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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: 4474

FusionGeneSummary for BRWD1_RAPGEF4

check button Fusion gene summary
Fusion gene informationFusion gene name: BRWD1_RAPGEF4
Fusion gene ID: 4474
HgeneTgene
Gene symbol

BRWD1

RAPGEF4

Gene ID

54014

11069

Gene namebromodomain and WD repeat domain containing 1Rap guanine nucleotide exchange factor 4
SynonymsC21orf107|DCAF19|N143|WDR9|WRD9CAMP-GEFII|CGEF2|EPAC|EPAC 2|EPAC2|Nbla00496
Cytomap

21q22.2

2q31.1

Type of geneprotein-codingprotein-coding
Descriptionbromodomain and WD repeat-containing protein 1WD repeat protein WDR9-form2WD repeat-containing protein 9transcriptional unit N143rap guanine nucleotide exchange factor 4RAP guanine-nucleotide-exchange factor (GEF) 4Rap guanine nucleotide exchange factor (GEF) 4cAMP-regulated guanine nucleotide exchange factor IIexchange factor directly activated by cAMP 2exchange protein direc
Modification date2018052320180519
UniProtAcc

Q9NSI6

Q8WZA2

Ensembl transtripts involved in fusion geneENST00000333229, ENST00000342449, 
ENST00000380800, ENST00000341322, 
ENST00000470108, 		ENST00000264111, 
ENST00000397081, ENST00000409036, 
ENST00000397087, ENST00000538974, 
ENST00000540783, ENST00000539331, 
ENST00000473043, ENST00000535187, 
Fusion gene scores* DoF score14 X 13 X 8=14568 X 8 X 5=320
# samples 158
** MAII scorelog2(15/1456*10)=-3.27897594970282
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/320*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BRWD1 [Title/Abstract] AND RAPGEF4 [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
TCGARVPRADTCGA-HC-7081-01ABRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
* 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-shiftENST00000333229ENST00000264111BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000333229ENST00000397081BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000333229ENST00000409036BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000333229ENST00000397087BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000333229ENST00000538974BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000333229ENST00000540783BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000333229ENST00000539331BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
5CDS-intronENST00000333229ENST00000473043BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
5CDS-intronENST00000333229ENST00000535187BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000342449ENST00000264111BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000342449ENST00000397081BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000342449ENST00000409036BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000342449ENST00000397087BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000342449ENST00000538974BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000342449ENST00000540783BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000342449ENST00000539331BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
5CDS-intronENST00000342449ENST00000473043BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
5CDS-intronENST00000342449ENST00000535187BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000380800ENST00000264111BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000380800ENST00000397081BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000380800ENST00000409036BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000380800ENST00000397087BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000380800ENST00000538974BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000380800ENST00000540783BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
Frame-shiftENST00000380800ENST00000539331BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
5CDS-intronENST00000380800ENST00000473043BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
5CDS-intronENST00000380800ENST00000535187BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000341322ENST00000264111BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000341322ENST00000397081BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000341322ENST00000409036BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000341322ENST00000397087BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000341322ENST00000538974BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000341322ENST00000540783BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000341322ENST00000539331BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-intronENST00000341322ENST00000473043BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-intronENST00000341322ENST00000535187BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000470108ENST00000264111BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000470108ENST00000397081BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000470108ENST00000409036BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000470108ENST00000397087BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000470108ENST00000538974BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000470108ENST00000540783BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-3CDSENST00000470108ENST00000539331BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-intronENST00000470108ENST00000473043BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+
intron-intronENST00000470108ENST00000535187BRWD1chr21

40670358

-RAPGEF4chr2

173913328

+

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FusionProtFeatures for BRWD1_RAPGEF4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BRWD1

Q9NSI6

RAPGEF4

Q8WZA2

Guanine nucleotide exchange factor (GEF) for RAP1A,RAP1B and RAP2A small GTPases that is activated by binding cAMP.Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction with RIMS2 (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:10777494,ECO:0000269|PubMed:9856955}.

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 BRWD1_RAPGEF4


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 BRWD1_RAPGEF4


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
BRWD1DDB1, CUL4A, SMARCA4, UBXN7, CALM1, COPS5, APP, CUL3, RDX, APPL1, STAT3, MYO5C, MMGT1RAPGEF4ABCC8, RIMS2, RAP2A, RAP1A, ATXN1, BZRAP1, SWAP70, TRAF2, ZC3H11A, C16orf45, FBXL13


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 BRWD1_RAPGEF4


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 BRWD1_RAPGEF4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBRWD1C0028960Oligospermia1CTD_human