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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: 11863

FusionGeneSummary for EPS15_CC2D1B

check button Fusion gene summary
Fusion gene informationFusion gene name: EPS15_CC2D1B
Fusion gene ID: 11863
HgeneTgene
Gene symbol

EPS15

CC2D1B

Gene ID

2060

200014

Gene nameepidermal growth factor receptor pathway substrate 15coiled-coil and C2 domain containing 1B
SynonymsAF-1P|AF1P|MLLT5-
Cytomap

1p32.3

1p32.3

Type of geneprotein-codingprotein-coding
Descriptionepidermal growth factor receptor substrate 15ALL1 fused gene from chromosome 1protein AF-1pcoiled-coil and C2 domain-containing protein 1BFRE under dual repression-binding protein 2five prime repressor element under dual repression-binding protein 2freud-2
Modification date2018052220180523
UniProtAcc

P42566

Q5T0F9

Ensembl transtripts involved in fusion geneENST00000371730, ENST00000371733, 
ENST00000396122, ENST00000493793, 
ENST00000371586, ENST00000284376, 
ENST00000460261, ENST00000438831, 
Fusion gene scores* DoF score10 X 7 X 8=5603 X 3 X 3=27
# samples 104
** MAII scorelog2(10/560*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EPS15 [Title/Abstract] AND CC2D1B [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
HgeneEPS15

GO:0048268

clathrin coat assembly

12807910


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
TCGALDBLCATCGA-DK-A1A3-01AEPS15chr1

51984871

-CC2D1Bchr1

52811875

-
* 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
5CDS-intronENST00000371730ENST00000371586EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
5CDS-intronENST00000371730ENST00000284376EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
5CDS-intronENST00000371730ENST00000460261EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
5CDS-intronENST00000371730ENST00000438831EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
5CDS-intronENST00000371733ENST00000371586EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
5CDS-intronENST00000371733ENST00000284376EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
5CDS-intronENST00000371733ENST00000460261EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
5CDS-intronENST00000371733ENST00000438831EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
intron-intronENST00000396122ENST00000371586EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
intron-intronENST00000396122ENST00000284376EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
intron-intronENST00000396122ENST00000460261EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
intron-intronENST00000396122ENST00000438831EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
intron-intronENST00000493793ENST00000371586EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
intron-intronENST00000493793ENST00000284376EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
intron-intronENST00000493793ENST00000460261EPS15chr1

51984871

-CC2D1Bchr1

52811875

-
intron-intronENST00000493793ENST00000438831EPS15chr1

51984871

-CC2D1Bchr1

52811875

-

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FusionProtFeatures for EPS15_CC2D1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPS15

P42566

CC2D1B

Q5T0F9

Involved in cell growth regulation. May be involved inthe regulation of mitogenic signals and control of cellproliferation. Involved in the internalization of ligand-induciblereceptors of the receptor tyrosine kinase (RTK) type, inparticular EGFR. Plays a role in the assembly of clathrin-coatedpits (CCPs). Acts as a clathrin adapter required for post-Golgitrafficking. Seems to be involved in CCPs maturation includinginvagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1as DAB2-dependent cargo but not TFR seems to require associationwith DAB2. {ECO:0000269|PubMed:16903783,ECO:0000269|PubMed:18362181, ECO:0000269|PubMed:19458185,ECO:0000269|PubMed:22648170}. Transcription factor that binds specifically to the DRE(dual repressor element) and represses HTR1A gene transcription inneuronal cells. {ECO:0000269|PubMed:19423080}.

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 EPS15_CC2D1B


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 EPS15_CC2D1B


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
EPS15RNF11, SNAP91, AGFG1, NAGPA, STON2, HGS, AP2A2, DNM2, AP2A1, EGFR, CLINT1, EPN1, SCAMP1, STAM2, GRB2, CRK, RAB11FIP2, REPS2, UBE2D1, UBE2D2, UBE2D3, UBE2H, UBE2E1, SLC6A3, PARK2, USP8, CD4, EPS15, OCLN, UBQLN1, UBC, NEDD4, GJA1, TGFB1, FCHO2, ITSN1, ITSN2, ELAVL1, RAD23A, UBQLN2, EPN3, SH3BP4, AP1B1, NUMB, SPG20, TFAP2A, ABL1, AP2B1, IQGAP1, KRT85, KRT1, KRT10, KRT2, AP2M1, KRT14, KRT86, KRT5, KRT6A, KRT16, KRT9, HSPA8, KRT35, HSPA9, KRT17, KRT33B, KRT83, BMP2K, KRT34, KRT82, NONO, KRT38, KRT75, KRT79, PRDX1, KRT36, KRT32, MAP4, HSPA1L, HSPA1B, KRT37, HSPA5, KRT73, AP2S1, NECAP2, TRAF2, MCCC2, KRT4, ACTB, KRT3, VPRBP, TUBB, HIST4H4, PCCB, KRTAP9-3, NECAP1, VSIG8, CCT3, CRKL, FN1, VCAM1, LAPTM5, ITGA4, OPTN, RABL6, EPHA2, CORO7, AGFG2, SLC25A41, AURKA, SPC25, NTRK1, TMEM17, XPO1, CAPZA2, CLTB, CLTC, DBN1, FLNA, GAK, MYH9, PPP1CB, PICALM, PDLIM7, SYNPO, MAPRE1, LIMA1, GTSE1, ANLN, MYO19, MAPK14, AP1G1, MYO6, SPOPL, SGIP1, FCHO1, CDH1, RUNDC3A, LSR, STAMBPL1, CCDC172, OXCT1, MTNR1A, RNF26CC2D1BSPP1, TLN1, UGP2, KLHL40, MDFI, DCTN1, KIFC3, TSNAX, CHMP4B, BMX


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 EPS15_CC2D1B


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 EPS15_CC2D1B


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