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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ERCC1-CTPS2 (FusionGDB2 ID:HG2067TG56474)

Fusion Gene Summary for ERCC1-CTPS2

check button Fusion gene summary
Fusion gene informationFusion gene name: ERCC1-CTPS2
Fusion gene ID: hg2067tg56474
HgeneTgene
Gene symbol

ERCC1

CTPS2

Gene ID

2067

56474

Gene nameERCC excision repair 1, endonuclease non-catalytic subunitCTP synthase 2
SynonymsCOFS4|RAD10|UV20-
Cytomap('ERCC1')('CTPS2')

19q13.32

Xp22.2

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)CTP synthase 2CTP synthase IICTP synthetase type 2UTP-ammonia ligase 2cytidine 5'-triphosphate synthetase 2
Modification date2020032920200313
UniProtAcc

P07992

Q9NRF8

Ensembl transtripts involved in fusion geneENST00000013807, ENST00000300853, 
ENST00000340192, ENST00000423698, 
ENST00000588738, ENST00000589165, 
ENST00000591636, 
Fusion gene scores* DoF score7 X 8 X 3=1689 X 9 X 3=243
# samples 89
** MAII scorelog2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/243*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERCC1 [Title/Abstract] AND CTPS2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointERCC1(45977981)-CTPS2(16684855), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABE826026ERCC1chr19

45977981

-CTPS2chrX

16684855

+


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Fusion Gene ORF analysis for ERCC1-CTPS2

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-intronENST00000013807ENST00000359276ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000013807ENST00000380241ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000013807ENST00000443824ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000013807ENST00000483053ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000300853ENST00000359276ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000300853ENST00000380241ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000300853ENST00000443824ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000300853ENST00000483053ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000340192ENST00000359276ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000340192ENST00000380241ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000340192ENST00000443824ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000340192ENST00000483053ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000423698ENST00000359276ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000423698ENST00000380241ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000423698ENST00000443824ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000423698ENST00000483053ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000588738ENST00000359276ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000588738ENST00000380241ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000588738ENST00000443824ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000588738ENST00000483053ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000589165ENST00000359276ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000589165ENST00000380241ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000589165ENST00000443824ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000589165ENST00000483053ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000591636ENST00000359276ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000591636ENST00000380241ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000591636ENST00000443824ERCC1chr19

45977981

-CTPS2chrX

16684855

+
intron-intronENST00000591636ENST00000483053ERCC1chr19

45977981

-CTPS2chrX

16684855

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ERCC1-CTPS2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for ERCC1-CTPS2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:45977981/:16684855)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P07992

CTPS2

Q9NRF8

FUNCTION: [Isoform 1]: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4. {ECO:0000269|PubMed:17273966, ECO:0000269|PubMed:23623389, ECO:0000269|PubMed:24036546}.; FUNCTION: [Isoform 2]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.; FUNCTION: [Isoform 3]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.; FUNCTION: [Isoform 4]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.FUNCTION: Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides. {ECO:0000269|PubMed:10899599, ECO:0000269|PubMed:16179339}.

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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Fusion Gene Sequence for ERCC1-CTPS2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for ERCC1-CTPS2


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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Related Drugs for ERCC1-CTPS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ERCC1-CTPS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERCC1C0007131Non-Small Cell Lung Carcinoma2CTD_human
HgeneERCC1C0043346Xeroderma Pigmentosum2GENOMICS_ENGLAND
HgeneERCC1C1853100CEREBROOCULOFACIOSKELETAL SYNDROME 42CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneERCC1C0001956Alcohol Use Disorder1PSYGENET
HgeneERCC1C0004403Autosome Abnormalities1CTD_human
HgeneERCC1C0006826Malignant Neoplasms1CTD_human
HgeneERCC1C0007873Uterine Cervical Neoplasm1CTD_human
HgeneERCC1C0008625Chromosome Aberrations1CTD_human
HgeneERCC1C0015625Fanconi Anemia1GENOMICS_ENGLAND
HgeneERCC1C0024121Lung Neoplasms1CGI;CTD_human
HgeneERCC1C0024623Malignant neoplasm of stomach1CTD_human
HgeneERCC1C0025202melanoma1CTD_human
HgeneERCC1C0027627Neoplasm Metastasis1CTD_human
HgeneERCC1C0027651Neoplasms1CTD_human
HgeneERCC1C0027654Embryonal Neoplasm1CTD_human
HgeneERCC1C0027658Neoplasms, Germ Cell and Embryonal1CTD_human
HgeneERCC1C0038356Stomach Neoplasms1CTD_human
HgeneERCC1C0039590Testicular Neoplasms1CTD_human
HgeneERCC1C0086692Benign Neoplasm1CTD_human
HgeneERCC1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneERCC1C0153594Malignant neoplasm of testis1CTD_human
HgeneERCC1C0205851Germ cell tumor1CTD_human
HgeneERCC1C0205852Neoplasms, Embryonal and Mixed1CTD_human
HgeneERCC1C0220722Cerebrooculofacioskeletal Syndrome 11ORPHANET
HgeneERCC1C0242379Malignant neoplasm of lung1CGI;CTD_human
HgeneERCC1C0274861Arsenic Poisoning, Inorganic1CTD_human
HgeneERCC1C0274862Nervous System, Organic Arsenic Poisoning1CTD_human
HgeneERCC1C0311375Arsenic Poisoning1CTD_human
HgeneERCC1C0740345Germ Cell Cancer1CTD_human
HgeneERCC1C0751038Cockayne Syndrome, Type II1ORPHANET
HgeneERCC1C0751364Cancer, Embryonal1CTD_human
HgeneERCC1C0751365Cancer, Embryonal and Mixed1CTD_human
HgeneERCC1C0751851Arsenic Encephalopathy1CTD_human
HgeneERCC1C0751852Arsenic Induced Polyneuropathy1CTD_human
HgeneERCC1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneERCC1C1720811Tumor of Rete Testis1CTD_human
HgeneERCC1C1859312CAMFAK syndrome1ORPHANET
HgeneERCC1C2931277Pena Shokeir syndrome Type 21ORPHANET
HgeneERCC1C2931822Nasopharyngeal carcinoma1CTD_human
HgeneERCC1C4048328cervical cancer1CTD_human
HgeneERCC1C4721453Peripheral Nervous System Diseases1CTD_human