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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:TSPAN8-NDUFV2 (FusionGDB2 ID:94131)

Fusion Gene Summary for TSPAN8-NDUFV2

check button Fusion gene summary
Fusion gene informationFusion gene name: TSPAN8-NDUFV2
Fusion gene ID: 94131
HgeneTgene
Gene symbol

TSPAN8

NDUFV2

Gene ID

7103

4729

Gene nametetraspanin 8NADH:ubiquinone oxidoreductase core subunit V2
SynonymsCO-029|TM4SF3CI-24k|MC1DN7
Cytomap

12q21.1

18p11.22

Type of geneprotein-codingprotein-coding
Descriptiontetraspanin-8transmembrane 4 superfamily member 3tspan-8tumor-associated antigen CO-029NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrialNADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDaNADH dehydrogenase ubiquinone flavoprotein 2, mitochondrialNADH-ubiquinone oxidoreductase 24 kDa subunitNADH-ubiquinone oxidoreductase fl
Modification date2020031320200313
UniProtAcc.

P19404

Ensembl transtripts involved in fusion geneENST00000393330, ENST00000247829, 
ENST00000546561, ENST00000552128, 
ENST00000552786, 		ENST00000318388, 
ENST00000497577, ENST00000400033, 
ENST00000465096, 
Fusion gene scores* DoF score8 X 8 X 6=3844 X 4 X 4=64
# samples 84
** MAII scorelog2(8/384*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TSPAN8 [Title/Abstract] AND NDUFV2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTSPAN8(71551398)-NDUFV2(9117835), # samples:1
Anticipated loss of major functional domain due to fusion event.TSPAN8-NDUFV2 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 TSPAN8 (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 NDUFV2 (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-Cancer271NTSPAN8chr12

71551398

-NDUFV2chr18

9117835

+


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Fusion Gene ORF analysis for TSPAN8-NDUFV2

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-shiftENST00000393330ENST00000318388TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5CDS-intronENST00000393330ENST00000497577TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5CDS-intronENST00000393330ENST00000400033TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5CDS-intronENST00000393330ENST00000465096TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
Frame-shiftENST00000247829ENST00000318388TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5CDS-intronENST00000247829ENST00000497577TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5CDS-intronENST00000247829ENST00000400033TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5CDS-intronENST00000247829ENST00000465096TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
In-frameENST00000546561ENST00000318388TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5CDS-intronENST00000546561ENST00000497577TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5CDS-intronENST00000546561ENST00000400033TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5CDS-intronENST00000546561ENST00000465096TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
intron-3CDSENST00000552128ENST00000318388TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
intron-intronENST00000552128ENST00000497577TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
intron-intronENST00000552128ENST00000400033TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
intron-intronENST00000552128ENST00000465096TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5UTR-3CDSENST00000552786ENST00000318388TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5UTR-intronENST00000552786ENST00000497577TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5UTR-intronENST00000552786ENST00000400033TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+
5UTR-intronENST00000552786ENST00000465096TSPAN8chr12

71551398

-NDUFV2chr18

9117835

+

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)
ENST00000546561TSPAN8chr1271551398-ENST00000318388NDUFV2chr189117835+1043281221976251

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
ENST00000546561ENST00000318388TSPAN8chr1271551398-NDUFV2chr189117835+0.0010881020.99891186

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Fusion Genomic Features for TSPAN8-NDUFV2


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)
TSPAN8chr1271551398-NDUFV2chr189117835+0.0019030170.998097
TSPAN8chr1271551398-NDUFV2chr189117835+0.0019030170.998097

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 TSPAN8-NDUFV2


check button Go to

FGviewer for the breakpoints of chr12:71551398-chr18:9117835

.
- 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
.NDUFV2

P19404

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: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (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
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000247829-291_920.0238.0Topological domainCytoplasmic
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000393330-5121_920.0238.0Topological domainCytoplasmic
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000546561-181_920.0238.0Topological domainCytoplasmic

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000247829-29110_20520.0238.0Topological domainExtracellular
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000247829-29231_23720.0238.0Topological domainCytoplasmic
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000247829-2934_5720.0238.0Topological domainExtracellular
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000247829-2973_8320.0238.0Topological domainCytoplasmic
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000393330-512110_20520.0238.0Topological domainExtracellular
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000393330-512231_23720.0238.0Topological domainCytoplasmic
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000393330-51234_5720.0238.0Topological domainExtracellular
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000393330-51273_8320.0238.0Topological domainCytoplasmic
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000546561-18110_20520.0238.0Topological domainExtracellular
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000546561-18231_23720.0238.0Topological domainCytoplasmic
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000546561-1834_5720.0238.0Topological domainExtracellular
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000546561-1873_8320.0238.0Topological domainCytoplasmic
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000247829-2910_3320.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000247829-29206_23020.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000247829-2958_7220.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000247829-2984_10920.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000393330-51210_3320.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000393330-512206_23020.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000393330-51258_7220.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000393330-51284_10920.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000546561-1810_3320.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000546561-18206_23020.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000546561-1858_7220.0238.0TransmembraneHelical
HgeneTSPAN8chr12:71551398chr18:9117835ENST00000546561-1884_10920.0238.0TransmembraneHelical


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Fusion Gene Sequence for TSPAN8-NDUFV2


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.
>In-frame_ENST00000546561_ENST00000318388_271N_TSPAN8_chr12_71551398_-_NDUFV2_chr18_9117835_length(transcript)=1043nt_BP=281nt
GTGTGGGTTAATAGCCTTTGCGATATTTAAATGTGTGGGTTAATTTTTTTATCCAGTTTAATAACTTTTTATTCCTCCCTCTACTTCTTT
GCTTTCTCTTTCTGCTCTGAAGCCGTGGATACAGAAATCTCTGCAGGCAAGTTGCTCCAGAGCATATTGCAGGACAAGCCTGTAACGAAT
AGTTAAATTCACGGCATCTGGATTCCTAATCCTTTTCCGAAATGGCAGGTGTGAGTGCCTGTATAAAATATTCTATGTTTACCTTCAACT
TCTTGTTCTGGGGAAGACATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGAGCTTTATTTGTGCACAGAGATACTC
CTGAGAATAACCCTGATACTCCATTTGATTTCACACCAGAAAACTATAAGAGGATAGAGGCAATTGTAAAAAACTATCCAGAAGGCCATA
AAGCAGCAGCTGTTCTTCCAGTCCTGGATTTAGCCCAAAGGCAGAATGGGTGGTTGCCCATCTCTGCTATGAACAAGGTTGCAGAAGTTT
TACAAGTACCTCCAATGAGAGTATATGAAGTAGCAACTTTTTATACAATGTATAATCGAAAGCCAGTTGGAAAGTATCACATTCAGGTCT
GCACTACTACACCCTGCATGCTTCGAAACTCTGACAGCATACTGGAGGCCATTCAGAAAAAGCTTGGAATAAAGGTTGGGGAGACTACAC
CTGACAAACTTTTCACTCTTATAGAAGTGGAATGTTTAGGGGCCTGTGTGAACGCACCAATGGTTCAAATAAATGACAATTACTATGAGG
ATTTGACAGCTAAGGATATTGAAGAAATTATTGATGAGCTCAAGGCTGGCAAAATCCCAAAACCAGGGCCAAGGAGTGGACGCTTCTCTT
GTGAGCCAGCTGGAGGTCTTACCTCTTTGACTGAACCACCCAAGGGACCTGGATTTGGTGTACAAGCAGGCCTTTAATTTATATTGAACT

>In-frame_ENST00000546561_ENST00000318388_271N_TSPAN8_chr12_71551398_-_NDUFV2_chr18_9117835_length(amino acids)=251AA_start in transcript=221_stop in transcript=976
MAGVSACIKYSMFTFNFLFWGRHVRNLHKTVMQNGAGGALFVHRDTPENNPDTPFDFTPENYKRIEAIVKNYPEGHKAAAVLPVLDLAQR
QNGWLPISAMNKVAEVLQVPPMRVYEVATFYTMYNRKPVGKYHIQVCTTTPCMLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLG

--------------------------------------------------------------

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Fusion Gene PPI Analysis for TSPAN8-NDUFV2


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 TSPAN8-NDUFV2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNDUFV2P19404DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for TSPAN8-NDUFV2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTSPAN8C0005586Bipolar Disorder1PSYGENET
HgeneTSPAN8C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneTSPAN8C0035222Respiratory Distress Syndrome, Adult1CTD_human
HgeneTSPAN8C0036341Schizophrenia1PSYGENET
TgeneNDUFV2C0005586Bipolar Disorder5CTD_human;PSYGENET
TgeneNDUFV2C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY4GENOMICS_ENGLAND;ORPHANET
TgeneNDUFV2C0023264Leigh Disease2CLINGEN
TgeneNDUFV2C1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY2CLINGEN
TgeneNDUFV2C1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency2CLINGEN
TgeneNDUFV2C1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency2CLINGEN
TgeneNDUFV2C1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency2CLINGEN
TgeneNDUFV2C1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency2CLINGEN
TgeneNDUFV2C2931891Necrotizing encephalopathy, infantile subacute, of Leigh2CLINGEN
TgeneNDUFV2C0005587Depression, Bipolar1CTD_human
TgeneNDUFV2C0024713Manic Disorder1CTD_human
TgeneNDUFV2C0033141Cardiomyopathies, Primary1CTD_human
TgeneNDUFV2C0036341Schizophrenia1CTD_human
TgeneNDUFV2C0036529Myocardial Diseases, Secondary1CTD_human
TgeneNDUFV2C0041696Unipolar Depression1PSYGENET
TgeneNDUFV2C0162666Mitochondrial Encephalomyopathies1CTD_human
TgeneNDUFV2C0338831Manic1CTD_human
TgeneNDUFV2C0878544Cardiomyopathies1CTD_human
TgeneNDUFV2C1269683Major Depressive Disorder1PSYGENET