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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: 25549

FusionGeneSummary for OSBPL3_SLC2A1

check button Fusion gene summary
Fusion gene informationFusion gene name: OSBPL3_SLC2A1
Fusion gene ID: 25549
HgeneTgene
Gene symbol

OSBPL3

SLC2A1

Gene ID

26031

6513

Gene nameoxysterol binding protein like 3solute carrier family 2 member 1
SynonymsORP-3|ORP3|OSBP3CSE|DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED|SDCHCN
Cytomap

7p15.3

1p34.2

Type of geneprotein-codingprotein-coding
Descriptionoxysterol-binding protein-related protein 3OSBP-related protein 3solute carrier family 2, facilitated glucose transporter member 1choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)glucose transporter type 1, erythrocyte/brainhepG2 glucose transporterhuman T-cell leukemia virus (I and II) r
Modification date2018052320180527
UniProtAcc

Q9H4L5

P11166

Ensembl transtripts involved in fusion geneENST00000313367, ENST00000431825, 
ENST00000352860, ENST00000353930, 
ENST00000396431, ENST00000409069, 
ENST00000396429, ENST00000487020, 
ENST00000426263, ENST00000475162, 
ENST00000415851, ENST00000372500, 
Fusion gene scores* DoF score8 X 3 X 5=1205 X 4 X 3=60
# samples 75
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: OSBPL3 [Title/Abstract] AND SLC2A1 [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
TgeneSLC2A1

GO:0065003

protein-containing complex assembly

18347014

TgeneSLC2A1

GO:1904659

glucose transmembrane transport

18245775


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
TCGARVSARCTCGA-DX-A8BS-01AOSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
* 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
5UTR-3CDSENST00000313367ENST00000426263OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000313367ENST00000475162OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000313367ENST00000415851OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000313367ENST00000372500OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-3CDSENST00000431825ENST00000426263OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000431825ENST00000475162OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000431825ENST00000415851OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000431825ENST00000372500OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-3CDSENST00000352860ENST00000426263OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000352860ENST00000475162OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000352860ENST00000415851OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000352860ENST00000372500OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-3CDSENST00000353930ENST00000426263OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000353930ENST00000475162OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000353930ENST00000415851OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
5UTR-intronENST00000353930ENST00000372500OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-3CDSENST00000396431ENST00000426263OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000396431ENST00000475162OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000396431ENST00000415851OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000396431ENST00000372500OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-3CDSENST00000409069ENST00000426263OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000409069ENST00000475162OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000409069ENST00000415851OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000409069ENST00000372500OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-3CDSENST00000396429ENST00000426263OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000396429ENST00000475162OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000396429ENST00000415851OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000396429ENST00000372500OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-3CDSENST00000487020ENST00000426263OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000487020ENST00000475162OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000487020ENST00000415851OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-
intron-intronENST00000487020ENST00000372500OSBPL3chr7

25019505

-SLC2A1chr1

43408992

-

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FusionProtFeatures for OSBPL3_SLC2A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OSBPL3

Q9H4L5

SLC2A1

P11166

Facilitative glucose transporter. This isoform may beresponsible for constitutive or basal glucose uptake. Has a verybroad substrate specificity; can transport a wide range of aldosesincluding both pentoses and hexoses. {ECO:0000269|PubMed:18245775,ECO:0000269|PubMed:19449892}.

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 OSBPL3_SLC2A1


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 OSBPL3_SLC2A1


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
OSBPL3YWHAG, YWHAB, SFN, ELAVL1, YWHAE, VAPB, ENO1, NXF1, ARRDC1, TTI2, ADCYAP1, AURKA, SMC1A, VAPA, MMGT1, GLTSCR2, ZFPL1, CPNE2, TSPYL1, ACTR3B, HDAC11, ILVBL, JPH4, PRICKLE3, TRAF1, HIF1AN, KCTD3, CBY1SLC2A1COPS6, PDIA3, STOM, PTK2B, CANX, CALR, GIPC1, CD55, VCAM1, ATF2, ITGA4, VHL, TXNIP, ILK, IRAK1, JAK2, TYK2, HSPB2, STK17B, NCSTN, NEIL3, TRIM25


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 OSBPL3_SLC2A1


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 OSBPL3_SLC2A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC2A1C1847501Glut1 Deficiency Syndrome14CTD_human;ORPHANET;UNIPROT
TgeneSLC2A1C1842534DYSTONIA 18 (disorder)11CTD_human;ORPHANET;UNIPROT
TgeneSLC2A1C3553859EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 124UNIPROT
TgeneSLC2A1C0008073Developmental Disabilities3CTD_human
TgeneSLC2A1C0036572Seizures3CTD_human;HPO
TgeneSLC2A1C0025958Microcephaly2CTD_human
TgeneSLC2A1C1837206Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly2ORPHANET;UNIPROT
TgeneSLC2A1C0004134Ataxia1CTD_human
TgeneSLC2A1C0007124Noninfiltrating Intraductal Carcinoma1CTD_human
TgeneSLC2A1C0007134Renal Cell Carcinoma1CTD_human
TgeneSLC2A1C0007621Neoplastic Cell Transformation1CTD_human
TgeneSLC2A1C0009375Colonic Neoplasms1CTD_human
TgeneSLC2A1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneSLC2A1C0023903Liver neoplasms1CTD_human
TgeneSLC2A1C0025521Inborn Errors of Metabolism1CTD_human
TgeneSLC2A1C0027765nervous system disorder1CTD_human
TgeneSLC2A1C0029408Degenerative polyarthritis1CTD_human
TgeneSLC2A1C0031149Peritoneal Neoplasms1CTD_human
TgeneSLC2A1C0345967Malignant mesothelioma1CTD_human
TgeneSLC2A1C0919267ovarian neoplasm1CTD_human
TgeneSLC2A1C1176475Ductal Carcinoma1CTD_human
TgeneSLC2A1C1458155Mammary Neoplasms1CTD_human
TgeneSLC2A1C2239176Liver carcinoma1CTD_human
TgeneSLC2A1C3714756Intellectual Disability1CTD_human;HPO