Myelomonocytic Leukemia1CTD_human
TgeneRAC2C1842398Neutrophil Immunodeficiency Syndrome1CTD_human;ORPHANET;UNIPROT