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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: 30446

FusionGeneSummary for RAPGEF5_TMEM14B

check button Fusion gene summary
Fusion gene informationFusion gene name: RAPGEF5_TMEM14B
Fusion gene ID: 30446
HgeneTgene
Gene symbol

RAPGEF5

TMEM14B

Gene ID

9771

81853

Gene nameRap guanine nucleotide exchange factor 5transmembrane protein 14B
SynonymsGFR|MR-GEF|REPAC-
Cytomap

7p15.3

6p24.2

Type of geneprotein-codingprotein-coding
Descriptionrap guanine nucleotide exchange factor 5M-Ras-regulated GEFM-Ras-regulated Rap GEFRap guanine nucleotide exchange factor (GEF) 5guanine nucleotide exchange factor for Rap1related to Epactransmembrane protein 14B
Modification date2018051920180519
UniProtAcc

Q92565

Q9NUH8

Ensembl transtripts involved in fusion geneENST00000344041, ENST00000475788, 
ENST00000405243, ENST00000401957, 
ENST00000379542, ENST00000491103, 
ENST00000461342, ENST00000475942, 
ENST00000379530, ENST00000473276, 
ENST00000481240, ENST00000467317, 
Fusion gene scores* DoF score11 X 11 X 6=7262 X 2 X 2=8
# samples 112
** MAII scorelog2(11/726*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: RAPGEF5 [Title/Abstract] AND TMEM14B [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
TgeneTMEM14B

GO:0061351

neural precursor cell proliferation

29033352

TgeneTMEM14B

GO:2000045

regulation of G1/S transition of mitotic cell cycle

29033352


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
ChiTaRS3.1BG483209RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
* 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-intronENST00000344041ENST00000379542RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000344041ENST00000491103RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000344041ENST00000461342RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000344041ENST00000475942RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000344041ENST00000379530RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000344041ENST00000473276RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000344041ENST00000481240RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000344041ENST00000467317RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000475788ENST00000379542RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000475788ENST00000491103RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000475788ENST00000461342RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000475788ENST00000475942RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000475788ENST00000379530RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000475788ENST00000473276RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000475788ENST00000481240RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000475788ENST00000467317RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000405243ENST00000379542RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000405243ENST00000491103RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000405243ENST00000461342RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000405243ENST00000475942RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000405243ENST00000379530RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000405243ENST00000473276RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000405243ENST00000481240RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000405243ENST00000467317RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000401957ENST00000379542RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000401957ENST00000491103RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000401957ENST00000461342RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000401957ENST00000475942RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000401957ENST00000379530RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000401957ENST00000473276RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000401957ENST00000481240RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+
intron-intronENST00000401957ENST00000467317RAPGEF5chr7

22211458

-TMEM14Bchr6

10848782

+

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FusionProtFeatures for RAPGEF5_TMEM14B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAPGEF5

Q92565

TMEM14B

Q9NUH8

Guanine nucleotide exchange factor (GEF) for RAP1A,RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1activation. {ECO:0000269|PubMed:10777494,ECO:0000269|PubMed:10934204}. Primate-specific protein involved in cortical expansionand folding in the developing neocortex. May drive neuralprogenitor proliferation through nuclear translocation of IQGAP1,which in turn promotes G1/S cell cycle transitions.{ECO:0000269|PubMed:29033352}.

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 RAPGEF5_TMEM14B


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 RAPGEF5_TMEM14B


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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RelatedDrugs for RAPGEF5_TMEM14B


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 RAPGEF5_TMEM14B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAPGEF5C0005586Bipolar Disorder1PSYGENET
HgeneRAPGEF5C0033975Psychotic Disorders1PSYGENET
HgeneRAPGEF5C0036341Schizophrenia1PSYGENET
HgeneRAPGEF5C0041696Unipolar Depression1PSYGENET
HgeneRAPGEF5C0236733Amphetamine-Related Disorders1CTD_human
HgeneRAPGEF5C0349204Nonorganic psychosis1PSYGENET
HgeneRAPGEF5C1269683Major Depressive Disorder1PSYGENET