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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:NOTCH2NL-PARP1 (FusionGDB2 ID:59397)

Fusion Gene Summary for NOTCH2NL-PARP1

check button Fusion gene summary
Fusion gene informationFusion gene name: NOTCH2NL-PARP1
Fusion gene ID: 59397
HgeneTgene
Gene symbol

NOTCH2NL

PARP1

Gene ID

100996763

142

Gene namenotch 2 N-terminal like Bpoly(ADP-ribose) polymerase 1
SynonymsN2N|NOTCH2NL|NOTCH2NLAADPRT|ADPRT 1|ADPRT1|ARTD1|PARP|PARP-1|PPOL|pADPRT-1
Cytomap

1q21.2

1q42.12

Type of geneprotein-codingprotein-coding
Descriptionnotch homolog 2 N-terminal-like protein BNotch homolog 2 N-terminal-like protein Anotch homolog 2 N-terminal-like proteinpoly [ADP-ribose] polymerase 1ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)ADP-ribosyltransferase NAD(+)ADP-ribosyltransferase diphtheria toxin-like 1DNA ADP-ribosyltransferase PARP1NAD(+) ADP-ribosyltransferase 1poly (ADP-ribose) poly
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000362074, ENST00000344859, 
ENST00000369340, ENST00000479995, 
ENST00000366794, ENST00000490921, 
ENST00000366792, ENST00000366791, 
ENST00000366790, 
Fusion gene scores* DoF score23 X 4 X 14=128812 X 10 X 9=1080
# samples 2212
** MAII scorelog2(22/1288*10)=-2.54955716458996
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/1080*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NOTCH2NL [Title/Abstract] AND PARP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNOTCH2NL(145248894)-PARP1(226570884), # samples:1
Anticipated loss of major functional domain due to fusion event.NOTCH2NL-PARP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NOTCH2NL-PARP1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NOTCH2NL-PARP1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
NOTCH2NL-PARP1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
* 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
HgeneNOTCH2NL

GO:0021987

cerebral cortex development

29561261|29856954|29856955

HgeneNOTCH2NL

GO:0045747

positive regulation of Notch signaling pathway

29856954|29856955

TgenePARP1

GO:0006471

protein ADP-ribosylation

7852410|17396150|26344098|27067600

TgenePARP1

GO:0006915

apoptotic process

15565177

TgenePARP1

GO:0018312

peptidyl-serine ADP-ribosylation

28190768

TgenePARP1

GO:0018424

peptidyl-glutamic acid poly-ADP-ribosylation

19764761

TgenePARP1

GO:0030592

DNA ADP-ribosylation

27471034

TgenePARP1

GO:0032869

cellular response to insulin stimulus

19303849

TgenePARP1

GO:0045944

positive regulation of transcription by RNA polymerase II

11112786

TgenePARP1

GO:0050790

regulation of catalytic activity

25749521

TgenePARP1

GO:0070212

protein poly-ADP-ribosylation

15674325|19470756|25043379

TgenePARP1

GO:0070213

protein auto-ADP-ribosylation

19764761

TgenePARP1

GO:1905168

positive regulation of double-strand break repair via homologous recombination

26344098|30356214

TgenePARP1

GO:1990966

ATP generation from poly-ADP-D-ribose

27257257


check buttonFusion gene breakpoints across NOTCH2NL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PARP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4OVTCGA-24-1469-01ANOTCH2NLchr1

145248894

+PARP1chr1

226570884

-


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Fusion Gene ORF analysis for NOTCH2NL-PARP1

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-shiftENST00000362074ENST00000366794NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000362074ENST00000490921NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000362074ENST00000366792NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000362074ENST00000366791NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000362074ENST00000366790NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
Frame-shiftENST00000344859ENST00000366794NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000344859ENST00000490921NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000344859ENST00000366792NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000344859ENST00000366791NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000344859ENST00000366790NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
Frame-shiftENST00000369340ENST00000366794NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000369340ENST00000490921NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000369340ENST00000366792NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000369340ENST00000366791NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
5CDS-intronENST00000369340ENST00000366790NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
intron-3CDSENST00000479995ENST00000366794NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
intron-intronENST00000479995ENST00000490921NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
intron-intronENST00000479995ENST00000366792NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
intron-intronENST00000479995ENST00000366791NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-
intron-intronENST00000479995ENST00000366790NOTCH2NLchr1

145248894

+PARP1chr1

226570884

-

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 NOTCH2NL-PARP1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for NOTCH2NL-PARP1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 NOTCH2NL-PARP1


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 NOTCH2NL-PARP1


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 NOTCH2NL-PARP1


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 NOTCH2NL-PARP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePARP1C0022658Kidney Diseases2CTD_human
TgenePARP1C0002170Alopecia1CTD_human
TgenePARP1C0002871Anemia1CTD_human
TgenePARP1C0004096Asthma1CTD_human
TgenePARP1C0004153Atherosclerosis1CTD_human
TgenePARP1C0006142Malignant neoplasm of breast1CTD_human;UNIPROT
TgenePARP1C0007786Brain Ischemia1CTD_human
TgenePARP1C0009402Colorectal Carcinoma1CTD_human
TgenePARP1C0009404Colorectal Neoplasms1CTD_human
TgenePARP1C0011603Dermatitis1CTD_human
TgenePARP1C0014518Toxic Epidermal Necrolysis1CTD_human
TgenePARP1C0015697Arterial Fatty Streak1CTD_human
TgenePARP1C0019158Hepatitis1CTD_human
TgenePARP1C0020796Profound Mental Retardation1CTD_human
TgenePARP1C0021368Inflammation1CTD_human
TgenePARP1C0022821Kyphosis deformity of spine1CTD_human
TgenePARP1C0025202melanoma1CTD_human
TgenePARP1C0025363Mental Retardation, Psychosocial1CTD_human
TgenePARP1C0026764Multiple Myeloma1CTD_human
TgenePARP1C0028754Obesity1CTD_human
TgenePARP1C0032285Pneumonia1CTD_human
TgenePARP1C0032300Lobar Pneumonia1CTD_human
TgenePARP1C0033141Cardiomyopathies, Primary1CTD_human
TgenePARP1C0033578Prostatic Neoplasms1CTD_human
TgenePARP1C0034069Pulmonary Fibrosis1CTD_human
TgenePARP1C0036529Myocardial Diseases, Secondary1CTD_human
TgenePARP1C0038325Stevens-Johnson Syndrome1CTD_human
TgenePARP1C0042842Vitamin A Deficiency1CTD_human
TgenePARP1C0086873Pseudopelade1CTD_human
TgenePARP1C0162311Androgenetic Alopecia1CTD_human
TgenePARP1C0242422Parkinsonian Disorders1CTD_human
TgenePARP1C0242423Ramsay Hunt Paralysis Syndrome1CTD_human
TgenePARP1C0263477Female pattern alopecia (disorder)1CTD_human
TgenePARP1C0264956Atheroma1CTD_human
TgenePARP1C0345967Malignant mesothelioma1CTD_human
TgenePARP1C0376358Malignant neoplasm of prostate1CTD_human
TgenePARP1C0678222Breast Carcinoma1CTD_human
TgenePARP1C0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
TgenePARP1C0752098Autosomal Dominant Parkinsonism1CTD_human
TgenePARP1C0752100Autosomal Recessive Parkinsonism1CTD_human
TgenePARP1C0752101Parkinsonism, Experimental1CTD_human
TgenePARP1C0752104Familial Juvenile Parkinsonism1CTD_human
TgenePARP1C0752105Parkinsonism, Juvenile1CTD_human
TgenePARP1C0878544Cardiomyopathies1CTD_human
TgenePARP1C0887898Experimental Lung Inflammation1CTD_human
TgenePARP1C0917798Cerebral Ischemia1CTD_human
TgenePARP1C0917816Mental deficiency1CTD_human
TgenePARP1C1257931Mammary Neoplasms, Human1CTD_human
TgenePARP1C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
TgenePARP1C1458155Mammary Neoplasms1CTD_human
TgenePARP1C1563937Atherogenesis1CTD_human
TgenePARP1C1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
TgenePARP1C2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human
TgenePARP1C2936350Plaque, Atherosclerotic1CTD_human
TgenePARP1C2936351Fibroatheroma1CTD_human
TgenePARP1C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
TgenePARP1C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
TgenePARP1C3714636Pneumonitis1CTD_human
TgenePARP1C3714756Intellectual Disability1CTD_human
TgenePARP1C4083212Alopecia, Male Pattern1CTD_human
TgenePARP1C4704874Mammary Carcinoma, Human1CTD_human
TgenePARP1C4721507Alveolitis, Fibrosing1CTD_human