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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FGFR3-OSBPL1A (FusionGDB2 ID:30214)

Fusion Gene Summary for FGFR3-OSBPL1A

check button Fusion gene summary
Fusion gene informationFusion gene name: FGFR3-OSBPL1A
Fusion gene ID: 30214
HgeneTgene
Gene symbol

FGFR3

OSBPL1A

Gene ID

2261

114876

Gene namefibroblast growth factor receptor 3oxysterol binding protein like 1A
SynonymsACH|CD333|CEK2|HSFGFR3EX|JTK4ORP-1|ORP1|OSBPL1B
Cytomap

4p16.3

18q11.2

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3 variant 4fibroblast growth factor receptor 3-Shydroxyaryl-protein kinasetyrosine kinase JTK4oxysterol-binding protein-related protein 1OSBP-related protein 1oxysterol binding protein-like 1Boxysterol-binding protein-related protein 1 variant 1oxysterol-binding protein-related protein 1 variant 2
Modification date2020031320200313
UniProtAcc

P22607

.
Ensembl transtripts involved in fusion geneENST00000481110, ENST00000440486, 
ENST00000412135, ENST00000340107, 
ENST00000260795, ENST00000352904, 
ENST00000474521, 		ENST00000319481, 
ENST00000399443, ENST00000357041, 
ENST00000399441, ENST00000582618, 
Fusion gene scores* DoF score10 X 22 X 14=308018 X 15 X 10=2700
# samples 3319
** MAII scorelog2(33/3080*10)=-3.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/2700*10)=-3.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGFR3 [Title/Abstract] AND OSBPL1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGFR3(1795770)-OSBPL1A(21761243), # samples:1
Anticipated loss of major functional domain due to fusion event.FGFR3-OSBPL1A seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
FGFR3-OSBPL1A seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
FGFR3-OSBPL1A seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneFGFR3

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044

HgeneFGFR3

GO:0018108

peptidyl-tyrosine phosphorylation

11294897

HgeneFGFR3

GO:0046777

protein autophosphorylation

11294897


check buttonFusion gene breakpoints across FGFR3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across OSBPL1A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-AO-A1KT-01AFGFR3chr4

1795770

+OSBPL1Achr18

21761243

-


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Fusion Gene ORF analysis for FGFR3-OSBPL1A

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
Frame-shiftENST00000481110ENST00000319481FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000481110ENST00000399443FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000481110ENST00000357041FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000481110ENST00000399441FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000481110ENST00000582618FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000440486ENST00000319481FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000440486ENST00000399443FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000440486ENST00000357041FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000440486ENST00000399441FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000440486ENST00000582618FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000412135ENST00000319481FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000412135ENST00000399443FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000412135ENST00000357041FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000412135ENST00000399441FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000412135ENST00000582618FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000340107ENST00000319481FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000340107ENST00000399443FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000340107ENST00000357041FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000340107ENST00000399441FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000340107ENST00000582618FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000260795ENST00000319481FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000260795ENST00000399443FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000260795ENST00000357041FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000260795ENST00000399441FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000260795ENST00000582618FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000352904ENST00000319481FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000352904ENST00000399443FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
Frame-shiftENST00000352904ENST00000357041FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000352904ENST00000399441FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
5CDS-intronENST00000352904ENST00000582618FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
intron-3CDSENST00000474521ENST00000319481FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
intron-3CDSENST00000474521ENST00000399443FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
intron-3CDSENST00000474521ENST00000357041FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
intron-intronENST00000474521ENST00000399441FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-
intron-intronENST00000474521ENST00000582618FGFR3chr4

1795770

+OSBPL1Achr18

21761243

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FGFR3-OSBPL1A


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FGFR3-OSBPL1A


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FGFR3

P22607

.
FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling. {ECO:0000269|PubMed:10611230, ECO:0000269|PubMed:11294897, ECO:0000269|PubMed:11703096, ECO:0000269|PubMed:14534538, ECO:0000269|PubMed:16410555, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17145761, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17509076, ECO:0000269|PubMed:17561467, ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:19286672, ECO:0000269|PubMed:8663044}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for FGFR3-OSBPL1A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FGFR3-OSBPL1A


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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Related Drugs for FGFR3-OSBPL1A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFGFR3P22607DB06589PazopanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB06589PazopanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for FGFR3-OSBPL1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGFR3C0001080Achondroplasia13CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C0410529Hypochondroplasia (disorder)10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C1864436Muenke Syndrome9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C1868678THANATOPHORIC DYSPLASIA, TYPE I (disorder)9CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR3C2677099CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)7CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR3C0005684Malignant neoplasm of urinary bladder6CGI;CTD_human;UNIPROT
HgeneFGFR3C0005695Bladder Neoplasm4CGI;CTD_human
HgeneFGFR3C1300257Thanatophoric dysplasia, type 24CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR3C1864852CATSHL syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C2674173Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C0265269Lacrimoauriculodentodigital syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C0007138Carcinoma, Transitional Cell1CTD_human
HgeneFGFR3C0008924Cleft upper lip1CTD_human
HgeneFGFR3C0008925Cleft Palate1CTD_human
HgeneFGFR3C0014544Epilepsy1GENOMICS_ENGLAND
HgeneFGFR3C0014547Epilepsies, Partial1GENOMICS_ENGLAND
HgeneFGFR3C0022603Seborrheic keratosis1UNIPROT
HgeneFGFR3C0026764Multiple Myeloma1CGI;CTD_human
HgeneFGFR3C0036631Seminoma1CTD_human
HgeneFGFR3C0039743Thanatophoric Dysplasia1CTD_human
HgeneFGFR3C0152423Congenital small ears1GENOMICS_ENGLAND
HgeneFGFR3C0206726gliosarcoma1ORPHANET
HgeneFGFR3C0221356Brachycephaly1ORPHANET
HgeneFGFR3C0265529Plagiocephaly1ORPHANET
HgeneFGFR3C0334082NEVUS, EPIDERMAL (disorder)1CTD_human;UNIPROT
HgeneFGFR3C0334588Giant Cell Glioblastoma1ORPHANET
HgeneFGFR3C0406803Syringocystadenoma Papilliferum1GENOMICS_ENGLAND
HgeneFGFR3C1336708Testicular Germ Cell Tumor1CTD_human;UNIPROT
HgeneFGFR3C1837218Cleft palate, isolated1CTD_human
HgeneFGFR3C4048328cervical cancer1CTD_human;UNIPROT