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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: 26293

FusionGeneSummary for PCOLCE_ECHDC1

check button Fusion gene summary
Fusion gene informationFusion gene name: PCOLCE_ECHDC1
Fusion gene ID: 26293
HgeneTgene
Gene symbol

PCOLCE

ECHDC1

Gene ID

5118

55862

Gene nameprocollagen C-endopeptidase enhancerethylmalonyl-CoA decarboxylase 1
SynonymsPCPE|PCPE-1|PCPE1HEL-S-76|MMCD|dJ351K20.2
Cytomap

7q22.1

6q22.33

Type of geneprotein-codingprotein-coding
Descriptionprocollagen C-endopeptidase enhancer 1procollagen C-proteinase enhancer 1procollagen COOH-terminal proteinase enhancer 1procollagen, type 1, COOH-terminal proteinase enhancertype 1 procollagen C-proteinase enhancer proteintype I procollagen COOH-termethylmalonyl-CoA decarboxylaseenoyl CoA hydratase domain containing 1enoyl Coenzyme A hydratase domain containing 1enoyl-CoA hydratase domain-containing protein 1epididymis secretory protein Li 76methylmalonyl-CoA decarboxylase
Modification date2018052220180523
UniProtAcc

Q15113

Q9NTX5

Ensembl transtripts involved in fusion geneENST00000223061, ENST00000496269, 
ENST00000454859, ENST00000474289, 
ENST00000528402, ENST00000454591, 
ENST00000368291, ENST00000309620, 
ENST00000430841, ENST00000368289, 
ENST00000531967, ENST00000488087, 
Fusion gene scores* DoF score3 X 5 X 1=158 X 5 X 5=200
# samples 59
** MAII scorelog2(5/15*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/200*10)=-1.15200309344505
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PCOLCE [Title/Abstract] AND ECHDC1 [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
ChiTaRS3.1BG413523PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
* 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-shiftENST00000223061ENST00000454859PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
Frame-shiftENST00000223061ENST00000474289PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
Frame-shiftENST00000223061ENST00000528402PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
Frame-shiftENST00000223061ENST00000454591PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
In-frameENST00000223061ENST00000368291PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
In-frameENST00000223061ENST00000309620PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
Frame-shiftENST00000223061ENST00000430841PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
In-frameENST00000223061ENST00000368289PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
Frame-shiftENST00000223061ENST00000531967PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
5CDS-intronENST00000223061ENST00000488087PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-3CDSENST00000496269ENST00000454859PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-3CDSENST00000496269ENST00000474289PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-3CDSENST00000496269ENST00000528402PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-3CDSENST00000496269ENST00000454591PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-3CDSENST00000496269ENST00000368291PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-3CDSENST00000496269ENST00000309620PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-3CDSENST00000496269ENST00000430841PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-3CDSENST00000496269ENST00000368289PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-3CDSENST00000496269ENST00000531967PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+
intron-intronENST00000496269ENST00000488087PCOLCEchr7

100205637

-ECHDC1chr6

127636021

+

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FusionProtFeatures for PCOLCE_ECHDC1


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

Q15113

ECHDC1

Q9NTX5

Binds to the C-terminal propeptide of type I procollagenand enhances procollagen C-proteinase activity. C-terminal processed part of PCPE (CT-PCPE) may have anmetalloproteinase inhibitory activity.

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 PCOLCE_ECHDC1


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 PCOLCE_ECHDC1


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 PCOLCE_ECHDC1


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 PCOLCE_ECHDC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePCOLCEC0023890Liver Cirrhosis1CTD_human
HgenePCOLCEC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneECHDC1C0025202melanoma1CTD_human
TgeneECHDC1C4277682Chemical and Drug Induced Liver Injury1CTD_human