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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 SMUG1 |
Gene summary |
Gene information | Gene symbol | SMUG1 | Gene ID | 23583 |
Gene name | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
Synonyms | FDG|HMUDG|UNG3 | |
Cytomap | 12q13.13 | |
Type of gene | protein-coding | |
Description | single-strand selective monofunctional uracil DNA glycosylase | |
Modification date | 20200327 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
SMUG1 | GO:0006284 | base-excision repair | 12161446 |
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Gene structures and expression levels for SMUG1 |
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 | DOWN | ENST00000511854.1 | SMUG1-219:retained_intron:SMUG1 | 9.271144e-01 | -2.596559e+00 | 5.059397e-04 | 2.909787e-03 |
CB | DOWN | ENST00000635234.1 | SMUG1-224:lncRNA:SMUG1 | 9.261060e-01 | -1.056070e+00 | 1.204050e-02 | 4.042511e-02 |
CB | DOWN | ENST00000505662.1 | SMUG1-211:lncRNA:SMUG1 | 1.181477e+01 | -1.355093e+00 | 1.319832e-02 | 4.351850e-02 |
TC | DOWN | ENST00000511854.1 | SMUG1-219:retained_intron:SMUG1 | 1.553444e+00 | -2.032658e+00 | 2.896244e-03 | 2.219599e-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 SMUG1 |
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_111538 | chr12 | 54182585:54182623:54183656:54183959:54188951:54188972 | 54183656:54183959 |
exon_skip_112075 | chr12 | 54183765:54183959:54188515:54188596:54188951:54188972 | 54188515:54188596 |
exon_skip_117014 | chr12 | 54183879:54183959:54186847:54187011:54187819:54187902 | 54186847:54187011 |
exon_skip_13382 | chr12 | 54183879:54183959:54188515:54188596:54188951:54188972 | 54188515:54188596 |
exon_skip_14499 | chr12 | 54183695:54183959:54186847:54187011:54187819:54187905 | 54186847:54187011 |
exon_skip_160208 | chr12 | 54183695:54183959:54186847:54187011:54187819:54187840 | 54186847:54187011 |
exon_skip_198863 | chr12 | 54172025:54172109:54188515:54188596:54188951:54188972 | 54188515:54188596 |
exon_skip_221676 | chr12 | 54183879:54183959:54187819:54187905:54188951:54188972 | 54187819:54187905 |
exon_skip_226366 | chr12 | 54186983:54187011:54187819:54187905:54188951:54188972 | 54187819:54187905 |
exon_skip_22958 | chr12 | 54183924:54183959:54187819:54187905:54188951:54188972 | 54187819:54187905 |
exon_skip_24189 | chr12 | 54183765:54183959:54186847:54187011:54187819:54187905 | 54186847:54187011 |
exon_skip_250372 | chr12 | 54183924:54183959:54188515:54188596:54188951:54188972 | 54188515:54188596 |
exon_skip_252563 | chr12 | 54183765:54183959:54187819:54187905:54188951:54188974 | 54187819:54187905 |
exon_skip_260217 | chr12 | 54187819:54187905:54188511:54188596:54188726:54188957 | 54188511:54188596 |
exon_skip_271743 | chr12 | 54172025:54172109:54182504:54182623:54183656:54183933 | 54182504:54182623 |
exon_skip_291153 | chr12 | 54183765:54183959:54187819:54187905:54188515:54188596 | 54187819:54187905 |
exon_skip_35071 | chr12 | 54182098:54182623:54183656:54183959:54188951:54188985 | 54183656:54183959 |
exon_skip_46939 | chr12 | 54183924:54183959:54186847:54187011:54187819:54187840 | 54186847:54187011 |
exon_skip_50735 | chr12 | 54183765:54183959:54187819:54187905:54188951:54188972 | 54187819:54187905 |
exon_skip_56312 | chr12 | 54183765:54183959:54186847:54187011:54187819:54187840 | 54186847:54187011 |
exon_skip_69854 | chr12 | 54186847:54187011:54187819:54187905:54188951:54188972 | 54187819:54187905 |
exon_skip_75124 | chr12 | 54183765:54183959:54187819:54187905:54188511:54188596 | 54187819:54187905 |
exon_skip_76400 | chr12 | 54183879:54183959:54187819:54187905:54188515:54188596 | 54187819:54187905 |
exon_skip_76516 | chr12 | 54183924:54183959:54187819:54187905:54188515:54188596 | 54187819:54187905 |
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 SMUG1 |
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 |
ENST00000508394 | 54183656 | 54183959 | 3UTR-3CDS |
ENST00000337581 | 54187819 | 54187905 | 3UTR-3UTR |
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 |
ENST00000508394 | 54183656 | 54183959 | 3UTR-3CDS |
ENST00000337581 | 54187819 | 54187905 | 3UTR-3UTR |
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 |
ENST00000508394 | 54183656 | 54183959 | 3UTR-3CDS |
ENST00000337581 | 54187819 | 54187905 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for SMUG1 |
p-ENSG00000123415_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 SMUG1 |
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 |
Mayo | ENST00000337581 | 54187819 | 54187905 | hsa-miR-556-5p | chr12:54187893-54187900 | 8mer-1a | chr12:54187879-54187900 | 152.00 | -12.46 |
Mayo | ENST00000337581 | 54187819 | 54187905 | hsa-miR-6072 | chr12:54187844-54187851 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
Mayo | ENST00000337581 | 54187819 | 54187905 | hsa-miR-3167 | chr12:54187853-54187860 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
Mayo | ENST00000337581 | 54187819 | 54187905 | hsa-miR-6891-3p | chr12:54187844-54187851 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
Mayo | ENST00000337581 | 54187819 | 54187905 | hsa-miR-5004-3p | chr12:54187855-54187862 | 8mer-1a | chr12:54187839-54187862 | 152.00 | -16.84 |
Mayo | ENST00000337581 | 54187819 | 54187905 | hsa-miR-6875-3p | chr12:54187849-54187856 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
Mayo | ENST00000337581 | 54187819 | 54187905 | hsa-miR-876-5p | chr12:54187853-54187860 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
Mayo | ENST00000337581 | 54187819 | 54187905 | hsa-miR-27b-5p | chr12:54187891-54187898 | 8mer-1a | chr12:54187879-54187900 | 152.00 | -12.46 |
MSBB | ENST00000337581 | 54187819 | 54187905 | hsa-miR-556-5p | chr12:54187893-54187900 | 8mer-1a | chr12:54187879-54187900 | 152.00 | -12.46 |
MSBB | ENST00000337581 | 54187819 | 54187905 | hsa-miR-6072 | chr12:54187844-54187851 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
MSBB | ENST00000337581 | 54187819 | 54187905 | hsa-miR-3167 | chr12:54187853-54187860 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
MSBB | ENST00000337581 | 54187819 | 54187905 | hsa-miR-6891-3p | chr12:54187844-54187851 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
MSBB | ENST00000337581 | 54187819 | 54187905 | hsa-miR-5004-3p | chr12:54187855-54187862 | 8mer-1a | chr12:54187839-54187862 | 152.00 | -16.84 |
MSBB | ENST00000337581 | 54187819 | 54187905 | hsa-miR-6875-3p | chr12:54187849-54187856 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
MSBB | ENST00000337581 | 54187819 | 54187905 | hsa-miR-876-5p | chr12:54187853-54187860 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
MSBB | ENST00000337581 | 54187819 | 54187905 | hsa-miR-27b-5p | chr12:54187891-54187898 | 8mer-1a | chr12:54187879-54187900 | 152.00 | -12.46 |
ROSMAP | ENST00000337581 | 54187819 | 54187905 | hsa-miR-556-5p | chr12:54187893-54187900 | 8mer-1a | chr12:54187879-54187900 | 152.00 | -12.46 |
ROSMAP | ENST00000337581 | 54187819 | 54187905 | hsa-miR-6072 | chr12:54187844-54187851 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
ROSMAP | ENST00000337581 | 54187819 | 54187905 | hsa-miR-3167 | chr12:54187853-54187860 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
ROSMAP | ENST00000337581 | 54187819 | 54187905 | hsa-miR-6891-3p | chr12:54187844-54187851 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
ROSMAP | ENST00000337581 | 54187819 | 54187905 | hsa-miR-5004-3p | chr12:54187855-54187862 | 8mer-1a | chr12:54187839-54187862 | 152.00 | -16.84 |
ROSMAP | ENST00000337581 | 54187819 | 54187905 | hsa-miR-6875-3p | chr12:54187849-54187856 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
ROSMAP | ENST00000337581 | 54187819 | 54187905 | hsa-miR-876-5p | chr12:54187853-54187860 | 8mer-1a | chr12:54187840-54187860 | 161.00 | -17.84 |
ROSMAP | ENST00000337581 | 54187819 | 54187905 | hsa-miR-27b-5p | chr12:54187891-54187898 | 8mer-1a | chr12:54187879-54187900 | 152.00 | -12.46 |
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SNVs in the skipped exons for SMUG1 |
- 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 SMUG1 |
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 SMUG1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
HCC | exon_skip_50735 | rs2279402 | chr12:54187280 | 3.777653e-10 | 1.217226e-07 |
HCC | exon_skip_50735 | rs2279399 | chr12:54187699 | 1.338784e-09 | 3.913619e-07 |
HCC | exon_skip_50735 | rs4759345 | chr12:54189420 | 1.328067e-07 | 2.599090e-05 |
HCC | exon_skip_50735 | rs7311216 | chr12:54140808 | 2.849043e-04 | 2.162452e-02 |
PCC | exon_skip_50735 | rs2279402 | chr12:54187280 | 2.137535e-08 | 1.160318e-05 |
PCC | exon_skip_50735 | rs4759345 | chr12:54189420 | 1.582042e-07 | 6.960984e-05 |
PCC | exon_skip_50735 | rs2279399 | chr12:54187699 | 1.689142e-07 | 7.394110e-05 |
DLPFC | exon_skip_50735 | rs2279402 | chr12:54187280 | 7.739831e-05 | 6.765487e-03 |
DLPFC | exon_skip_50735 | rs2279399 | chr12:54187699 | 7.778706e-04 | 4.562424e-02 |
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Correlation with RNA binding proteins (RBPs) for SMUG1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | NUP42 | exon_skip_13382 | 4.593980e-01 | 1.477450e-07 |
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RelatedDrugs for SMUG1 |
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 SMUG1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |