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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: 3458

FusionGeneSummary for ATP6V0E2_KIF5A

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V0E2_KIF5A
Fusion gene ID: 3458
HgeneTgene
Gene symbol

ATP6V0E2

KIF5A

Gene ID

155066

3798

Gene nameATPase H+ transporting V0 subunit e2kinesin family member 5A
SynonymsATP6V0E2L|C7orf32ALS25|D12S1889|MY050|NEIMY|NKHC|SPG10
Cytomap

7q36.1

12q13.3

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit e 2ATPase, H+ transporting V0 subunit E isoform 2-likeH+-ATPase e2 subunitV-ATPase subunit e 2lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2vacuolar proton pump subunit e 2vacuolar proton-ATPase subunitkinesin heavy chain isoform 5AKIF5A variant proteinkinesin heavy chain neuron-specific 1kinesin, heavy chain, neuron-specificneuronal kinesin heavy chain
Modification date2018052320180523
UniProtAcc

Q8NHE4

Q12840

Ensembl transtripts involved in fusion geneENST00000421974, ENST00000456496, 
ENST00000479613, ENST00000606024, 
ENST00000464662, ENST00000425642, 
ENST00000495408, 
ENST00000455537, 
ENST00000286452, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 5 X 4=120
# samples 18
** MAII scorelog2(1/1*10)=3.32192809488736log2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V0E2 [Title/Abstract] AND KIF5A [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
ChiTaRS3.1AA976981ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
* 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
3UTR-3CDSENST00000421974ENST00000455537ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
3UTR-3CDSENST00000421974ENST00000286452ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
3UTR-3CDSENST00000456496ENST00000455537ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
3UTR-3CDSENST00000456496ENST00000286452ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
3UTR-3CDSENST00000479613ENST00000455537ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
3UTR-3CDSENST00000479613ENST00000286452ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
intron-3CDSENST00000606024ENST00000455537ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
intron-3CDSENST00000606024ENST00000286452ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
intron-3CDSENST00000464662ENST00000455537ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
intron-3CDSENST00000464662ENST00000286452ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
3UTR-3CDSENST00000425642ENST00000455537ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
3UTR-3CDSENST00000425642ENST00000286452ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
intron-3CDSENST00000495408ENST00000455537ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-
intron-3CDSENST00000495408ENST00000286452ATP6V0E2chr7

149577589

-KIF5Achr12

57963395

-

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FusionProtFeatures for ATP6V0E2_KIF5A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP6V0E2

Q8NHE4

KIF5A

Q12840

Microtubule-dependent motor required for slow axonaltransport of neurofilament proteins (NFH, NFM and NFL). Can induceformation of neurite-like membrane protrusions in non-neuronalcells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complexcontributes to the vesicular transport of VAPA, VAPB, SURF4,RAB11A, RAB11B and RTN3 proteins in neurons.{ECO:0000250|UniProtKB:P33175}.

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 ATP6V0E2_KIF5A


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 ATP6V0E2_KIF5A


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


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 ATP6V0E2_KIF5A


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 ATP6V0E2_KIF5A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKIF5AC1858712Spastic paraplegia 10, autosomal dominant5CTD_human;ORPHANET;UNIPROT
TgeneKIF5AC0003873Rheumatoid Arthritis1CTD_human