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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 ASPSCR1 |
Gene summary |
Gene information | Gene symbol | ASPSCR1 | Gene ID | 79058 |
Gene name | ASPSCR1 tether for SLC2A4, UBX domain containing | |
Synonyms | ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9 | |
Cytomap | 17q25.3 | |
Type of gene | protein-coding | |
Description | tether containing UBX domain for GLUT4ASPSCR1, UBX domain containing tether for SLC2A4UBX domain protein 9UBX domain-containing protein 9alveolar soft part sarcoma chromosomal region candidate gene 1 proteinalveolar soft part sarcoma chromosome regio | |
Modification date | 20200313 | |
UniProtAcc | C9JAL9, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for ASPSCR1 |
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 |
PCC | UP | ENST00000585274.1 | ASPSCR1-221:retained_intron:ASPSCR1 | 1.898671e+00 | 1.148046e+00 | 7.266413e-04 | 2.093908e-02 |
PCC | UP | ENST00000578361.5 | ASPSCR1-206:retained_intron:ASPSCR1 | 1.702151e+00 | 2.133637e+00 | 2.928852e-03 | 4.951123e-02 |
PG | UP | ENST00000578361.5 | ASPSCR1-206:retained_intron:ASPSCR1 | 1.567746e+00 | 1.113082e+00 | 3.504598e-03 | 3.560170e-02 |
CB | DOWN | ENST00000578361.5 | ASPSCR1-206:retained_intron:ASPSCR1 | 1.249324e+01 | -2.026956e+00 | 6.468244e-11 | 4.385744e-09 |
CB | DOWN | ENST00000583744.1 | ASPSCR1-218:protein_coding:ASPSCR1 | 8.477749e+00 | -2.160129e+00 | 1.028872e-06 | 1.533742e-05 |
CB | DOWN | ENST00000585274.1 | ASPSCR1-221:retained_intron:ASPSCR1 | 1.619125e+01 | -1.056015e+00 | 5.986669e-06 | 6.825230e-05 |
TC | DOWN | ENST00000585274.1 | ASPSCR1-221:retained_intron:ASPSCR1 | 1.155711e+01 | -1.070617e+00 | 1.543216e-05 | 3.664400e-04 |
TC | DOWN | ENST00000578361.5 | ASPSCR1-206:retained_intron:ASPSCR1 | 8.237331e+00 | -1.725787e+00 | 4.755624e-05 | 8.933013e-04 |
TC | DOWN | ENST00000581608.5 | ASPSCR1-210:retained_intron:ASPSCR1 | 9.575729e+00 | -1.639784e+00 | 7.693032e-03 | 4.613807e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ASPSCR1 |
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_103256 | chr17 | 81977705:81977748:81983554:81983668:81985507:81985607 | 81983554:81983668 |
exon_skip_142387 | chr17 | 82016476:82016527:82016800:82016869:82016941:82017037 | 82016800:82016869 |
exon_skip_171886 | chr17 | 81979184:81979239:81982614:81982676:81983554:81983626 | 81982614:81982676 |
exon_skip_179722 | chr17 | 81977705:81977748:81979184:81979239:81983554:81983626 | 81979184:81979239 |
exon_skip_221096 | chr17 | 81977705:81977748:81979184:81979239:81982614:81982676 | 81979184:81979239 |
exon_skip_2306 | chr17 | 82009486:82009567:82009932:82010052:82010802:82010825 | 82009932:82010052 |
exon_skip_262729 | chr17 | 82012234:82012283:82015075:82015356:82016476:82016527 | 82015075:82015356 |
exon_skip_286874 | chr17 | 81995992:81996065:81996420:81996846:82009037:82009191 | 81996420:81996846 |
exon_skip_8918 | chr17 | 82012231:82012283:82015075:82015356:82016476:82016527 | 82015075:82015356 |
exon_skip_9526 | chr17 | 82012231:82012283:82016476:82016527:82016800:82016869 | 82016476:82016527 |
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 |
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Open reading frame (ORF) annotation in the exon skipping event for ASPSCR1 |
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 |
ENST00000306739 | 81979184 | 81979239 | Frame-shift |
ENST00000306739 | 81996420 | 81996846 | Frame-shift |
ENST00000306739 | 82016476 | 82016527 | Frame-shift |
ENST00000306739 | 82016800 | 82016869 | Frame-shift |
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 |
ENST00000306739 | 81979184 | 81979239 | Frame-shift |
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 |
ENST00000306739 | 81979184 | 81979239 | Frame-shift |
ENST00000306739 | 81996420 | 81996846 | Frame-shift |
ENST00000306739 | 82016476 | 82016527 | Frame-shift |
ENST00000306739 | 82016800 | 82016869 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ASPSCR1 |
p-ENSG00000169696_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 |
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 |
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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ASPSCR1 |
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 |
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SNVs in the skipped exons for ASPSCR1 |
- 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 |
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AD stage-associated exon skippint events for ASPSCR1 |
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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASPSCR1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ASPSCR1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | PCBP4 | exon_skip_179722 | 4.179141e-01 | 4.228067e-08 |
CB | TRA2A | exon_skip_171886 | -4.398624e-01 | 6.585451e-09 |
IFG | PCBP4 | exon_skip_179722 | -4.544072e-01 | 2.569876e-02 |
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RelatedDrugs for ASPSCR1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ASPSCR1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |