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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: 38260

FusionGeneSummary for TMBIM4_NAV3

check button Fusion gene summary
Fusion gene informationFusion gene name: TMBIM4_NAV3
Fusion gene ID: 38260
HgeneTgene
Gene symbol

TMBIM4

NAV3

Gene ID

51643

89795

Gene nametransmembrane BAX inhibitor motif containing 4neuron navigator 3
SynonymsCGI-119|GAAP|LFG4|S1R|ZPROPOMFIL1|STEERIN3|unc53H3
Cytomap

12q14.3

12q21.2

Type of geneprotein-codingprotein-coding
Descriptionprotein lifeguard 4Golgi anti-apoptotic proteinZ-proteintransmembrane BAX inhibitor motif-containing protein 4neuron navigator 3pore membrane and/or filament interacting like protein 1unc-53 homolog 3
Modification date2018051920180523
UniProtAcc

Q9HC24

Q8IVL0

Ensembl transtripts involved in fusion geneENST00000539652, ENST00000556010, 
ENST00000358230, ENST00000544599, 
ENST00000286424, ENST00000398033, 
ENST00000542724, ENST00000535812, 
ENST00000536525, ENST00000397909, 
ENST00000228327, ENST00000266692, 
ENST00000552300, ENST00000541270, 
Fusion gene scores* DoF score6 X 1 X 3=1815 X 13 X 4=780
# samples 611
** MAII scorelog2(6/18*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(11/780*10)=-2.82597060022495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMBIM4 [Title/Abstract] AND NAV3 [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
HgeneTMBIM4

GO:0050848

regulation of calcium-mediated signaling

19553469


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
TCGALDSARCTCGA-DX-A2J0-01ATMBIM4chr12

66563635

-NAV3chr12

78520947

+
* 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
Frame-shiftENST00000539652ENST00000536525TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000539652ENST00000397909TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000539652ENST00000228327TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000539652ENST00000266692TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000539652ENST00000552300TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000539652ENST00000541270TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000556010ENST00000536525TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000556010ENST00000397909TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000556010ENST00000228327TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000556010ENST00000266692TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000556010ENST00000552300TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000556010ENST00000541270TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000358230ENST00000536525TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000358230ENST00000397909TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000358230ENST00000228327TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000358230ENST00000266692TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000358230ENST00000552300TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000358230ENST00000541270TMBIM4chr12

66563635

-NAV3chr12

78520947

+
intron-3CDSENST00000544599ENST00000536525TMBIM4chr12

66563635

-NAV3chr12

78520947

+
intron-3CDSENST00000544599ENST00000397909TMBIM4chr12

66563635

-NAV3chr12

78520947

+
intron-3CDSENST00000544599ENST00000228327TMBIM4chr12

66563635

-NAV3chr12

78520947

+
intron-intronENST00000544599ENST00000266692TMBIM4chr12

66563635

-NAV3chr12

78520947

+
intron-intronENST00000544599ENST00000552300TMBIM4chr12

66563635

-NAV3chr12

78520947

+
intron-intronENST00000544599ENST00000541270TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000286424ENST00000536525TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000286424ENST00000397909TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000286424ENST00000228327TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000286424ENST00000266692TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000286424ENST00000552300TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000286424ENST00000541270TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000398033ENST00000536525TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000398033ENST00000397909TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000398033ENST00000228327TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000398033ENST00000266692TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000398033ENST00000552300TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000398033ENST00000541270TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000542724ENST00000536525TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000542724ENST00000397909TMBIM4chr12

66563635

-NAV3chr12

78520947

+
Frame-shiftENST00000542724ENST00000228327TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000542724ENST00000266692TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000542724ENST00000552300TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5CDS-intronENST00000542724ENST00000541270TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5UTR-3CDSENST00000535812ENST00000536525TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5UTR-3CDSENST00000535812ENST00000397909TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5UTR-3CDSENST00000535812ENST00000228327TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5UTR-intronENST00000535812ENST00000266692TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5UTR-intronENST00000535812ENST00000552300TMBIM4chr12

66563635

-NAV3chr12

78520947

+
5UTR-intronENST00000535812ENST00000541270TMBIM4chr12

66563635

-NAV3chr12

78520947

+

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FusionProtFeatures for TMBIM4_NAV3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMBIM4

Q9HC24

NAV3

Q8IVL0

Anti-apoptotic protein which can inhibit apoptosisinduced by intrinsic and extrinsic apoptotic stimuli. Can modulateboth capacitative Ca2+ entry and inositol 1,4,5-trisphosphate(IP3)-mediated Ca2+ release. {ECO:0000269|PubMed:17319741,ECO:0000269|PubMed:19553469}. May regulate IL2 production by T-cells. May be involvedin neuron regeneration. {ECO:0000269|PubMed:16166283}.

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


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FusionGeneSequence for TMBIM4_NAV3


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 TMBIM4_NAV3


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
TMBIM4SLC27A4, RPN2, CCDC47, DDOST, PPIB, MTX1, PRPSAP1, DFFA, COX4I1, VKORC1NAV3APC, TFAP4, MAPRE1, TRIO, KRAS


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 TMBIM4_NAV3


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 TMBIM4_NAV3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMBIM4C0029927Ovarian Cysts1CTD_human
TgeneNAV3C0007134Renal Cell Carcinoma1CTD_human
TgeneNAV3C0027412Opioid-Related Disorders1CTD_human