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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:SEPT9-TANC2 (FusionGDB2 ID:108)

Fusion Gene Summary for SEPT9-TANC2

check button Fusion gene summary
Fusion gene informationFusion gene name: SEPT9-TANC2
Fusion gene ID: 108
HgeneTgene
Gene symbol

SEPT9

TANC2

Gene ID

10801

26115

Gene nameseptin 9tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
SynonymsAF17q25|MSF|MSF1|NAPB|PNUTL4|SEPT9|SINT1|SeptD1ROLSA|rols
Cytomap

17q25.3

17q23.2-q23.3

Type of geneprotein-codingprotein-coding
Descriptionseptin-9MLL septin-like fusion protein MSF-AOv/Br septinovarian/breast septinseptin D1protein TANC2putative ankyrin-repeat containing proteinrolling pebbles homolog Btetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2
Modification date2020032820200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000427177, ENST00000591198, 
ENST00000449803, ENST00000431235, 
ENST00000329047, ENST00000590294, 
ENST00000588690, ENST00000423034, 
ENST00000427674, ENST00000592420, 
ENST00000585930, ENST00000541152, 
ENST00000592481, ENST00000591088, 
ENST00000592951, ENST00000590917, 
ENST00000427180, 		ENST00000424789, 
ENST00000389520, 
Fusion gene scores* DoF score31 X 14 X 18=781219 X 18 X 6=2052
# samples 4121
** MAII scorelog2(41/7812*10)=-4.25199613438135
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(21/2052*10)=-3.28856949794093
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEPT9 [Title/Abstract] AND TANC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSEPT9(75277636)-TANC2(61457079), # samples:3
Anticipated loss of major functional domain due to fusion event.SEPT9-TANC2 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across SEPT9 (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 TANC2 (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-E2-A1B0-01ASEPT9chr17

75277636

+TANC2chr17

61457079

+
ChimerDB4BRCATCGA-E2-A1B0-01ASEPT9chr17

75277636

+TANC2chr17

61457079

+
ChimerDB4BRCATCGA-E2-A1B0-01ASEPT9chr17

75284292

+TANC2chr17

61457079

+
ChimerDB4BRCATCGA-E2-A1B0-01ASEPT9chr17

75277636

-TANC2chr17

61457079

+


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Fusion Gene ORF analysis for SEPT9-TANC2

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-shiftENST00000427177ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
Frame-shiftENST00000427177ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
Frame-shiftENST00000591198ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
Frame-shiftENST00000591198ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000449803ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000449803ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000431235ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000431235ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000329047ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000329047ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000590294ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000590294ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000588690ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000588690ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000423034ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000423034ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000427674ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000427674ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000592420ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000592420ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000585930ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000585930ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000541152ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000541152ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000592481ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000592481ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000591088ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000591088ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000592951ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000592951ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000590917ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000590917ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000427180ENST00000424789SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000427180ENST00000389520SEPT9chr17

75277636

+TANC2chr17

61457079

+
intron-3CDSENST00000427177ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000427177ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000591198ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000591198ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
5UTR-3CDSENST00000449803ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
5UTR-3CDSENST00000449803ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
5UTR-3CDSENST00000431235ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
5UTR-3CDSENST00000431235ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000329047ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000329047ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000590294ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000590294ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000588690ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000588690ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000423034ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000423034ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000427674ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000427674ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000592420ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000592420ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000585930ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000585930ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000541152ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000541152ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000592481ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000592481ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000591088ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000591088ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000592951ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000592951ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000590917ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000590917ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000427180ENST00000424789SEPT9chr17

75284292

+TANC2chr17

61457079

+
intron-3CDSENST00000427180ENST00000389520SEPT9chr17

75284292

+TANC2chr17

61457079

+

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 SEPT9-TANC2


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)
SEPT9chr1775284296+TANC2chr1761457078+0.0465770250.95342296
SEPT9chr1775277636+TANC2chr1761457078+1.81E-050.9999819
SEPT9chr1775284296+TANC2chr1761457078+0.0465770250.95342296
SEPT9chr1775277636+TANC2chr1761457078+1.81E-050.9999819

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 SEPT9-TANC2


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 SEPT9-TANC2


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 SEPT9-TANC2


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 SEPT9-TANC2


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 SEPT9-TANC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTANC2C1535926Neurodevelopmental Disorders2CTD_human;GENOMICS_ENGLAND
TgeneTANC2C0014544Epilepsy1GENOMICS_ENGLAND
TgeneTANC2C0036572Seizures1GENOMICS_ENGLAND
TgeneTANC2C3714756Intellectual Disability1GENOMICS_ENGLAND