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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: 4646

FusionGeneSummary for C11orf80_EFEMP2

check button Fusion gene summary
Fusion gene informationFusion gene name: C11orf80_EFEMP2
Fusion gene ID: 4646
HgeneTgene
Gene symbol

C11orf80

EFEMP2

Gene ID

79703

30008

Gene namechromosome 11 open reading frame 80EGF containing fibulin extracellular matrix protein 2
SynonymsTOP6BL|TOPOVIBLARCL1B|FBLN4|MBP1|UPH1
Cytomap

11q13.2

11q13.1

Type of geneprotein-codingprotein-coding
Descriptiontype 2 DNA topoisomerase 6 subunit B-liketype 2 DNA topoisomerase VI subunit B-likeEGF-containing fibulin-like extracellular matrix protein 2EGF containing fibulin like extracellular matrix protein 2FIBL-4fibulin 4mutant p53 binding protein 1
Modification date2018052320180522
UniProtAcc

O95967

Ensembl transtripts involved in fusion geneENST00000346672, ENST00000360962, 
ENST00000527634, ENST00000540737, 
ENST00000532565, ENST00000525449, 
ENST00000527368, 
ENST00000528176, 
ENST00000307998, ENST00000532648, 
Fusion gene scores* DoF score10 X 5 X 6=3001 X 1 X 1=1
# samples 111
** MAII scorelog2(11/300*10)=-1.44745897697122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: C11orf80 [Title/Abstract] AND EFEMP2 [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
TCGALDBRCATCGA-OL-A5D7-01AC11orf80chr11

66595835

+EFEMP2chr11

65637708

-
* 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-shiftENST00000346672ENST00000528176C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000346672ENST00000307998C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
5CDS-intronENST00000346672ENST00000532648C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000360962ENST00000528176C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000360962ENST00000307998C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
5CDS-intronENST00000360962ENST00000532648C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000527634ENST00000528176C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000527634ENST00000307998C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
5CDS-intronENST00000527634ENST00000532648C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000540737ENST00000528176C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000540737ENST00000307998C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
5CDS-intronENST00000540737ENST00000532648C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000532565ENST00000528176C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000532565ENST00000307998C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
5CDS-intronENST00000532565ENST00000532648C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000525449ENST00000528176C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
Frame-shiftENST00000525449ENST00000307998C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
5CDS-intronENST00000525449ENST00000532648C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
intron-3CDSENST00000527368ENST00000528176C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
intron-3CDSENST00000527368ENST00000307998C11orf80chr11

66595835

+EFEMP2chr11

65637708

-
intron-intronENST00000527368ENST00000532648C11orf80chr11

66595835

+EFEMP2chr11

65637708

-

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FusionProtFeatures for C11orf80_EFEMP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C11orf80

EFEMP2

O95967

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}.

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 C11orf80_EFEMP2


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 C11orf80_EFEMP2


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
C11orf80EFEMP2FAM107A, PLSCR4, SGTB, ZNF263, CATSPER1, PIDD1, PLSCR1, CCNK, BAG6, AQP1, SGTA, LINGO1, GLRX3, FAM124B, APEX2, RIBC2, CCND3, COL8A1, UBQLN1, FAM115A, HOXA1, ZNF426, RHPN1, ZNF638, RHOXF2, HHEX, IL16, TP53, ATXN7, CACNA1A, NEDD4L, UBQLN4, ATXN1, ATN1, GFI1B, RERE, NOS3, DGCR6, MEOX2, PTGER3, STK16, CREB5, HDAC4, RBPMS, NUFIP2, CCDC33, C5orf24, LCE2D, LCE3C, FAM74A4


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 C11orf80_EFEMP2


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 C11orf80_EFEMP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEFEMP2C3280798CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB3UNIPROT
TgeneEFEMP2C0033578Prostatic Neoplasms1CTD_human