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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: 30439

FusionGeneSummary for RAPGEF5_CFDP1

check button Fusion gene summary
Fusion gene informationFusion gene name: RAPGEF5_CFDP1
Fusion gene ID: 30439
HgeneTgene
Gene symbol

RAPGEF5

CFDP1

Gene ID

9771

10428

Gene nameRap guanine nucleotide exchange factor 5craniofacial development protein 1
SynonymsGFR|MR-GEF|REPACBCNT|BUCENTAUR|CENP-29|CP27|SWC5|Yeti|p97
Cytomap

7p15.3

16q23.1

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 Epaccraniofacial development protein 1centromere protein 29phosphoprotein (Bucentaur)
Modification date2018051920180519
UniProtAcc

Q92565

Q9UEE9

Ensembl transtripts involved in fusion geneENST00000344041, ENST00000475788, 
ENST00000405243, ENST00000401957, 
ENST00000283882, ENST00000564286, 
Fusion gene scores* DoF score11 X 11 X 6=72611 X 7 X 11=847
# samples 1118
** MAII scorelog2(11/726*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/847*10)=-2.23436506300252
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAPGEF5 [Title/Abstract] AND CFDP1 [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

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
TCGARVLUADTCGA-44-5645-01ARAPGEF5chr7

22232985

-CFDP1chr16

75339080

-
* 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-shitENST00000344041ENST00000283882RAPGEF5chr7

22232985

-CFDP1chr16

75339080

-
5CDS-intronENST00000344041ENST00000564286RAPGEF5chr7

22232985

-CFDP1chr16

75339080

-
5UTR-3CDSENST00000475788ENST00000283882RAPGEF5chr7

22232985

-CFDP1chr16

75339080

-
5UTR-intronENST00000475788ENST00000564286RAPGEF5chr7

22232985

-CFDP1chr16

75339080

-
intron-3CDSENST00000405243ENST00000283882RAPGEF5chr7

22232985

-CFDP1chr16

75339080

-
intron-intronENST00000405243ENST00000564286RAPGEF5chr7

22232985

-CFDP1chr16

75339080

-
Frame-shitENST00000401957ENST00000283882RAPGEF5chr7

22232985

-CFDP1chr16

75339080

-
5CDS-intronENST00000401957ENST00000564286RAPGEF5chr7

22232985

-CFDP1chr16

75339080

-

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FusionProtFeatures for RAPGEF5_CFDP1


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

Q92565

CFDP1

Q9UEE9

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}. May play a role during embryogenesis. {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


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FusionGeneSequence for RAPGEF5_CFDP1


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_CFDP1


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
RAPGEF5RAP2A, RAP1A, MRAS, KCND3, PLAC9, VANGL1, TMEM253, ANK3, ANK1, MAPK8IP2, ANK2, DDHD2, TUBB1, HSP90AA4P, CCDC88A, UBB, HERC1, PPFIBP1, RICTOR, PLEC, ZNHIT2, WNK1, PRKAR1B, PPP2R5D, PRKACB, PIK3CB, FLNC, ATP2B2CFDP1EWSR1, APP, DMAP1, SRCAP, SMAD3, TALDO1, HIST1H2BA, RUVBL1, RUVBL2, RBPJ, ID2


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_CFDP1


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_CFDP1


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