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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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Fusion gene ID: 27411

FusionGeneSummary for PKP2_DNM1L

check button Fusion gene summary
Fusion gene informationFusion gene name: PKP2_DNM1L
Fusion gene ID: 27411
HgeneTgene
Gene symbol

PKP2

DNM1L

Gene ID

5318

10059

Gene nameplakophilin 2dynamin 1 like
SynonymsARVD9DLP1|DRP1|DVLP|DYMPLE|EMPF|EMPF1|HDYNIV|OPA5
Cytomap

12p11.21

12p11.21

Type of geneprotein-codingprotein-coding
Descriptionplakophilin-2dynamin-1-like proteinDnm1p/Vps1p-like proteindynamin family member proline-rich carboxyl-terminal domain lessdynamin-like protein 4dynamin-like protein IVdynamin-related protein 1
Modification date2018052320180523
UniProtAcc

Q99959

O00429

Ensembl transtripts involved in fusion geneENST00000340811, ENST00000070846, 
ENST00000546741, 		ENST00000452533, 
ENST00000553257, ENST00000549701, 
ENST00000358214, ENST00000548671, 
ENST00000266481, ENST00000547312, 
ENST00000414834, ENST00000381000, 
Fusion gene scores* DoF score5 X 6 X 4=1207 X 6 X 7=294
# samples 68
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/294*10)=-1.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PKP2 [Title/Abstract] AND DNM1L [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
TgeneDNM1L

GO:0000266

mitochondrial fission

23530241

TgeneDNM1L

GO:0003374

dynamin family protein polymerization involved in mitochondrial fission

11514614|23530241

TgeneDNM1L

GO:0016559

peroxisome fission

12618434

TgeneDNM1L

GO:0032459

regulation of protein oligomerization

20850011

TgeneDNM1L

GO:0050714

positive regulation of protein secretion

9570752

TgeneDNM1L

GO:0051289

protein homotetramerization

18353969

TgeneDNM1L

GO:0061025

membrane fusion

20850011

TgeneDNM1L

GO:0090149

mitochondrial membrane fission

11514614


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
TCGALDBRCATCGA-E9-A1ND-01APKP2chr12

33003700

-DNM1Lchr12

32854349

+
TCGALDBRCATCGA-EW-A6SD-01APKP2chr12

32993962

-DNM1Lchr12

32895523

+
* 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-shiftENST00000340811ENST00000452533PKP2chr12

33003700

-DNM1Lchr12

32854349

+
Frame-shiftENST00000340811ENST00000553257PKP2chr12

33003700

-DNM1Lchr12

32854349

+
Frame-shiftENST00000340811ENST00000549701PKP2chr12

33003700

-DNM1Lchr12

32854349

+
Frame-shiftENST00000340811ENST00000358214PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-3UTRENST00000340811ENST00000548671PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-3UTRENST00000340811ENST00000266481PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-3UTRENST00000340811ENST00000547312PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-5UTRENST00000340811ENST00000414834PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-5UTRENST00000340811ENST00000381000PKP2chr12

33003700

-DNM1Lchr12

32854349

+
Frame-shiftENST00000070846ENST00000452533PKP2chr12

33003700

-DNM1Lchr12

32854349

+
Frame-shiftENST00000070846ENST00000553257PKP2chr12

33003700

-DNM1Lchr12

32854349

+
Frame-shiftENST00000070846ENST00000549701PKP2chr12

33003700

-DNM1Lchr12

32854349

+
Frame-shiftENST00000070846ENST00000358214PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-3UTRENST00000070846ENST00000548671PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-3UTRENST00000070846ENST00000266481PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-3UTRENST00000070846ENST00000547312PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-5UTRENST00000070846ENST00000414834PKP2chr12

33003700

-DNM1Lchr12

32854349

+
5CDS-5UTRENST00000070846ENST00000381000PKP2chr12

33003700

-DNM1Lchr12

32854349

+
intron-3CDSENST00000546741ENST00000452533PKP2chr12

33003700

-DNM1Lchr12

32854349

+
intron-3CDSENST00000546741ENST00000553257PKP2chr12

33003700

-DNM1Lchr12

32854349

+
intron-3CDSENST00000546741ENST00000549701PKP2chr12

33003700

-DNM1Lchr12

32854349

+
intron-3CDSENST00000546741ENST00000358214PKP2chr12

33003700

-DNM1Lchr12

32854349

+
intron-3UTRENST00000546741ENST00000548671PKP2chr12

33003700

-DNM1Lchr12

32854349

+
intron-3UTRENST00000546741ENST00000266481PKP2chr12

33003700

-DNM1Lchr12

32854349

+
intron-3UTRENST00000546741ENST00000547312PKP2chr12

33003700

-DNM1Lchr12

32854349

+
intron-5UTRENST00000546741ENST00000414834PKP2chr12

33003700

-DNM1Lchr12

32854349

+
intron-5UTRENST00000546741ENST00000381000PKP2chr12

33003700

-DNM1Lchr12

32854349

+
In-frameENST00000340811ENST00000452533PKP2chr12

32993962

-DNM1Lchr12

32895523

+
In-frameENST00000340811ENST00000553257PKP2chr12

32993962

-DNM1Lchr12

32895523

+
In-frameENST00000340811ENST00000549701PKP2chr12

32993962

-DNM1Lchr12

32895523

+
In-frameENST00000340811ENST00000358214PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000340811ENST00000548671PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000340811ENST00000266481PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000340811ENST00000547312PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000340811ENST00000414834PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000340811ENST00000381000PKP2chr12

32993962

-DNM1Lchr12

32895523

+
In-frameENST00000070846ENST00000452533PKP2chr12

32993962

-DNM1Lchr12

32895523

+
In-frameENST00000070846ENST00000553257PKP2chr12

32993962

-DNM1Lchr12

32895523

+
In-frameENST00000070846ENST00000549701PKP2chr12

32993962

-DNM1Lchr12

32895523

+
In-frameENST00000070846ENST00000358214PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000070846ENST00000548671PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000070846ENST00000266481PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000070846ENST00000547312PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000070846ENST00000414834PKP2chr12

32993962

-DNM1Lchr12

32895523

+
5CDS-intronENST00000070846ENST00000381000PKP2chr12

32993962

-DNM1Lchr12

32895523

+
intron-3CDSENST00000546741ENST00000452533PKP2chr12

32993962

-DNM1Lchr12

32895523

+
intron-3CDSENST00000546741ENST00000553257PKP2chr12

32993962

-DNM1Lchr12

32895523

+
intron-3CDSENST00000546741ENST00000549701PKP2chr12

32993962

-DNM1Lchr12

32895523

+
intron-3CDSENST00000546741ENST00000358214PKP2chr12

32993962

-DNM1Lchr12

32895523

+
intron-intronENST00000546741ENST00000548671PKP2chr12

32993962

-DNM1Lchr12

32895523

+
intron-intronENST00000546741ENST00000266481PKP2chr12

32993962

-DNM1Lchr12

32895523

+
intron-intronENST00000546741ENST00000547312PKP2chr12

32993962

-DNM1Lchr12

32895523

+
intron-intronENST00000546741ENST00000414834PKP2chr12

32993962

-DNM1Lchr12

32895523

+
intron-intronENST00000546741ENST00000381000PKP2chr12

32993962

-DNM1Lchr12

32895523

+

Top

FusionProtFeatures for PKP2_DNM1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PKP2

Q99959

DNM1L

O00429

May play a role in junctional plaques.{ECO:0000269|PubMed:22781308}.

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
HgenePKP2chr12:32993962chr12:32895523ENST00000070846-714341_383562882RepeatNote=ARM 1
HgenePKP2chr12:32993962chr12:32895523ENST00000070846-714385_424562882RepeatNote=ARM 2
HgenePKP2chr12:32993962chr12:32895523ENST00000070846-714427_467562882RepeatNote=ARM 3
HgenePKP2chr12:32993962chr12:32895523ENST00000340811-613341_383518838RepeatNote=ARM 1
HgenePKP2chr12:32993962chr12:32895523ENST00000340811-613385_424518838RepeatNote=ARM 2
HgenePKP2chr12:32993962chr12:32895523ENST00000340811-613427_467518838RepeatNote=ARM 3
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518644_735627700DomainGED
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619644_735638711DomainGED
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518654_668627700RegionNote=Important for homodimerization
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619654_668638711RegionNote=Important for homodimerization
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619654_668653726RegionNote=Important for homodimerization

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePKP2chr12:32993962chr12:32895523ENST00000070846-714571_616562882RepeatNote=ARM 4
HgenePKP2chr12:32993962chr12:32895523ENST00000070846-714671_711562882RepeatNote=ARM 5
HgenePKP2chr12:32993962chr12:32895523ENST00000070846-714719_758562882RepeatNote=ARM 6
HgenePKP2chr12:32993962chr12:32895523ENST00000070846-714763_804562882RepeatNote=ARM 7
HgenePKP2chr12:32993962chr12:32895523ENST00000070846-714807_849562882RepeatNote=ARM 8
HgenePKP2chr12:32993962chr12:32895523ENST00000340811-613571_616518838RepeatNote=ARM 4
HgenePKP2chr12:32993962chr12:32895523ENST00000340811-613671_711518838RepeatNote=ARM 5
HgenePKP2chr12:32993962chr12:32895523ENST00000340811-613719_758518838RepeatNote=ARM 6
HgenePKP2chr12:32993962chr12:32895523ENST00000340811-613763_804518838RepeatNote=ARM 7
HgenePKP2chr12:32993962chr12:32895523ENST00000340811-613807_849518838RepeatNote=ARM 8
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+151822_302627700DomainDynamin-type G
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+161922_302638711DomainDynamin-type G
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+161922_302653726DomainDynamin-type G
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619644_735653726DomainGED
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+172022_302664737DomainDynamin-type G
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720644_735664737DomainGED
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+182122_302677750DomainDynamin-type G
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821644_735677750DomainGED
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518215_221627700Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518246_249627700Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+151832_40627700Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619215_221638711Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619246_249638711Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+161932_40638711Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619215_221653726Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619246_249653726Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+161932_40653726Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720215_221664737Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720246_249664737Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+172032_40664737Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821215_221677750Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821246_249677750Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+182132_40677750Nucleotide bindingGTP
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518146_149627700RegionG3 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518215_218627700RegionG4 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518245_248627700RegionG5 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+151832_39627700RegionG1 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518344_489627700RegionNote=Middle domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518502_569627700RegionNote=B domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+151858_60627700RegionG2 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619146_149638711RegionG3 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619215_218638711RegionG4 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619245_248638711RegionG5 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+161932_39638711RegionG1 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619344_489638711RegionNote=Middle domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619502_569638711RegionNote=B domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+161958_60638711RegionG2 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619146_149653726RegionG3 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619215_218653726RegionG4 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619245_248653726RegionG5 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+161932_39653726RegionG1 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619344_489653726RegionNote=Middle domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619502_569653726RegionNote=B domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+161958_60653726RegionG2 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720146_149664737RegionG3 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720215_218664737RegionG4 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720245_248664737RegionG5 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+172032_39664737RegionG1 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720344_489664737RegionNote=Middle domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720502_569664737RegionNote=B domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+172058_60664737RegionG2 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720654_668664737RegionNote=Important for homodimerization
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821146_149677750RegionG3 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821215_218677750RegionG4 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821245_248677750RegionG5 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+182132_39677750RegionG1 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821344_489677750RegionNote=Middle domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821502_569677750RegionNote=B domain
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+182158_60677750RegionG2 motif
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821654_668677750RegionNote=Important for homodimerization


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FusionGeneSequence for PKP2_DNM1L


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 PKP2_DNM1L


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
PKP2SFN, DSP, JUP, DSG1, DSG2, DSC1, DSC2, POLR3A, GTF2B, KRT18, KRT5, CUL3, MARK3, YWHAQ, YWHAE, SMAD9, CLK2, YWHAB, DROSHA, CEP250, MTUS2, NDEL1, EED, RNF2, BMI1, ILK, MAST3, EFNB2, FAM188A, LPAR6, GRN, PTGER3, SCARNA22, HSPB2, RPGRIP1L, TMEM17, APC, MATR3, SEC16A, GTSE1, ESRRB, CDH1, EYA4, TACR1, HAVCR2, TMEM52B, WDYHV1, SLC14A2, PCDHGB1, KLHL40, LRRC4C, TNFRSF19, G3BP1, GTF2IRD1DNM1LGSK3B, FIS1, PEX11A, PEX11B, PEX11G, PARK2, GABRR1, MUL1, COPS5, LRRK2, MIEF1, PEX14, MARCH5, DNM1L, MFF, MIEF2, SOX2, APEH, CYHR1, CARS, ARFIP1, ATP6V1C1, TBC1D15, FAM129B, JMJD6, PSMG3, SEC24A, SSB, VPS26A, EGFR, MAGEA1, MAGEA3, RRM2, SCG3, SH3GL1, ZBTB24, FZR1, HAX1, NUFIP1, DGUOK, DNAAF2, FGL1, UNK, ATIC, TES, NTRK1, PINK1, LLGL2, PPIA, CDCA5, SNW1, CDC5L, CPNE2, CA14, DUSP23, MYL12A, PFN1, LDHB, RPL30, DBN1, NME1, CKB, TPI1, ALDOA, SAP18, CCT8, RPL12, TXN, EEF2, YWHAE, YWHAZ, YWHAB, HPRT1, CCT2, ARF1, LDHA, EIF5A, RPL27, MDH2, PRDX6, PSMC5, HNRNPA1L2, EEF1B2, PRDX2, RUVBL2, PSMC3, UBA1, EEF1G, TIMM13, VCP, RUVBL1, SF3B6, ACTN4, TPM1, SUB1, XRCC6, HSD17B10, HNRNPAB, PABPC1, HSPA4, HNRNPDL, ILF2, C14orf166, EEF1D, PAICS, YWHAQ, AHCY, PDIA6, STIP1, HSP90B1, IMPDH2, RNPS1, TAGLN2, ACLY, KPNB1, PGAM1, CDC37, PCMT1, NAP1L1, RPL28, ACTR1A, SUMO2, CCT7, TKT, EIF3F, ERH, SERBP1, RBBP4, PARK7, DCD, PSMC6, RANBP1, RARS, PTBP1, UBE2L3, EIF4A3, PDHB, PSMA4, RPA3, PLS3, GFAP, PSMC2, NACA, KCTD12, PSMC1, TRIM28, DNAJA1, HSPH1, HNRNPH3, DCTN2, RBM8A, SAE1, PRMT1, MTHFD1, PSMD2, RBMXL2, EIF2S1, EIF3D, ACTN1, SKP1, FASN, XRCC5, EZR, EIF3B, PFDN2, AHSA1, DDX21, DARS, PNN, BUB3, ACIN1, MYH11, RCC1, EIF3A, DDX39B, PSMC4, DYNC1H1, CDK1, LARS, MAT2A, TLN1, ABCE1, GANAB, CAPRIN1, IQGAP1, SAFB, SOD1, HIST1H2AE, HIST1H2AB, CKMT1B, CKMT1A, CALM1, CALM2, CALM3


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
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000266481+1518448_685627700GSK3B
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000452533+1619448_685638711GSK3B
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000547312+1619448_685653726GSK3B
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000549701+1720448_685664737GSK3B
TgeneDNM1Lchr12:32993962chr12:32895523ENST00000553257+1821448_685677750GSK3B


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PKP2_DNM1L


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 PKP2_DNM1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePKP2C1836906Arrhythmogenic Right Ventricular Dysplasia, Familial, 93CTD_human;UNIPROT
TgeneDNM1LC3280660ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION2ORPHANET;UNIPROT
TgeneDNM1LC0001125Acidosis, Lactic1CTD_human;HPO
TgeneDNM1LC0025958Microcephaly1CTD_human
TgeneDNM1LC0029124Optic Atrophy1CTD_human;HPO
TgeneDNM1LC0151744Myocardial Ischemia1CTD_human
TgeneDNM1LC0162666Mitochondrial Encephalomyopathies1CTD_human