FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:NOTCH2NL-PRKACB (FusionGDB2 ID:59401)

Fusion Gene Summary for NOTCH2NL-PRKACB

check button Fusion gene summary
Fusion gene informationFusion gene name: NOTCH2NL-PRKACB
Fusion gene ID: 59401
HgeneTgene
Gene symbol

NOTCH2NL

PRKACB

Gene ID

100996763

5567

Gene namenotch 2 N-terminal like Bprotein kinase cAMP-activated catalytic subunit beta
SynonymsN2N|NOTCH2NL|NOTCH2NLAPKA C-beta|PKACB
Cytomap

1q21.2

1p31.1

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 proteincAMP-dependent protein kinase catalytic subunit betacAMP-dependent protein kinase catalytic beta subunit isoform 4abprotein kinase A catalytic subunit betaprotein kinase, cAMP-dependent, beta catalytic subunitprotein kinase, cAMP-dependent, catalytic,
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000362074, ENST00000344859, 
ENST00000369340, ENST00000479995, 
ENST00000370689, ENST00000370685, 
ENST00000394838, ENST00000370682, 
ENST00000394839, ENST00000370688, 
ENST00000470673, ENST00000370680, 
Fusion gene scores* DoF score23 X 4 X 14=128811 X 8 X 7=616
# samples 2212
** MAII scorelog2(22/1288*10)=-2.54955716458996
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/616*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointNOTCH2NL(145281704)-PRKACB(84700863), # samples:1
Anticipated loss of major functional domain due to fusion event.NOTCH2NL-PRKACB seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NOTCH2NL-PRKACB seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
NOTCH2NL-PRKACB seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
NOTCH2NL-PRKACB seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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

TgenePRKACB

GO:0006468

protein phosphorylation

12420224|21880142


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 PRKACB (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
ChimerDB4Non-CancerTCGA-HU-A4GP-11ANOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+


Top

Fusion Gene ORF analysis for NOTCH2NL-PRKACB

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-shiftENST00000362074ENST00000370689NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000362074ENST00000370685NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000362074ENST00000394838NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000362074ENST00000370682NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000362074ENST00000394839NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
5CDS-intronENST00000362074ENST00000370688NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
5CDS-intronENST00000362074ENST00000470673NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
5CDS-intronENST00000362074ENST00000370680NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000344859ENST00000370689NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000344859ENST00000370685NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000344859ENST00000394838NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000344859ENST00000370682NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000344859ENST00000394839NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
5CDS-intronENST00000344859ENST00000370688NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
5CDS-intronENST00000344859ENST00000470673NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
5CDS-intronENST00000344859ENST00000370680NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000369340ENST00000370689NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000369340ENST00000370685NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000369340ENST00000394838NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000369340ENST00000370682NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
Frame-shiftENST00000369340ENST00000394839NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
5CDS-intronENST00000369340ENST00000370688NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
5CDS-intronENST00000369340ENST00000470673NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
5CDS-intronENST00000369340ENST00000370680NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
intron-3CDSENST00000479995ENST00000370689NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
intron-3CDSENST00000479995ENST00000370685NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
intron-3CDSENST00000479995ENST00000394838NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
intron-3CDSENST00000479995ENST00000370682NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
intron-3CDSENST00000479995ENST00000394839NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
intron-intronENST00000479995ENST00000370688NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
intron-intronENST00000479995ENST00000470673NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+
intron-intronENST00000479995ENST00000370680NOTCH2NLchr1

145281704

+PRKACBchr1

84700863

+

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

Top

Fusion Genomic Features for NOTCH2NL-PRKACB


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)
NOTCH2NLchr1145281704+PRKACBchr184700862+0.0013171030.9986829
NOTCH2NLchr1145281704+PRKACBchr184700862+0.0013171030.9986829

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.

Top

Fusion Protein Features for NOTCH2NL-PRKACB


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


Top

Fusion Gene Sequence for NOTCH2NL-PRKACB


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.

Top

Fusion Gene PPI Analysis for NOTCH2NL-PRKACB


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


Top

Related Drugs for NOTCH2NL-PRKACB


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

Top

Related Diseases for NOTCH2NL-PRKACB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRKACBC0005426Biliary Tract Neoplasm1CTD_human
TgenePRKACBC0009777Conn Adenoma1CTD_human
TgenePRKACBC0010481Cushing Syndrome1CTD_human
TgenePRKACBC0033578Prostatic Neoplasms1CTD_human
TgenePRKACBC0206667Adrenal Cortical Adenoma1CTD_human
TgenePRKACBC0206698Cholangiocarcinoma1CTD_human
TgenePRKACBC0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgenePRKACBC0376358Malignant neoplasm of prostate1CTD_human
TgenePRKACBC0750952Biliary Tract Cancer1CTD_human
TgenePRKACBC3805278Extrahepatic Cholangiocarcinoma1CTD_human