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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 36927

FusionGeneSummary for SYNGR2_TMC8

check button Fusion gene summary
Fusion gene informationFusion gene name: SYNGR2_TMC8
Fusion gene ID: 36927
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 date2018052320180523
UniProtAcc

O43760

Q8IU68

Ensembl transtripts involved in fusion geneENST00000225777, ENST00000585591, 
ENST00000589711, ENST00000588282, 
ENST00000590201, ENST00000592456, 
ENST00000318430, ENST00000589691, 
ENST00000591144, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 5 X 3=75
# samples 35
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/75*10)=-0.584962500721156
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]

Functional or gene categories assigned by FusionGDB annotation
* 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:0032091

negative regulation of protein binding

23429285

TgeneTMC8

GO:0032460

negative regulation of protein oligomerization

23429285

TgeneTMC8

GO:0055069

zinc ion homeostasis

18158319

TgeneTMC8

GO:1902041

regulation of extrinsic apoptotic signaling pathway via death domain receptors

23429285


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDCESCTCGA-VS-A9V5-01ASYNGR2chr17

76164796

+TMC8chr17

76130475

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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

+

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FusionProtFeatures for SYNGR2_TMC8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SYNGR2

O43760

TMC8

Q8IU68

May play a role in regulated exocytosis. In neuronalcells, modulates the localization of synaptophysin/SYP intosynaptic-like microvesicles and may therefore play a role in theformation and/or the maturation of this vesicles. May also play arole in GLUT4 storage and transport to the plasma membrane.{ECO:0000250|UniProtKB:O54980}. (Microbial infection) May play a role in the assembly ofcytoplasmic inclusion bodies required for SFTS phlebovirusreplication. {ECO:0000269|PubMed:27226560}. Probable ion channel. {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
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616321_338272727Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616360_426272727Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616448_488272727Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616510_531272727Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616553_594272727Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616616_726272727Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515136_20049504Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515222_29949504Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515321_33849504Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515360_42649504Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515448_48849504Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515510_53149504Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515553_59449504Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515616_72649504Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616300_320272727TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616339_359272727TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616427_447272727TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616489_509272727TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616532_552272727TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616595_615272727TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515115_13549504TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515201_22149504TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515300_32049504TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515339_35949504TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515427_44749504TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515489_50949504TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515532_55249504TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+515595_61549504TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+1420_17133225DomainMARVEL
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+1520_17133266DomainMARVEL
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+14105_12533225TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+14147_16733225TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+1426_4633225TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000225777+1473_9333225TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+15105_12533266TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+15147_16733266TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+1526_4633266TransmembraneHelical
HgeneSYNGR2chr17:76164796chr17:76130475ENST00000585591+1573_9333266TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616136_200272727Topological domainLumenal
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+6161_114272727Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616222_299272727Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000589691+5151_11449504Topological domainCytoplasmic
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616115_135272727TransmembraneHelical
TgeneTMC8chr17:76164796chr17:76130475ENST00000318430+616201_221272727TransmembraneHelical


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FusionGeneSequence for SYNGR2_TMC8


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
SYNGR2ATP4A, SCARA3, SYNE4, GPR52, EDNRA, FATE1, VIPR2, PCDHAC2, SLC22A9, SLC34A2, CD97, SLCO1B1, TACR1, FPR2, SLC7A1, OPRM1, ZFYVE27, GPR114, SLC22A16, VIPR1, HTR2C, SYPL2TMC8TRAF1, TRAF2


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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RelatedDrugs for SYNGR2_TMC8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SYNGR2_TMC8


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