	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
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	RelatedDiseases

Fusion gene ID: 10330

FusionGeneSummary for DNM2_SLC47A1

Fusion gene summary

Fusion gene information	Fusion gene name: DNM2_SLC47A1
	Fusion gene ID: 10330
		Hgene	Tgene
	Gene symbol	DNM2	SLC47A1
	Gene ID	1785	55244
	Gene name	dynamin 2	solute carrier family 47 member 1
	Synonyms	CMT2M\|CMTDI1\|CMTDIB\|DI-CMTB\|DYN2\|DYNII\|LCCS5	MATE1
	Cytomap	19p13.2	17p11.2
	Type of gene	protein-coding	protein-coding
	Description	dynamin-2dynamin II	multidrug and toxin extrusion protein 1MATE-1hMATE-1multidrug and toxin extrusion 1solute carrier family 47 (multidrug and toxin extrusion), member 1
	Modification date	20180527	20180523
	UniProtAcc	P50570	Q96FL8
	Ensembl transtripts involved in fusion gene	ENST00000585892, ENST00000314646, ENST00000359692, ENST00000389253, ENST00000355667, ENST00000408974, ENST00000591819,	ENST00000584348, ENST00000571335, ENST00000436810, ENST00000542886, ENST00000457293, ENST00000270570, ENST00000575023, ENST00000395585,
Fusion gene scores	* DoF score	27 X 13 X 12=4212	5 X 5 X 4=100
	# samples	31	6
	** MAII score	log2(31/4212*10)=-3.76416531575148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: DNM2 [Title/Abstract] AND SLC47A1 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	DNM2	GO:1903526	negative regulation of membrane tubulation	18388313

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	ACC	TCGA-OR-A5J9-01A	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000585892	ENST00000584348	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000585892	ENST00000571335	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000585892	ENST00000436810	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000585892	ENST00000542886	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000585892	ENST00000457293	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000585892	ENST00000270570	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000585892	ENST00000575023	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000585892	ENST00000395585	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000314646	ENST00000584348	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000314646	ENST00000571335	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000314646	ENST00000436810	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000314646	ENST00000542886	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000314646	ENST00000457293	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-3UTR	ENST00000314646	ENST00000270570	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-3UTR	ENST00000314646	ENST00000575023	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-3UTR	ENST00000314646	ENST00000395585	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000359692	ENST00000584348	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000359692	ENST00000571335	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000359692	ENST00000436810	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000359692	ENST00000542886	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000359692	ENST00000457293	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000359692	ENST00000270570	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000359692	ENST00000575023	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000359692	ENST00000395585	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000389253	ENST00000584348	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000389253	ENST00000571335	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000389253	ENST00000436810	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000389253	ENST00000542886	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000389253	ENST00000457293	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-3UTR	ENST00000389253	ENST00000270570	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-3UTR	ENST00000389253	ENST00000575023	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-3UTR	ENST00000389253	ENST00000395585	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000355667	ENST00000584348	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000355667	ENST00000571335	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000355667	ENST00000436810	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000355667	ENST00000542886	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-intron	ENST00000355667	ENST00000457293	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-3UTR	ENST00000355667	ENST00000270570	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-3UTR	ENST00000355667	ENST00000575023	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
5CDS-3UTR	ENST00000355667	ENST00000395585	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000408974	ENST00000584348	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000408974	ENST00000571335	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000408974	ENST00000436810	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000408974	ENST00000542886	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000408974	ENST00000457293	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000408974	ENST00000270570	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000408974	ENST00000575023	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000408974	ENST00000395585	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000591819	ENST00000584348	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000591819	ENST00000571335	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000591819	ENST00000436810	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000591819	ENST00000542886	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-intron	ENST00000591819	ENST00000457293	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000591819	ENST00000270570	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000591819	ENST00000575023	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+
intron-3UTR	ENST00000591819	ENST00000395585	DNM2	chr19	10942573	+	SLC47A1	chr17	19482057	+

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FusionProtFeatures for DNM2_SLC47A1

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
DNM2 P50570	SLC47A1 Q96FL8
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}.	Solute transporter for tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide(NMN), metformin, creatinine, guanidine, procainamide, topotecan,estrone sulfate, acyclovir, ganciclovir and also the zwitterioniccephalosporin, cephalexin and cephradin. Seems to also play a rolein the uptake of oxaliplatin (a new platinum anticancer agent).Able to transport paraquat (PQ or N,N-dimethyl-4-4'-bipiridinium);a widely used herbicid. Responsible for the secretion of cationicdrugs across the brush border membranes.{ECO:0000269\|PubMed:16330770, ECO:0000269\|PubMed:16996621,ECO:0000269\|PubMed:17495125, ECO:0000269\|PubMed:17509534,ECO:0000269\|PubMed:17582384}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for DNM2_SLC47A1

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 DNM2_SLC47A1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
DNM2	SHANK1, 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, TES	SLC47A1	PTH1R, GABRE, NT5E, SLC39A4, POMK, ZACN, HTR3C, LYPD6, GPR21, UPK1A, SLC17A2, TCTN2, CHRND, SLC39A12, KIAA1467, HTR3A, TM2D2, ATP2B2, GPR114, CLEC2D, B4GAT1, NRN1, TMPRSS12, TPM2, PTGIR, GABRA3, FAM189B

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for DNM2_SLC47A1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for DNM2_SLC47A1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	DNM2	C1834558	Myopathy, Centronuclear, Autosomal Dominant	9	CTD_human;ORPHANET;UNIPROT
Hgene	DNM2	C1847902	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	4	CTD_human;ORPHANET;UNIPROT
Hgene	DNM2	C0752282	Congenital Structural Myopathy	1	CTD_human
Hgene	DNM2	C3809272	LETHAL CONGENITAL CONTRACTURE SYNDROME 5	1	ORPHANET;UNIPROT
Tgene	SLC47A1	C0022658	Kidney Diseases	1	CTD_human

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Fusion gene ID: 10330

FusionGeneSummary for DNM2_SLC47A1

FusionProtFeatures for DNM2_SLC47A1

FusionGeneSequence for DNM2_SLC47A1

FusionGenePPI for DNM2_SLC47A1

RelatedDrugs for DNM2_SLC47A1

RelatedDiseases for DNM2_SLC47A1