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: 13994

FusionGeneSummary for FRYL_UNC13B

check button Fusion gene summary
Fusion gene informationFusion gene name: FRYL_UNC13B
Fusion gene ID: 13994
HgeneTgene
Gene symbol

FRYL

UNC13B

Gene ID

285527

10497

Gene nameFRY like transcription coactivatorunc-13 homolog B
SynonymsAF4p12|KIAA0826|MOR2MUNC13|UNC13|Unc13h2
Cytomap

4p11

9p13.3

Type of geneprotein-codingprotein-coding
Descriptionprotein furry homolog-likeALL1-fused gene from chromosome 4p12 proteinFRY-likefurry homolog-likefurry-likemor2 cell polarity protein homologprotein unc-13 homolog Bhomolog of rat Munc13 (diacylglycerol-binding)munc13-2unc-13-like
Modification date2018052320180523
UniProtAcc

O94915

O14795

Ensembl transtripts involved in fusion geneENST00000503238, ENST00000358350, 
ENST00000537810, ENST00000264319, 
ENST00000507711, ENST00000514783, 
ENST00000507873, ENST00000506685, 
ENST00000396787, ENST00000378495, 
ENST00000378496, ENST00000481299, 
Fusion gene scores* DoF score14 X 11 X 11=16944 X 3 X 3=36
# samples 214
** MAII scorelog2(21/1694*10)=-3.01197264166608
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: FRYL [Title/Abstract] AND UNC13B [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
TgeneUNC13B

GO:0043065

positive regulation of apoptotic process

10233166

TgeneUNC13B

GO:0050714

positive regulation of protein secretion

19641095

TgeneUNC13B

GO:0071333

cellular response to glucose stimulus

19641095


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
TCGARVSARCTCGA-HB-A2OT-01AFRYLchr4

48712536

-UNC13Bchr9

35366944

+
* 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-3CDSENST00000503238ENST00000396787FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000503238ENST00000378495FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000503238ENST00000378496FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-intronENST00000503238ENST00000481299FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000358350ENST00000396787FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000358350ENST00000378495FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000358350ENST00000378496FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-intronENST00000358350ENST00000481299FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000537810ENST00000396787FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000537810ENST00000378495FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000537810ENST00000378496FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-intronENST00000537810ENST00000481299FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000264319ENST00000396787FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000264319ENST00000378495FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000264319ENST00000378496FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-intronENST00000264319ENST00000481299FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000507711ENST00000396787FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000507711ENST00000378495FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-3CDSENST00000507711ENST00000378496FRYLchr4

48712536

-UNC13Bchr9

35366944

+
5UTR-intronENST00000507711ENST00000481299FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000514783ENST00000396787FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000514783ENST00000378495FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000514783ENST00000378496FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-intronENST00000514783ENST00000481299FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000507873ENST00000396787FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000507873ENST00000378495FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000507873ENST00000378496FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-intronENST00000507873ENST00000481299FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000506685ENST00000396787FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000506685ENST00000378495FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-3CDSENST00000506685ENST00000378496FRYLchr4

48712536

-UNC13Bchr9

35366944

+
intron-intronENST00000506685ENST00000481299FRYLchr4

48712536

-UNC13Bchr9

35366944

+

Top

FusionProtFeatures for FRYL_UNC13B


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

O94915

UNC13B

O14795

Plays a key role in maintaining the integrity ofpolarized cell extensions during morphogenesis, regulates theactin cytoskeleton and plays a key role in patterning sensoryneuron dendritic fields by promoting avoidance between homologousdendrites as well as by limiting dendritic branching (Bysimilarity). May function as a transcriptional activator.{ECO:0000250, ECO:0000269|PubMed:16061630}. Plays a role in vesicle maturation during exocytosis asa target of the diacylglycerol second messenger pathway. Isinvolved in neurotransmitter release by acting in synaptic vesiclepriming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP).Essential for synaptic vesicle maturation in a subset ofexcitatory/glutamatergic but not inhibitory/GABA-mediated synapses(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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for FRYL_UNC13B


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 FRYL_UNC13B


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
FRYLHOMER3, YWHAG, BAK1, YWHAB, DISC1, SIRT7, GRK5, NOTCH1, MMS19, PELI2, SLMAP, ABCF1, KIAA0930, MARK2, POLH, YWHAH, TACC3, PDZK1, FRY, HOMER1, FLNC, RNF138, FAM78BUNC13BSTX1A, SPTBN2, RPH3AL, STX1B, RIMS1, DOC2A, VAMP2, SNAP25, WDR48, BARD1, ECT2, RAB27A, CLK1, UBXN10, CCDC40, DIRAS2, PTPN4


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 FRYL_UNC13B


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 FRYL_UNC13B


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