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: 10327

FusionGeneSummary for DNM2_RFX2

check button Fusion gene summary
Fusion gene informationFusion gene name: DNM2_RFX2
Fusion gene ID: 10327
HgeneTgene
Gene symbol

DNM2

RFX2

Gene ID

1785

5990

Gene namedynamin 2regulatory factor X2
SynonymsCMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII|LCCS5-
Cytomap

19p13.2

19p13.3

Type of geneprotein-codingprotein-coding
Descriptiondynamin-2dynamin IIDNA-binding protein RFX2HLA class II regulatory factor RFX2regulatory factor X 2regulatory factor X, 2 (influences HLA class II expression)trans-acting regulatory factor 2
Modification date2018052720180523
UniProtAcc

P50570

P48378

Ensembl transtripts involved in fusion geneENST00000585892, ENST00000314646, 
ENST00000359692, ENST00000389253, 
ENST00000355667, ENST00000408974, 
ENST00000591819, 		ENST00000303657, 
ENST00000359161, ENST00000592546, 
ENST00000587700, 
Fusion gene scores* DoF score27 X 13 X 12=42128 X 7 X 8=448
# samples 319
** MAII scorelog2(31/4212*10)=-3.76416531575148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/448*10)=-2.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNM2 [Title/Abstract] AND RFX2 [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
HgeneDNM2

GO:1903526

negative regulation of membrane tubulation

18388313


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
TCGARVBLCATCGA-XF-AAMJ-01ADNM2chr19

10916643

+RFX2chr19

5997224

-
* 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-shiftENST00000585892ENST00000303657DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000585892ENST00000359161DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000585892ENST00000592546DNM2chr19

10916643

+RFX2chr19

5997224

-
5CDS-intronENST00000585892ENST00000587700DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000314646ENST00000303657DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000314646ENST00000359161DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000314646ENST00000592546DNM2chr19

10916643

+RFX2chr19

5997224

-
5CDS-intronENST00000314646ENST00000587700DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000359692ENST00000303657DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000359692ENST00000359161DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000359692ENST00000592546DNM2chr19

10916643

+RFX2chr19

5997224

-
5CDS-intronENST00000359692ENST00000587700DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000389253ENST00000303657DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000389253ENST00000359161DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000389253ENST00000592546DNM2chr19

10916643

+RFX2chr19

5997224

-
5CDS-intronENST00000389253ENST00000587700DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000355667ENST00000303657DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000355667ENST00000359161DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000355667ENST00000592546DNM2chr19

10916643

+RFX2chr19

5997224

-
5CDS-intronENST00000355667ENST00000587700DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000408974ENST00000303657DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000408974ENST00000359161DNM2chr19

10916643

+RFX2chr19

5997224

-
Frame-shiftENST00000408974ENST00000592546DNM2chr19

10916643

+RFX2chr19

5997224

-
5CDS-intronENST00000408974ENST00000587700DNM2chr19

10916643

+RFX2chr19

5997224

-
intron-3CDSENST00000591819ENST00000303657DNM2chr19

10916643

+RFX2chr19

5997224

-
intron-3CDSENST00000591819ENST00000359161DNM2chr19

10916643

+RFX2chr19

5997224

-
intron-3CDSENST00000591819ENST00000592546DNM2chr19

10916643

+RFX2chr19

5997224

-
intron-intronENST00000591819ENST00000587700DNM2chr19

10916643

+RFX2chr19

5997224

-

Top

FusionProtFeatures for DNM2_RFX2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DNM2

P50570

RFX2

P48378

Microtubule-associated force-producing protein involvedin producing microtubule bundles and able to bind and hydrolyzeGTP. Plays a role in the regulation of neuron morphology, axongrowth and formation of neuronal growth cones (By similarity).Plays an important role in vesicular trafficking processes, inparticular endocytosis. Involved in cytokinesis (PubMed:12498685).Regulates maturation of apoptotic cell corpse-containingphagosomes by recruiting PIK3C3 to the phagosome membrane (Bysimilarity). {ECO:0000250|UniProtKB:P39052,ECO:0000250|UniProtKB:P39054, ECO:0000269|PubMed:12498685}. Transcription factor that acts as a key regulator ofspermatogenesis. Acts by regulating expression of genes requiredfor the haploid phase during spermiogenesis, such as genesrequired for cilium assembly and function (By similarity).Recognizes and binds the X-box, a regulatory motif with DNAsequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters(PubMed:10330134). Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity).{ECO:0000250|UniProtKB:P48379, ECO:0000269|PubMed:10330134}.

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 DNM2_RFX2


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 DNM2_RFX2


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
DNM2SHANK1, SHANK2, SNX9, PDE6G, DDX39B, FER, EPS15, RUVBL2, MEPCE, RPAP2, GTF2E2, PACSIN1, PACSIN2, PACSIN3, TRIP10, PSTPIP1, FCHSD1, WIPI2, HMGB1, DNM1, RPS2, ATXN3, ZBTB16, MAN1B1, CCT7, RWDD2B, CCDC90B, DYNC1I1, TYK2, TIAM2, ITSN1, GDF9, SPRY2, ITSN2, SIRT7, SH3KBP1, CD2AP, AMPH, SH3GL2, SRC, GRB2, SHC1, APP, PICALM, RBMS1, SLC30A5, CTTN, FN1, VCAM1, PEX14, MANEA, KCNN3, ITGA4, AHI1, MPP6, FBXO6, FNBP1L, FNBP1, WBP4, EGFR, STAU1, DNM3, SCN2B, LYPD6, HTR6, BIN1, GBE1, GGA1, PTPN13, RPE, RTCB, NTRK1, OFD1, FGFR1OP, CNTRL, FBF1, NPHP1, DCTN1, RPGR, TCTN1, XRCC6, HNRNPD, PLK1, PML, BUB3, RHOU, SNW1, CDC5L, PTPN11, PIK3R1, PDGFRA, SNX18, GYPB, TMEM9B, TBC1D15, ZBBX, RBM3, DNALI1, TRIM25, TESRFX2RFX6, MDFI, RFX4, FBXL3, C1orf94, FOXJ1, FOXJ2, FOXN3, FOXN2


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 DNM2_RFX2


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 DNM2_RFX2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNM2C1834558Myopathy, Centronuclear, Autosomal Dominant9CTD_human;ORPHANET;UNIPROT
HgeneDNM2C1847902CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)4CTD_human;ORPHANET;UNIPROT
HgeneDNM2C0752282Congenital Structural Myopathy1CTD_human
HgeneDNM2C3809272LETHAL CONGENITAL CONTRACTURE SYNDROME 51ORPHANET;UNIPROT