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: 4293

FusionGeneSummary for BOLA2_CNNM2

check button Fusion gene summary
Fusion gene informationFusion gene name: BOLA2_CNNM2
Fusion gene ID: 4293
HgeneTgene
Gene symbol

BOLA2

CNNM2

Gene ID

654483

54805

Gene namebolA family member 2Bcyclin and CBS domain divalent metal cation transport mediator 2
SynonymsBOLA2ACDP2|HOMG6|HOMGSMR
Cytomap

16p11.2

10q24.32

Type of geneprotein-codingprotein-coding
DescriptionbolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2Bmetal transporter CNNM2ancient conserved domain-containing protein 2cyclin M2
Modification date2018051920180519
UniProtAcc

Q9H3K6

Q9H8M5

Ensembl transtripts involved in fusion geneENST00000330978, ENST00000369878, 
ENST00000433628, ENST00000369875, 
ENST00000475511, 
Fusion gene scores* DoF score24 X 31 X 3=22323 X 3 X 2=18
# samples 313
** MAII scorelog2(31/2232*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BOLA2 [Title/Abstract] AND CNNM2 [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
HgeneBOLA2

GO:0044571

[2Fe-2S] cluster assembly

27519415

HgeneBOLA2

GO:0097428

protein maturation by iron-sulfur cluster transfer

27519415


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
ChiTaRS3.1BG988047BOLA2chr16

30005413

+CNNM2chr10

104828464

-
* 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
intron-3CDSENST00000330978ENST00000369878BOLA2chr16

30005413

+CNNM2chr10

104828464

-
intron-3CDSENST00000330978ENST00000433628BOLA2chr16

30005413

+CNNM2chr10

104828464

-
intron-intronENST00000330978ENST00000369875BOLA2chr16

30005413

+CNNM2chr10

104828464

-
intron-3UTRENST00000330978ENST00000475511BOLA2chr16

30005413

+CNNM2chr10

104828464

-

Top

FusionProtFeatures for BOLA2_CNNM2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BOLA2

Q9H3K6

CNNM2

Q9H8M5

Acts as a cytosolic iron-sulfur (Fe-S) cluster assemblyfactor that facilitates [2Fe-2S] cluster insertion into a subsetof cytosolic proteins (PubMed:26613676, PubMed:27519415). Actstogether with the monothiol glutaredoxin GLRX3 (PubMed:26613676,PubMed:27519415). {ECO:0000269|PubMed:26613676,ECO:0000269|PubMed:27519415}. Divalent metal cation transporter. Mediates transport ofdivalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) >Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity).{ECO:0000250|UniProtKB:Q3TWN3}.

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 BOLA2_CNNM2


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 BOLA2_CNNM2


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


Top

RelatedDrugs for BOLA2_CNNM2


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 BOLA2_CNNM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCNNM2C0036341Schizophrenia2PSYGENET
TgeneCNNM2C0003811Cardiac Arrhythmia1CTD_human
TgeneCNNM2C0022658Kidney Diseases1CTD_human
TgeneCNNM2C0036572Seizures1CTD_human;HPO
TgeneCNNM2C0039621Tetany1CTD_human
TgeneCNNM2C3151295HYPOMAGNESEMIA 6, RENAL1UNIPROT
TgeneCNNM2C4225333HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION1UNIPROT