![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 25549 |
FusionGeneSummary for OSBPL3_SLC2A1 |
![]() |
Fusion gene information | Fusion gene name: OSBPL3_SLC2A1 | Fusion gene ID: 25549 | Hgene | Tgene | Gene symbol | OSBPL3 | SLC2A1 | Gene ID | 26031 | 6513 |
Gene name | oxysterol binding protein like 3 | solute carrier family 2 member 1 | |
Synonyms | ORP-3|ORP3|OSBP3 | CSE|DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED|SDCHCN | |
Cytomap | 7p15.3 | 1p34.2 | |
Type of gene | protein-coding | protein-coding | |
Description | oxysterol-binding protein-related protein 3OSBP-related protein 3 | solute 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 date | 20180523 | 20180527 | |
UniProtAcc | Q9H4L5 | P11166 | |
Ensembl transtripts involved in fusion gene | ENST00000313367, ENST00000431825, ENST00000352860, ENST00000353930, ENST00000396431, ENST00000409069, ENST00000396429, ENST00000487020, | ENST00000426263, ENST00000475162, ENST00000415851, ENST00000372500, | |
Fusion gene scores | * DoF score | 8 X 3 X 5=120 | 5 X 4 X 3=60 |
# samples | 7 | 5 | |
** MAII score | log2(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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SLC2A1 | GO:0065003 | protein-containing complex assembly | 18347014 |
Tgene | SLC2A1 | GO:1904659 | glucose transmembrane transport | 18245775 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SARC | TCGA-DX-A8BS-01A | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000313367 | ENST00000426263 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000313367 | ENST00000475162 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000313367 | ENST00000415851 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000313367 | ENST00000372500 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-3CDS | ENST00000431825 | ENST00000426263 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000431825 | ENST00000475162 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000431825 | ENST00000415851 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000431825 | ENST00000372500 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-3CDS | ENST00000352860 | ENST00000426263 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000352860 | ENST00000475162 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000352860 | ENST00000415851 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000352860 | ENST00000372500 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-3CDS | ENST00000353930 | ENST00000426263 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000353930 | ENST00000475162 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000353930 | ENST00000415851 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
5UTR-intron | ENST00000353930 | ENST00000372500 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-3CDS | ENST00000396431 | ENST00000426263 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000396431 | ENST00000475162 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000396431 | ENST00000415851 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000396431 | ENST00000372500 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-3CDS | ENST00000409069 | ENST00000426263 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000409069 | ENST00000475162 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000409069 | ENST00000415851 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000409069 | ENST00000372500 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-3CDS | ENST00000396429 | ENST00000426263 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000396429 | ENST00000475162 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000396429 | ENST00000415851 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000396429 | ENST00000372500 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-3CDS | ENST00000487020 | ENST00000426263 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000487020 | ENST00000475162 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000487020 | ENST00000415851 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
intron-intron | ENST00000487020 | ENST00000372500 | OSBPL3 | chr7 | 25019505 | - | SLC2A1 | chr1 | 43408992 | - |
Top |
FusionProtFeatures for OSBPL3_SLC2A1 |
![]() |
Hgene | Tgene |
OSBPL3 | SLC2A1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for OSBPL3_SLC2A1 |
![]() (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 OSBPL3_SLC2A1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
OSBPL3 | YWHAG, 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, CBY1 | SLC2A1 | COPS6, PDIA3, STOM, PTK2B, CANX, CALR, GIPC1, CD55, VCAM1, ATF2, ITGA4, VHL, TXNIP, ILK, IRAK1, JAK2, TYK2, HSPB2, STK17B, NCSTN, NEIL3, TRIM25 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for OSBPL3_SLC2A1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for OSBPL3_SLC2A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SLC2A1 | C1847501 | Glut1 Deficiency Syndrome | 14 | CTD_human;ORPHANET;UNIPROT |
Tgene | SLC2A1 | C1842534 | DYSTONIA 18 (disorder) | 11 | CTD_human;ORPHANET;UNIPROT |
Tgene | SLC2A1 | C3553859 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 | 4 | UNIPROT |
Tgene | SLC2A1 | C0008073 | Developmental Disabilities | 3 | CTD_human |
Tgene | SLC2A1 | C0036572 | Seizures | 3 | CTD_human;HPO |
Tgene | SLC2A1 | C0025958 | Microcephaly | 2 | CTD_human |
Tgene | SLC2A1 | C1837206 | Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly | 2 | ORPHANET;UNIPROT |
Tgene | SLC2A1 | C0004134 | Ataxia | 1 | CTD_human |
Tgene | SLC2A1 | C0007124 | Noninfiltrating Intraductal Carcinoma | 1 | CTD_human |
Tgene | SLC2A1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | SLC2A1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Tgene | SLC2A1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | SLC2A1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Tgene | SLC2A1 | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | SLC2A1 | C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
Tgene | SLC2A1 | C0027765 | nervous system disorder | 1 | CTD_human |
Tgene | SLC2A1 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | SLC2A1 | C0031149 | Peritoneal Neoplasms | 1 | CTD_human |
Tgene | SLC2A1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Tgene | SLC2A1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Tgene | SLC2A1 | C1176475 | Ductal Carcinoma | 1 | CTD_human |
Tgene | SLC2A1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | SLC2A1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | SLC2A1 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |