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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: 11971

FusionGeneSummary for ERCC1_CEACAM5

check button Fusion gene summary
Fusion gene informationFusion gene name: ERCC1_CEACAM5
Fusion gene ID: 11971
HgeneTgene
Gene symbol

ERCC1

CEACAM5

Gene ID

2067

1048

Gene nameERCC excision repair 1, endonuclease non-catalytic subunitcarcinoembryonic antigen related cell adhesion molecule 5
SynonymsCOFS4|RAD10|UV20CD66e|CEA
Cytomap

19q13.32

19q13.2

Type of geneprotein-codingprotein-coding
DescriptionDNA excision repair protein ERCC-1excision repair cross-complementation group 1excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)carcinoembryonic antigen-related cell adhesion molecule 5meconium antigen 100
Modification date2018052320180523
UniProtAcc

P07992

P06731

Ensembl transtripts involved in fusion geneENST00000300853, ENST00000423698, 
ENST00000588738, ENST00000340192, 
ENST00000591636, ENST00000589165, 
ENST00000013807, 
ENST00000398599, 
ENST00000221992, ENST00000405816, 
Fusion gene scores* DoF score5 X 6 X 2=604 X 3 X 3=36
# samples 64
** MAII scorelog2(6/60*10)=0log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ERCC1 [Title/Abstract] AND CEACAM5 [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
HgeneERCC1

GO:0006289

nucleotide-excision repair

3290851

TgeneCEACAM5

GO:0010832

negative regulation of myotube differentiation

8408226|10931872

TgeneCEACAM5

GO:0034109

homotypic cell-cell adhesion

10864933

TgeneCEACAM5

GO:0043066

negative regulation of apoptotic process

11448920

TgeneCEACAM5

GO:2000811

negative regulation of anoikis

10910050


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
TCGALDLUADTCGA-78-8660-01AERCC1chr19

45981994

-CEACAM5chr19

42231154

+
* 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
intron-3CDSENST00000300853ENST00000398599ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000300853ENST00000221992ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000300853ENST00000405816ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
5UTR-3CDSENST00000423698ENST00000398599ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
5UTR-3CDSENST00000423698ENST00000221992ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
5UTR-3CDSENST00000423698ENST00000405816ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000588738ENST00000398599ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000588738ENST00000221992ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000588738ENST00000405816ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000340192ENST00000398599ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000340192ENST00000221992ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000340192ENST00000405816ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000591636ENST00000398599ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000591636ENST00000221992ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000591636ENST00000405816ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000589165ENST00000398599ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000589165ENST00000221992ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000589165ENST00000405816ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000013807ENST00000398599ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000013807ENST00000221992ERCC1chr19

45981994

-CEACAM5chr19

42231154

+
intron-3CDSENST00000013807ENST00000405816ERCC1chr19

45981994

-CEACAM5chr19

42231154

+

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FusionProtFeatures for ERCC1_CEACAM5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ERCC1

P07992

CEACAM5

P06731

Isoform 1: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incisionduring DNA repair. Responsible, in conjunction with SLX4, for thefirst step in the repair of interstrand cross-links (ICL).Participates in the processing of anaphase bridge-generating DNAstructures, which consist in incompletely processed DNA lesionsarising during S or G2 phase, and can result in cytokinesisfailure. Also required for homology-directed repair (HDR) of DNAdouble-strand breaks, in conjunction with SLX4. Cell surface glycoprotein that plays a role in celladhesion, intracellular signaling and tumor progression(PubMed:2803308, PubMed:10910050, PubMed:10864933). Mediateshomophilic and heterophilic cell adhesion with othercarcinoembryonic antigen-related cell adhesion molecules, such asCEACAM6 (PubMed:2803308). Plays a role as an oncogene by promotingtumor progression; induces resistance to anoikis of colorectalcarcinoma cells (PubMed:10910050). {ECO:0000269|PubMed:10864933,ECO:0000269|PubMed:10910050, ECO:0000269|PubMed:2803308}. (Microbial infection) Receptor for E.coli Dr adhesins.Binding of E.coli Dr adhesins leads to dissociation of thehomodimer. {ECO:0000269|PubMed:18086185}.

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 ERCC1_CEACAM5


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 ERCC1_CEACAM5


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
ERCC1UBL7, XPA, ERCC4, SLX4, SLX1B, FANCG, GTF2H1, TAF6, TAF7, TAF10, TAF12, TBP, POLR2A, SLX1A, MSH2, MKRN3, VPS37B, TRMT2B, USHBP1, SLX4IP, MAGIX, UHRF1, ACAT1, C15orf40, TOPBP1, TWF2, APP, USP45, CDC5L, MUS81, EGFR, ZFC3H1, RPA1, RPA2, RPA3, SPTA1CEACAM5EWSR1, CD209, CEACAM1, CEACAM6, UQCC2


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 ERCC1_CEACAM5


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 ERCC1_CEACAM5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERCC1C0007131Non-Small Cell Lung Carcinoma2CTD_human
HgeneERCC1C0001956alcohol use disorder1PSYGENET
HgeneERCC1C0007873Uterine Cervical Neoplasm1CTD_human
HgeneERCC1C0008625Chromosome Aberrations1CTD_human
HgeneERCC1C0025202melanoma1CTD_human
HgeneERCC1C0027627Neoplasm Metastasis1CTD_human
HgeneERCC1C0027658Neoplasms, Germ Cell and Embryonal1CTD_human
HgeneERCC1C0031117Peripheral Neuropathy1CTD_human
HgeneERCC1C0038356Stomach Neoplasms1CTD_human
HgeneERCC1C0039590Testicular Neoplasms1CTD_human
HgeneERCC1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneERCC1C0311375Arsenic Poisoning1CTD_human
HgeneERCC1C1853100CEREBROOCULOFACIOSKELETAL SYNDROME 41CTD_human;UNIPROT
HgeneERCC1C2931822Nasopharyngeal carcinoma1CTD_human
TgeneCEACAM5C0000786Spontaneous abortion1CTD_human