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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:NCSTN-TMBIM6 (FusionGDB2 ID:57906)

Fusion Gene Summary for NCSTN-TMBIM6

check button Fusion gene summary
Fusion gene informationFusion gene name: NCSTN-TMBIM6
Fusion gene ID: 57906
HgeneTgene
Gene symbol

NCSTN

TMBIM6

Gene ID

23385

7009

Gene namenicastrintransmembrane BAX inhibitor motif containing 6
SynonymsATAG1874BAXI1|BI-1|TEGT
Cytomap

1q23.2

12q13.12

Type of geneprotein-codingprotein-coding
Descriptionnicastrinanterior pharynx-defective 2bax inhibitor 1testis enhanced gene transcripttestis-enhanced gene transcript proteintransmembrane BAX inhibitor motif-containing protein 6
Modification date2020032720200313
UniProtAcc

Q92542

.
Ensembl transtripts involved in fusion geneENST00000294785, ENST00000535857, 
ENST00000368063, ENST00000368065, 
ENST00000392212, ENST00000459963, 
ENST00000267115, ENST00000395006, 
ENST00000423828, ENST00000547798, 
ENST00000548589, ENST00000549385, 
ENST00000552699, 
Fusion gene scores* DoF score6 X 7 X 4=16818 X 17 X 6=1836
# samples 722
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/1836*10)=-3.06099062988915
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NCSTN [Title/Abstract] AND TMBIM6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNCSTN(160313271)-TMBIM6(50153004), # 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
HgeneNCSTN

GO:0006509

membrane protein ectodomain proteolysis

15274632

HgeneNCSTN

GO:0016485

protein processing

15274632

HgeneNCSTN

GO:0042982

amyloid precursor protein metabolic process

25043039|26280335

HgeneNCSTN

GO:0043085

positive regulation of catalytic activity

15274632

TgeneTMBIM6

GO:0010523

negative regulation of calcium ion transport into cytosol

26582200

TgeneTMBIM6

GO:0032091

negative regulation of protein binding

19328063

TgeneTMBIM6

GO:0033119

negative regulation of RNA splicing

19328063

TgeneTMBIM6

GO:0034620

cellular response to unfolded protein

19328063

TgeneTMBIM6

GO:0060702

negative regulation of endoribonuclease activity

19328063

TgeneTMBIM6

GO:1902065

response to L-glutamate

21075086

TgeneTMBIM6

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

21075086

TgeneTMBIM6

GO:1903298

negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway

21075086

TgeneTMBIM6

GO:2001234

negative regulation of apoptotic signaling pathway

21075086


check buttonFusion gene breakpoints across NCSTN (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 TMBIM6 (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
ChimerDB4BRCATCGA-EW-A1OW-01ANCSTNchr1

160313271

+TMBIM6chr12

50153004

+


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Fusion Gene ORF analysis for NCSTN-TMBIM6

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
5CDS-intronENST00000294785ENST00000267115NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000294785ENST00000395006NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000294785ENST00000423828NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000294785ENST00000547798NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000294785ENST00000548589NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000294785ENST00000549385NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000294785ENST00000552699NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000535857ENST00000267115NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000535857ENST00000395006NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000535857ENST00000423828NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000535857ENST00000547798NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000535857ENST00000548589NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000535857ENST00000549385NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5CDS-intronENST00000535857ENST00000552699NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5UTR-intronENST00000368063ENST00000267115NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5UTR-intronENST00000368063ENST00000395006NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5UTR-intronENST00000368063ENST00000423828NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5UTR-intronENST00000368063ENST00000547798NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5UTR-intronENST00000368063ENST00000548589NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5UTR-intronENST00000368063ENST00000549385NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
5UTR-intronENST00000368063ENST00000552699NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000368065ENST00000267115NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000368065ENST00000395006NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000368065ENST00000423828NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000368065ENST00000547798NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000368065ENST00000548589NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000368065ENST00000549385NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000368065ENST00000552699NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000392212ENST00000267115NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000392212ENST00000395006NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000392212ENST00000423828NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000392212ENST00000547798NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000392212ENST00000548589NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000392212ENST00000549385NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000392212ENST00000552699NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000459963ENST00000267115NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000459963ENST00000395006NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000459963ENST00000423828NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000459963ENST00000547798NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000459963ENST00000548589NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000459963ENST00000549385NCSTNchr1

160313271

+TMBIM6chr12

50153004

+
intron-intronENST00000459963ENST00000552699NCSTNchr1

160313271

+TMBIM6chr12

50153004

+

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 NCSTN-TMBIM6


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)
NCSTNchr1160313271+TMBIM6chr1250153003+0.139520990.86047906
NCSTNchr1160313271+TMBIM6chr1250153003+0.139520990.86047906

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.
genomic feature of top 1%

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Fusion Protein Features for NCSTN-TMBIM6


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/:160313271/:50153004)
- 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
NCSTN

Q92542

.
FUNCTION: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:12679784, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 NCSTN-TMBIM6


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 NCSTN-TMBIM6


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 NCSTN-TMBIM6


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 NCSTN-TMBIM6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource