|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for SLC2A8 |
Gene summary |
Gene information | Gene symbol | SLC2A8 | Gene ID | 29988 |
Gene name | solute carrier family 2 member 8 | |
Synonyms | GLUT8|GLUTX1 | |
Cytomap | 9q33.3 | |
Type of gene | protein-coding | |
Description | solute carrier family 2, facilitated glucose transporter member 8glucose transporter type 8glucose transporter type X1solute carrier family 2 (facilitated glucose transporter), member 8 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 23234877(Gene expression profiling of peripheral blood leukocytes shows consistent longitudinal downregulation of TOMM40 and upregulation of KIR2DL5A, PLOD1, and SLC2A8 among fast progressors in early Alzheimer's disease) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for SLC2A8 |
Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000419917.5 | SLC2A8-205:protein_coding:SLC2A8 | 2.250188e+00 | 1.146272e+00 | 8.892637e-03 | 3.157966e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SLC2A8 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_113491 | chr9 | 127399964:127400006:127403660:127403803:127403959:127404067 | 127403660:127403803 |
exon_skip_138477 | chr9 | 127399964:127400006:127402557:127402753:127403660:127403747 | 127402557:127402753 |
exon_skip_139612 | chr9 | 127397231:127397286:127397376:127397538:127397905:127398111 | 127397376:127397538 |
exon_skip_146936 | chr9 | 127404818:127404991:127405420:127405565:127407112:127407291 | 127405420:127405565 |
exon_skip_165617 | chr9 | 127397384:127397538:127397905:127398111:127399907:127400002 | 127397905:127398111 |
exon_skip_205012 | chr9 | 127404818:127404991:127405420:127405565:127407436:127407530 | 127405420:127405565 |
exon_skip_239471 | chr9 | 127397231:127397286:127399907:127400006:127403660:127403747 | 127399907:127400006 |
exon_skip_241561 | chr9 | 127397384:127397538:127397905:127398111:127399907:127400006 | 127397905:127398111 |
exon_skip_243493 | chr9 | 127397231:127397286:127397376:127397538:127399907:127400006 | 127397376:127397538 |
exon_skip_248473 | chr9 | 127403738:127403803:127403959:127404067:127404818:127404991 | 127403959:127404067 |
exon_skip_259586 | chr9 | 127404023:127404067:127404818:127404991:127407112:127407291 | 127404818:127404991 |
exon_skip_267705 | chr9 | 127399964:127400006:127402557:127402753:127403738:127403791 | 127402557:127402753 |
exon_skip_270412 | chr9 | 127403775:127403803:127403959:127404067:127404818:127404991 | 127403959:127404067 |
exon_skip_67068 | chr9 | 127404023:127404067:127404818:127404991:127405420:127405447 | 127404818:127404991 |
exon_skip_85204 | chr9 | 127397231:127397286:127397376:127397538:127399907:127400002 | 127397376:127397538 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SLC2A8 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000373371 | 127397376 | 127397538 | Frame-shift |
ENST00000373371 | 127402557 | 127402753 | Frame-shift |
ENST00000373371 | 127403959 | 127404067 | Frame-shift |
ENST00000373371 | 127405420 | 127405565 | Frame-shift |
ENST00000373371 | 127397905 | 127398111 | In-frame |
ENST00000373371 | 127404818 | 127404991 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000373371 | 127402557 | 127402753 | Frame-shift |
ENST00000373371 | 127403959 | 127404067 | Frame-shift |
ENST00000373371 | 127405420 | 127405565 | Frame-shift |
ENST00000373371 | 127397905 | 127398111 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000373371 | 127397376 | 127397538 | Frame-shift |
ENST00000373371 | 127402557 | 127402753 | Frame-shift |
ENST00000373371 | 127403959 | 127404067 | Frame-shift |
ENST00000373371 | 127405420 | 127405565 | Frame-shift |
ENST00000373371 | 127397905 | 127398111 | In-frame |
ENST00000373371 | 127404818 | 127404991 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SLC2A8 |
p-ENSG00000136856_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000373371 | 2189 | 477 | 127397905 | 127398111 | 310 | 515 | 73 | 142 |
ENST00000373371 | 2189 | 477 | 127404818 | 127404991 | 1067 | 1239 | 326 | 383 |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000373371 | 2189 | 477 | 127397905 | 127398111 | 310 | 515 | 73 | 142 |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000373371 | 2189 | 477 | 127397905 | 127398111 | 310 | 515 | 73 | 142 |
ENST00000373371 | 2189 | 477 | 127404818 | 127404991 | 1067 | 1239 | 326 | 383 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q9NY64 | 73 | 142 | 1 | 477 | Chain | ID=PRO_0000050375;Note=Solute carrier family 2%2C facilitated glucose transporter member 8 |
Q9NY64 | 73 | 142 | 92 | 96 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 118 | 127 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 71 | 91 | Transmembrane | Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 97 | 117 | Transmembrane | Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 128 | 148 | Transmembrane | Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 326 | 383 | 1 | 477 | Chain | ID=PRO_0000050375;Note=Solute carrier family 2%2C facilitated glucose transporter member 8 |
Q9NY64 | 326 | 383 | 349 | 349 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9NY64 | 326 | 383 | 377 | 377 | Sequence conflict | Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9NY64 | 326 | 383 | 341 | 367 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 326 | 383 | 320 | 340 | Transmembrane | Note=Helical%3B Name%3D9;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 326 | 383 | 368 | 388 | Transmembrane | Note=Helical%3B Name%3D10;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in MSBB. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q9NY64 | 73 | 142 | 1 | 477 | Chain | ID=PRO_0000050375;Note=Solute carrier family 2%2C facilitated glucose transporter member 8 |
Q9NY64 | 73 | 142 | 92 | 96 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 118 | 127 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 71 | 91 | Transmembrane | Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 97 | 117 | Transmembrane | Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 128 | 148 | Transmembrane | Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in Mayo. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q9NY64 | 73 | 142 | 1 | 477 | Chain | ID=PRO_0000050375;Note=Solute carrier family 2%2C facilitated glucose transporter member 8 |
Q9NY64 | 73 | 142 | 92 | 96 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 118 | 127 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 71 | 91 | Transmembrane | Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 97 | 117 | Transmembrane | Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 73 | 142 | 128 | 148 | Transmembrane | Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 326 | 383 | 1 | 477 | Chain | ID=PRO_0000050375;Note=Solute carrier family 2%2C facilitated glucose transporter member 8 |
Q9NY64 | 326 | 383 | 349 | 349 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9NY64 | 326 | 383 | 377 | 377 | Sequence conflict | Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q9NY64 | 326 | 383 | 341 | 367 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 326 | 383 | 320 | 340 | Transmembrane | Note=Helical%3B Name%3D9;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NY64 | 326 | 383 | 368 | 388 | Transmembrane | Note=Helical%3B Name%3D10;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in SLC2A8 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Top |
SNVs in the skipped exons for SLC2A8 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
Top |
AD stage-associated exon skippint events for SLC2A8 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC2A8 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
TC | exon_skip_270412 | rs10819291 | chr9:127424421 | 6.098496e-05 | 1.107019e-02 |
HCC | exon_skip_248473 | rs4837144 | chr9:127354547 | 8.573045e-10 | 2.579120e-07 |
HCC | exon_skip_138477 | rs4837144 | chr9:127354547 | 1.548354e-05 | 1.847684e-03 |
HCC | exon_skip_248473 | rs7863451 | chr9:127309965 | 2.831615e-05 | 3.106831e-03 |
HCC | exon_skip_248473 | rs4837146 | chr9:127362672 | 1.015287e-04 | 9.253021e-03 |
HCC | exon_skip_248473 | rs4466498 | chr9:127361465 | 1.252477e-04 | 1.108593e-02 |
HCC | exon_skip_248473 | rs4454390 | chr9:127361146 | 1.258960e-04 | 1.113006e-02 |
HCC | exon_skip_138477 | rs7037767 | chr9:127355862 | 1.557375e-04 | 1.323641e-02 |
HCC | exon_skip_138477 | rs3808838 | chr9:127395655 | 1.557375e-04 | 1.323641e-02 |
HCC | exon_skip_138477 | rs10987655 | chr9:127456093 | 3.350028e-04 | 2.468142e-02 |
HCC | exon_skip_138477 | rs4837154 | chr9:127457130 | 3.350028e-04 | 2.468142e-02 |
HCC | exon_skip_138477 | rs10760488 | chr9:127473173 | 3.350028e-04 | 2.468142e-02 |
HCC | exon_skip_248473 | rs7037767 | chr9:127355862 | 4.872071e-04 | 3.323474e-02 |
HCC | exon_skip_248473 | rs3808838 | chr9:127395655 | 4.872071e-04 | 3.323474e-02 |
HCC | exon_skip_138477 | rs4466498 | chr9:127361465 | 8.085027e-04 | 4.943806e-02 |
DLPFC | exon_skip_270412 | rs4837144 | chr9:127354547 | 2.638072e-08 | 5.693430e-06 |
DLPFC | exon_skip_270412 | rs7863451 | chr9:127309965 | 5.454316e-06 | 6.545297e-04 |
DLPFC | exon_skip_270412 | rs2246011 | chr9:127486606 | 4.604581e-04 | 3.021082e-02 |
DLPFC | exon_skip_270412 | rs7869023 | chr9:127439399 | 6.688167e-04 | 4.072955e-02 |
DLPFC | exon_skip_270412 | rs7859457 | chr9:127440317 | 6.688167e-04 | 4.072955e-02 |
DLPFC | exon_skip_270412 | rs2247573 | chr9:127448667 | 6.688167e-04 | 4.072955e-02 |
DLPFC | exon_skip_270412 | rs2244468 | chr9:127453000 | 6.688167e-04 | 4.072955e-02 |
DLPFC | exon_skip_270412 | rs2243906 | chr9:127457390 | 6.688167e-04 | 4.072955e-02 |
DLPFC | exon_skip_270412 | rs2243767 | chr9:127459109 | 6.688167e-04 | 4.072955e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for SLC2A8 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | PCBP4 | exon_skip_259684 | 4.621743e-01 | 9.778129e-10 |
CB | RBM45 | exon_skip_259684 | 6.368105e-01 | 2.393338e-19 |
CB | FUS | exon_skip_259684 | 4.057823e-01 | 1.226798e-07 |
CB | RBM4 | exon_skip_259684 | -5.278533e-01 | 1.027284e-12 |
CB | RBM6 | exon_skip_165617 | -4.486922e-01 | 3.030940e-08 |
CB | RBM4 | exon_skip_165617 | -5.454773e-01 | 3.821783e-12 |
CB | ZNF638 | exon_skip_182225 | -5.786340e-01 | 8.322603e-12 |
CB | RBM6 | exon_skip_182225 | -4.220062e-01 | 2.147941e-06 |
CB | SAMD4A | exon_skip_182225 | -4.531189e-01 | 2.898950e-07 |
CB | CNOT4 | exon_skip_182225 | -4.396483e-01 | 7.070509e-07 |
CB | RBM3 | exon_skip_182225 | 4.586459e-01 | 1.988352e-07 |
CB | PCBP1 | exon_skip_182225 | -4.202498e-01 | 2.391080e-06 |
CB | PCBP4 | exon_skip_182225 | 5.361967e-01 | 4.649959e-10 |
CB | HNRNPA2B1 | exon_skip_182225 | -4.573573e-01 | 2.172334e-07 |
CB | NUP42 | exon_skip_182225 | 4.788160e-01 | 4.740545e-08 |
CB | PABPC1 | exon_skip_182225 | 4.202353e-01 | 2.393189e-06 |
CB | RBM4 | exon_skip_182225 | -6.845596e-01 | 1.745169e-17 |
CB | RBM4B | exon_skip_182225 | -5.165288e-01 | 2.500942e-09 |
CB | ZNF638 | exon_skip_131541 | -5.651902e-01 | 6.577819e-12 |
CB | RBM6 | exon_skip_131541 | -4.410641e-01 | 2.630403e-07 |
CB | SAMD4A | exon_skip_131541 | -4.427363e-01 | 2.341227e-07 |
CB | CNOT4 | exon_skip_131541 | -4.420395e-01 | 2.457833e-07 |
CB | RBM3 | exon_skip_131541 | 4.025337e-01 | 3.260750e-06 |
CB | PCBP1 | exon_skip_131541 | -4.361877e-01 | 3.681108e-07 |
CB | PCBP4 | exon_skip_131541 | 5.231324e-01 | 3.877397e-10 |
CB | HNRNPA2B1 | exon_skip_131541 | -4.557025e-01 | 9.288386e-08 |
CB | NUP42 | exon_skip_131541 | 4.172313e-01 | 1.294732e-06 |
CB | RBM4 | exon_skip_131541 | -6.798834e-01 | 2.823818e-18 |
CB | RBM4B | exon_skip_131541 | -5.292130e-01 | 2.225573e-10 |
CB | SAMD4A | exon_skip_259586 | -4.795684e-01 | 7.798302e-09 |
CB | HNRNPF | exon_skip_259586 | -4.166148e-01 | 8.209811e-07 |
HCC | TARDBP | exon_skip_259684 | -4.102027e-01 | 2.931773e-12 |
HCC | SFPQ | exon_skip_259684 | -5.207068e-01 | 5.884896e-20 |
HCC | RBM6 | exon_skip_259684 | -5.044378e-01 | 1.216324e-18 |
HCC | PCBP1 | exon_skip_259684 | -4.114722e-01 | 2.475295e-12 |
HCC | EIF4G2 | exon_skip_259684 | -5.351736e-01 | 3.462128e-21 |
HCC | SRSF4 | exon_skip_259684 | -4.895814e-01 | 1.683998e-17 |
HCC | HNRNPF | exon_skip_259684 | -5.189700e-01 | 8.194786e-20 |
HCC | RBM4 | exon_skip_259684 | -5.404076e-01 | 1.200756e-21 |
HCC | ZC3H10 | exon_skip_259684 | -4.897239e-01 | 1.643065e-17 |
HCC | RBM4B | exon_skip_259684 | -5.179905e-01 | 9.869024e-20 |
PCC | SRSF4 | exon_skip_259684 | -4.652625e-01 | 1.626639e-12 |
PCC | HNRNPF | exon_skip_259684 | -4.930828e-01 | 4.425390e-14 |
PCC | RBM4 | exon_skip_259684 | -4.163909e-01 | 4.368424e-10 |
TC | RBM6 | exon_skip_165617 | -4.058338e-01 | 6.537787e-07 |
Top |
RelatedDrugs for SLC2A8 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for SLC2A8 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |