FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 36978

FusionGeneSummary for SYT1_AQP4

check button Fusion gene summary
Fusion gene informationFusion gene name: SYT1_AQP4
Fusion gene ID: 36978
HgeneTgene
Gene symbol

SYT1

AQP4

Gene ID

6857

361

Gene namesynaptotagmin 1aquaporin 4
SynonymsP65|SVP65|SYTMIWC|WCH4
Cytomap

12q21.2

18q11.2

Type of geneprotein-codingprotein-coding
Descriptionsynaptotagmin-1synaptotagmin IsytIaquaporin-4aquaporin type4mercurial-insensitive water channel
Modification date2018052320180523
UniProtAcc

P21579

P55087

Ensembl transtripts involved in fusion geneENST00000393240, ENST00000261205, 
ENST00000457153, ENST00000552744, 
ENST00000549454, 
ENST00000383168, 
ENST00000581374, ENST00000440832, 
ENST00000583022, 
Fusion gene scores* DoF score9 X 6 X 3=1624 X 3 X 3=36
# samples 104
** MAII scorelog2(10/162*10)=-0.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SYT1 [Title/Abstract] AND AQP4 [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
HgeneSYT1

GO:1903861

positive regulation of dendrite extension

23999003

TgeneAQP4

GO:0071346

cellular response to interferon-gamma

17645239


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
ChiTaRS3.1U34846SYT1chr12

79273914

-AQP4chr18

24445669

-
* 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
intron-5UTRENST00000393240ENST00000383168SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000393240ENST00000581374SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000393240ENST00000440832SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000393240ENST00000583022SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-5UTRENST00000261205ENST00000383168SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000261205ENST00000581374SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000261205ENST00000440832SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000261205ENST00000583022SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-5UTRENST00000457153ENST00000383168SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000457153ENST00000581374SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000457153ENST00000440832SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000457153ENST00000583022SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-5UTRENST00000552744ENST00000383168SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000552744ENST00000581374SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000552744ENST00000440832SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000552744ENST00000583022SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-5UTRENST00000549454ENST00000383168SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000549454ENST00000581374SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000549454ENST00000440832SYT1chr12

79273914

-AQP4chr18

24445669

-
intron-intronENST00000549454ENST00000583022SYT1chr12

79273914

-AQP4chr18

24445669

-

Top

FusionProtFeatures for SYT1_AQP4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SYT1

P21579

AQP4

P55087

May have a regulatory role in the membrane interactionsduring trafficking of synaptic vesicles at the active zone of thesynapse. It binds acidic phospholipids with a specificity thatrequires the presence of both an acidic head group and a diacylbackbone. A Ca(2+)-dependent interaction between synaptotagmin andputative receptors for activated protein kinase C has also beenreported. It can bind to at least three additional proteins in aCa(2+)-independent manner; these are neurexins, syntaxin and AP2.Plays a role in dendrite formation by melanocytes(PubMed:23999003). {ECO:0000269|PubMed:23999003}. Forms a water-specific channel. Osmoreceptor whichregulates body water balance and mediates water flow within thecentral nervous system.

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


Top

FusionGeneSequence for SYT1_AQP4


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).

Top

FusionGenePPI for SYT1_AQP4


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


Top

RelatedDrugs for SYT1_AQP4


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

Top

RelatedDiseases for SYT1_AQP4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAQP4C0011570Mental Depression2PSYGENET
TgeneAQP4C0027873Neuromyelitis Optica2CTD_human
TgeneAQP4C0036341Schizophrenia2PSYGENET
TgeneAQP4C0338715Drug-induced depressive state2PSYGENET
TgeneAQP4C0004352Autistic Disorder1CTD_human
TgeneAQP4C0011581Depressive disorder1PSYGENET
TgeneAQP4C0038220Status Epilepticus1CTD_human