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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:SYNGR2-TMC8 (FusionGDB2 ID:87841)

Fusion Gene Summary for SYNGR2-TMC8

check button Fusion gene summary
Fusion gene informationFusion gene name: SYNGR2-TMC8
Fusion gene ID: 87841
HgeneTgene
Gene symbol

SYNGR2

TMC8

Gene ID

9144

147138

Gene namesynaptogyrin 2transmembrane channel like 8
Synonyms-EV2|EVER2|EVIN2
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionsynaptogyrin-2cellugyrintransmembrane channel-like protein 8epidermodysplasia verruciformis 2epidermodysplasia verruciformis protein 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000225777, ENST00000585591, 
ENST00000589711, ENST00000588282, 
ENST00000590201, ENST00000592456, 
ENST00000318430, ENST00000589691, 
ENST00000591144, 
Fusion gene scores* DoF score5 X 4 X 4=808 X 7 X 4=224
# samples 78
** MAII scorelog2(7/80*10)=-0.192645077942396
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SYNGR2 [Title/Abstract] AND TMC8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSYNGR2(76164796)-TMC8(76130475), # 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
TgeneTMC8

GO:0001558

regulation of cell growth

18158319

TgeneTMC8

GO:0031333

negative regulation of protein complex assembly

23429285

TgeneTMC8

GO:0032091

negative regulation of protein binding

23429285

TgeneTMC8

GO:0055069

zinc ion homeostasis

18158319

TgeneTMC8

GO:1902041

regulation of extrinsic apoptotic signaling pathway via death domain receptors

23429285


check buttonFusion gene breakpoints across SYNGR2 (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 TMC8 (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
ChimerDB4CESCTCGA-VS-A9V5-01ASYNGR2chr17

76164796

+TMC8chr17

76130475

+


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Fusion Gene ORF analysis for SYNGR2-TMC8

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
In-frameENST00000225777ENST00000318430SYNGR2chr17

76164796

+TMC8chr17

76130475

+
In-frameENST00000225777ENST00000589691SYNGR2chr17

76164796

+TMC8chr17

76130475

+
5CDS-intronENST00000225777ENST00000591144SYNGR2chr17

76164796

+TMC8chr17

76130475

+
In-frameENST00000585591ENST00000318430SYNGR2chr17

76164796

+TMC8chr17

76130475

+
In-frameENST00000585591ENST00000589691SYNGR2chr17

76164796

+TMC8chr17

76130475

+
5CDS-intronENST00000585591ENST00000591144SYNGR2chr17

76164796

+TMC8chr17

76130475

+
In-frameENST00000589711ENST00000318430SYNGR2chr17

76164796

+TMC8chr17

76130475

+
In-frameENST00000589711ENST00000589691SYNGR2chr17

76164796

+TMC8chr17

76130475

+
5CDS-intronENST00000589711ENST00000591144SYNGR2chr17

76164796

+TMC8chr17

76130475

+
In-frameENST00000588282ENST00000318430SYNGR2chr17

76164796

+TMC8chr17

76130475

+
In-frameENST00000588282ENST00000589691SYNGR2chr17

76164796

+TMC8chr17

76130475

+
5CDS-intronENST00000588282ENST00000591144SYNGR2chr17

76164796

+TMC8chr17

76130475

+
intron-3CDSENST00000590201ENST00000318430SYNGR2chr17

76164796

+TMC8chr17

76130475

+
intron-3CDSENST00000590201ENST00000589691SYNGR2chr17

76164796

+TMC8chr17

76130475

+
intron-intronENST00000590201ENST00000591144SYNGR2chr17

76164796

+TMC8chr17

76130475

+
intron-3CDSENST00000592456ENST00000318430SYNGR2chr17

76164796

+TMC8chr17

76130475

+
intron-3CDSENST00000592456ENST00000589691SYNGR2chr17

76164796

+TMC8chr17

76130475

+
intron-intronENST00000592456ENST00000591144SYNGR2chr17

76164796

+TMC8chr17

76130475

+

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 SYNGR2-TMC8


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)
SYNGR2chr1776164796+TMC8chr1776130474+6.05E-080.9999999
SYNGR2chr1776164796+TMC8chr1776130474+6.05E-080.9999999

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 SYNGR2-TMC8


check button Go to

FGviewer for the breakpoints of chr17:76164796-chr17:76130475

.
- 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
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616321_338272.0727.0Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616360_426272.0727.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616448_488272.0727.0Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616510_531272.0727.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616553_594272.0727.0Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616616_726272.0727.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515136_20049.0504.0Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515222_29949.0504.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515321_33849.0504.0Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515360_42649.0504.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515448_48849.0504.0Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515510_53149.0504.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515553_59449.0504.0Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515616_72649.0504.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616300_320272.0727.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616339_359272.0727.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616427_447272.0727.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616489_509272.0727.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616532_552272.0727.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616595_615272.0727.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515115_13549.0504.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515201_22149.0504.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515300_32049.0504.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515339_35949.0504.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515427_44749.0504.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515489_50949.0504.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515532_55249.0504.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691515595_61549.0504.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+1420_17133.0225.0DomainMARVEL
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+1520_17133.0266.0DomainMARVEL
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+14105_12533.0225.0TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+14147_16733.0225.0TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+1426_4633.0225.0TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+1473_9333.0225.0TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+15105_12533.0266.0TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+15147_16733.0266.0TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+1526_4633.0266.0TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+1573_9333.0266.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616136_200272.0727.0Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST000003184306161_114272.0727.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616222_299272.0727.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST000005896915151_11449.0504.0Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616115_135272.0727.0TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430616201_221272.0727.0TransmembraneHelical


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Fusion Gene Sequence for SYNGR2-TMC8


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 SYNGR2-TMC8


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 SYNGR2-TMC8


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 SYNGR2-TMC8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTMC8C4722258EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 22GENOMICS_ENGLAND
TgeneTMC8C0014522Epidermodysplasia Verruciformis1GENOMICS_ENGLAND;ORPHANET
TgeneTMC8C4722564EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 11GENOMICS_ENGLAND