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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: 13039

FusionGeneSummary for FBN2_NIPAL1

check button Fusion gene summary
Fusion gene informationFusion gene name: FBN2_NIPAL1
Fusion gene ID: 13039
HgeneTgene
Gene symbol

FBN2

NIPAL1

Gene ID

2201

152519

Gene namefibrillin 2NIPA like domain containing 1
SynonymsCCA|DA9|EOMDNPAL1
Cytomap

5q23.3

4p12

Type of geneprotein-codingprotein-coding
Descriptionfibrillin-2fibrillin 5magnesium transporter NIPA3NIPA-like protein 1non-imprinted in Prader-Willi/Angelman syndrome region protein 3
Modification date2018052320180523
UniProtAcc

P35556

Q6NVV3

Ensembl transtripts involved in fusion geneENST00000508053, ENST00000262464, 
ENST00000507835, ENST00000508989, 
ENST00000511489, 
ENST00000508180, 
ENST00000295461, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 21
** MAII scorelog2(2/8*10)=1.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: FBN2 [Title/Abstract] AND NIPAL1 [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
ChiTaRS3.1BF991099FBN2chr5

127686613

+NIPAL1chr4

48027148

+
* 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-3UTRENST00000508053ENST00000508180FBN2chr5

127686613

+NIPAL1chr4

48027148

+
intron-3UTRENST00000508053ENST00000295461FBN2chr5

127686613

+NIPAL1chr4

48027148

+
intron-3UTRENST00000262464ENST00000508180FBN2chr5

127686613

+NIPAL1chr4

48027148

+
intron-3UTRENST00000262464ENST00000295461FBN2chr5

127686613

+NIPAL1chr4

48027148

+
intron-3UTRENST00000507835ENST00000508180FBN2chr5

127686613

+NIPAL1chr4

48027148

+
intron-3UTRENST00000507835ENST00000295461FBN2chr5

127686613

+NIPAL1chr4

48027148

+
intron-3UTRENST00000508989ENST00000508180FBN2chr5

127686613

+NIPAL1chr4

48027148

+
intron-3UTRENST00000508989ENST00000295461FBN2chr5

127686613

+NIPAL1chr4

48027148

+
intron-3UTRENST00000511489ENST00000508180FBN2chr5

127686613

+NIPAL1chr4

48027148

+
intron-3UTRENST00000511489ENST00000295461FBN2chr5

127686613

+NIPAL1chr4

48027148

+

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FusionProtFeatures for FBN2_NIPAL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBN2

P35556

NIPAL1

Q6NVV3

Fibrillin-2: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occureither in association with elastin or in elastin-free bundles.Fibrillin-2-containing microfibrils regulate the early process ofelastic fiber assembly. Regulates osteoblast maturation bycontrolling TGF-beta bioavailability and calibrating TGF-beta andBMP levels, respectively. {ECO:0000250|UniProtKB:Q61555}. Acts as a Mg(2+) transporter. Can also transport otherdivalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+)and Co(2+) but to a much less extent than Mg(2+) (By similarity).{ECO:0000250}.

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 FBN2_NIPAL1


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 FBN2_NIPAL1


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 FBN2_NIPAL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFBN2P35556DB11093Calcium CitrateFibrillin-2small moleculeapproved
HgeneFBN2P35556DB11348Calcium PhosphateFibrillin-2small moleculeapproved

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RelatedDiseases for FBN2_NIPAL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBN2C0220668Congenital contractural arachnodactyly9CTD_human;ORPHANET;UNIPROT
HgeneFBN2C0009404Colorectal Neoplasms1CTD_human
HgeneFBN2C4015286MACULAR DEGENERATION, EARLY-ONSET1UNIPROT