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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: 41663

FusionGeneSummary for VRK2_FANCL

check button Fusion gene summary
Fusion gene informationFusion gene name: VRK2_FANCL
Fusion gene ID: 41663
HgeneTgene
Gene symbol

VRK2

FANCL

Gene ID

7444

55120

Gene namevaccinia related kinase 2FA complementation group L
Synonyms-FAAP43|PHF9|POG
Cytomap

2p16.1

2p16.1

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase VRK2vaccinia virus B1R-related kinase 2E3 ubiquitin-protein ligase FANCLFanconi anemia complementation group LPHD finger protein 9RING-type E3 ubiquitin transferase FANCLfanconi anemia group L proteinfanconi anemia-associated polypeptide of 43 kDa
Modification date2018052720180519
UniProtAcc

Q86Y07

Q9NW38

Ensembl transtripts involved in fusion geneENST00000435505, ENST00000417641, 
ENST00000478687, ENST00000412104, 
ENST00000340157, ENST00000440705, 
ENST00000403295, ENST00000402135, 
ENST00000233741, ENST00000403676, 
ENST00000540646, ENST00000481670, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 3 X 1=6
# samples 33
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/6*10)=2.32192809488736
Context

PubMed: VRK2 [Title/Abstract] AND FANCL [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
HgeneVRK2

GO:0046777

protein autophosphorylation

14645249|16704422

TgeneFANCL

GO:0006513

protein monoubiquitination

16916645|24389026


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
ChiTaRS3.1CN421381VRK2chr2

58386502

+FANCLchr2

58392925

-
* 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
In-frameENST00000435505ENST00000403295VRK2chr2

58386502

+FANCLchr2

58392925

-
In-frameENST00000435505ENST00000402135VRK2chr2

58386502

+FANCLchr2

58392925

-
In-frameENST00000435505ENST00000233741VRK2chr2

58386502

+FANCLchr2

58392925

-
In-frameENST00000435505ENST00000403676VRK2chr2

58386502

+FANCLchr2

58392925

-
5CDS-3UTRENST00000435505ENST00000540646VRK2chr2

58386502

+FANCLchr2

58392925

-
5CDS-intronENST00000435505ENST00000481670VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3CDSENST00000417641ENST00000403295VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3CDSENST00000417641ENST00000402135VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3CDSENST00000417641ENST00000233741VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3CDSENST00000417641ENST00000403676VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3UTRENST00000417641ENST00000540646VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-intronENST00000417641ENST00000481670VRK2chr2

58386502

+FANCLchr2

58392925

-
intron-3CDSENST00000478687ENST00000403295VRK2chr2

58386502

+FANCLchr2

58392925

-
intron-3CDSENST00000478687ENST00000402135VRK2chr2

58386502

+FANCLchr2

58392925

-
intron-3CDSENST00000478687ENST00000233741VRK2chr2

58386502

+FANCLchr2

58392925

-
intron-3CDSENST00000478687ENST00000403676VRK2chr2

58386502

+FANCLchr2

58392925

-
intron-3UTRENST00000478687ENST00000540646VRK2chr2

58386502

+FANCLchr2

58392925

-
intron-intronENST00000478687ENST00000481670VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3CDSENST00000412104ENST00000403295VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3CDSENST00000412104ENST00000402135VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3CDSENST00000412104ENST00000233741VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3CDSENST00000412104ENST00000403676VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-3UTRENST00000412104ENST00000540646VRK2chr2

58386502

+FANCLchr2

58392925

-
3UTR-intronENST00000412104ENST00000481670VRK2chr2

58386502

+FANCLchr2

58392925

-
Frame-shiftENST00000340157ENST00000403295VRK2chr2

58386502

+FANCLchr2

58392925

-
Frame-shiftENST00000340157ENST00000402135VRK2chr2

58386502

+FANCLchr2

58392925

-
Frame-shiftENST00000340157ENST00000233741VRK2chr2

58386502

+FANCLchr2

58392925

-
Frame-shiftENST00000340157ENST00000403676VRK2chr2

58386502

+FANCLchr2

58392925

-
5CDS-3UTRENST00000340157ENST00000540646VRK2chr2

58386502

+FANCLchr2

58392925

-
5CDS-intronENST00000340157ENST00000481670VRK2chr2

58386502

+FANCLchr2

58392925

-
Frame-shiftENST00000440705ENST00000403295VRK2chr2

58386502

+FANCLchr2

58392925

-
Frame-shiftENST00000440705ENST00000402135VRK2chr2

58386502

+FANCLchr2

58392925

-
Frame-shiftENST00000440705ENST00000233741VRK2chr2

58386502

+FANCLchr2

58392925

-
Frame-shiftENST00000440705ENST00000403676VRK2chr2

58386502

+FANCLchr2

58392925

-
5CDS-3UTRENST00000440705ENST00000540646VRK2chr2

58386502

+FANCLchr2

58392925

-
5CDS-intronENST00000440705ENST00000481670VRK2chr2

58386502

+FANCLchr2

58392925

-

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FusionProtFeatures for VRK2_FANCL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VRK2

Q86Y07

FANCL

Q9NW38

Ubiquitin ligase protein that mediatesmonoubiquitination of FANCD2 in the presence of UBE2T, a key stepin the DNA damage pathway (PubMed:12973351, PubMed:16916645,PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediatesmonoubiquitination of FANCI (PubMed:19589784). May stimulate theubiquitin release from UBE2W. May be required for properprimordial germ cell proliferation in the embryonic stage, whereasit is probably not needed for spermatogonial proliferation afterbirth. {ECO:0000269|PubMed:12973351, ECO:0000269|PubMed:16916645,ECO:0000269|PubMed:17938197, ECO:0000269|PubMed:19111657,ECO:0000269|PubMed:19589784, ECO:0000269|PubMed:24389026}.

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
TgeneFANCLchr2:58386502chr2:58392925ENST00000233741-014104_294-13376RegionNote=UBC-RWD region (URD)
TgeneFANCLchr2:58386502chr2:58392925ENST00000402135-014104_294-13381RegionNote=UBC-RWD region (URD)
TgeneFANCLchr2:58386502chr2:58392925ENST00000233741-014307_365-13376Zinc fingerNote=RING-type
TgeneFANCLchr2:58386502chr2:58392925ENST00000402135-014307_365-13381Zinc fingerNote=RING-type

- 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 VRK2_FANCL


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 VRK2_FANCL


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 VRK2_FANCL


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 VRK2_FANCL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVRK2C0036341Schizophrenia2PSYGENET
TgeneFANCLC0015625Fanconi Anemia2CTD_human;ORPHANET