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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: 4879

FusionGeneSummary for C1orf56_CDC42SE1

check button Fusion gene summary
Fusion gene informationFusion gene name: C1orf56_CDC42SE1
Fusion gene ID: 4879
HgeneTgene
Gene symbol

C1orf56

CDC42SE1

Gene ID

54964

56882

Gene namechromosome 1 open reading frame 56CDC42 small effector 1
SynonymsMENTSCIP1|SPEC1
Cytomap

1q21.3

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionprotein MENTmethylated in normal thymocytes proteinCDC42 small effector protein 11300002M12RikCDC42-binding protein SCIP1signaling molecule SPEC1 betasmall effector of CDC42 protein 1small protein effector 1 of Cdc42
Modification date2018032920180523
UniProtAcc

Q9NRR8

Ensembl transtripts involved in fusion geneENST00000368926, ENST00000465135, 
ENST00000439374, ENST00000540998, 
ENST00000357235, ENST00000492796, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 5 X 4=120
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C1orf56 [Title/Abstract] AND CDC42SE1 [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
ChiTaRS3.1AI741399C1orf56chr1

151023696

-CDC42SE1chr1

151023917

+
* 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-3UTRENST00000368926ENST00000439374C1orf56chr1

151023696

-CDC42SE1chr1

151023917

+
3UTR-3UTRENST00000368926ENST00000540998C1orf56chr1

151023696

-CDC42SE1chr1

151023917

+
3UTR-3UTRENST00000368926ENST00000357235C1orf56chr1

151023696

-CDC42SE1chr1

151023917

+
3UTR-intronENST00000368926ENST00000492796C1orf56chr1

151023696

-CDC42SE1chr1

151023917

+
intron-3UTRENST00000465135ENST00000439374C1orf56chr1

151023696

-CDC42SE1chr1

151023917

+
intron-3UTRENST00000465135ENST00000540998C1orf56chr1

151023696

-CDC42SE1chr1

151023917

+
intron-3UTRENST00000465135ENST00000357235C1orf56chr1

151023696

-CDC42SE1chr1

151023917

+
intron-intronENST00000465135ENST00000492796C1orf56chr1

151023696

-CDC42SE1chr1

151023917

+

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FusionProtFeatures for C1orf56_CDC42SE1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C1orf56

CDC42SE1

Q9NRR8

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Probably involved in the organization of the actincytoskeleton by acting downstream of CDC42, inducing actinfilament assembly. Alters CDC42-induced cell shape changes. Inactivated T-cells, may play a role in CDC42-mediated F-actinaccumulation at the immunological synapse. May play a role inearly contractile events in phagocytosis in macrophages.{ECO:0000269|PubMed:10816584, ECO:0000269|PubMed:15840583,ECO:0000269|PubMed:17045588}.

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 C1orf56_CDC42SE1


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 C1orf56_CDC42SE1


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 C1orf56_CDC42SE1


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 C1orf56_CDC42SE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCDC42SE1C0023893Liver Cirrhosis, Experimental1CTD_human