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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: 4298

FusionGeneSummary for BOLA2_FADS2

check button Fusion gene summary
Fusion gene informationFusion gene name: BOLA2_FADS2
Fusion gene ID: 4298
HgeneTgene
Gene symbol

BOLA2

FADS2

Gene ID

654483

9415

Gene namebolA family member 2Bfatty acid desaturase 2
SynonymsBOLA2D6D|DES6|FADSD6|LLCDL2|SLL0262|TU13
Cytomap

16p11.2

11q12.2

Type of geneprotein-codingprotein-coding
DescriptionbolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2Bfatty acid desaturase 2acyl-CoA 6-desaturasedelta-6 fatty acid desaturasedelta-6-desaturaselinoleoyl-CoA desaturase (delta-6-desaturase)-like 2
Modification date2018051920180519
UniProtAcc

Q9H3K6

O95864

Ensembl transtripts involved in fusion geneENST00000330978, ENST00000257261, 
ENST00000522056, ENST00000278840, 
ENST00000521849, ENST00000574708, 
ENST00000522639, ENST00000517839, 
Fusion gene scores* DoF score24 X 31 X 3=223216 X 7 X 7=784
# samples 3117
** MAII scorelog2(31/2232*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/784*10)=-2.20531890797751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BOLA2 [Title/Abstract] AND FADS2 [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
ChiTaRS3.1BU623713BOLA2chr16

30004581

+FADS2chr11

61633216

-
* 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-3UTRENST00000330978ENST00000257261BOLA2chr16

30004581

+FADS2chr11

61633216

-
intron-3UTRENST00000330978ENST00000522056BOLA2chr16

30004581

+FADS2chr11

61633216

-
intron-3UTRENST00000330978ENST00000278840BOLA2chr16

30004581

+FADS2chr11

61633216

-
intron-intronENST00000330978ENST00000521849BOLA2chr16

30004581

+FADS2chr11

61633216

-
intron-intronENST00000330978ENST00000574708BOLA2chr16

30004581

+FADS2chr11

61633216

-
intron-intronENST00000330978ENST00000522639BOLA2chr16

30004581

+FADS2chr11

61633216

-
intron-intronENST00000330978ENST00000517839BOLA2chr16

30004581

+FADS2chr11

61633216

-

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FusionProtFeatures for BOLA2_FADS2


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

Q9H3K6

FADS2

O95864

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}. Component of a lipid metabolic pathway that catalyzesbiosynthesis of highly unsaturated fatty acids (HUFA) fromprecursor essential polyunsaturated fatty acids (PUFA) linoleicacid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3).Catalyzes the first and rate limiting step in this pathway whichis the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3)respectively and other desaturation steps. Highly unsaturatedfatty acids (HUFA) play pivotal roles in many biologicalfunctions. It catalizes as well the introduction of a cis doublebond in palmitate to produce the mono-unsaturated fatty acidsapienate, the most abundant fatty acid in sebum.{ECO:0000269|PubMed:12713571, ECO:0000269|PubMed:9867867}.

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 BOLA2_FADS2


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 BOLA2_FADS2


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 BOLA2_FADS2


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 BOLA2_FADS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFADS2C0005586Bipolar Disorder1PSYGENET
TgeneFADS2C0009404Colorectal Neoplasms1CTD_human
TgeneFADS2C0023794Lipoidosis1CTD_human
TgeneFADS2C0036341Schizophrenia1PSYGENET
TgeneFADS2C4277682Chemical and Drug Induced Liver Injury1CTD_human