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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for SCMH1 |
 Gene summary |
| Gene information | Gene symbol | SCMH1 | Gene ID | 22955 |
| Gene name | Scm polycomb group protein homolog 1 | |
| Synonyms | Scml3 | |
| Cytomap | 1p34.2 | |
| Type of gene | protein-coding | |
| Description | polycomb protein SCMH1sex comb on midleg homolog 1 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A087WW29, Q96GD3, | |
| 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 SCMH1 |
| 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. |
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ENSG00000010803
| 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 |
| STG | UP | ENST00000456518.3 | SCMH1-211:protein_coding:SCMH1 | 6.814266e+00 | 3.957939e+00 | 1.497048e-03 | 4.722468e-02 |
| CB | DOWN | ENST00000361191.9 | SCMH1-203:protein_coding:SCMH1 | 1.369830e+02 | -1.488128e+00 | 4.771672e-13 | 8.027340e-11 |
| CB | DOWN | ENST00000472037.5 | SCMH1-213:protein_coding:SCMH1 | 1.058342e+01 | -1.753441e+00 | 3.155680e-06 | 3.988095e-05 |
| CB | UP | ENST00000456518.3 | SCMH1-211:protein_coding:SCMH1 | 5.511026e+00 | 1.137109e+00 | 2.105903e-04 | 1.390591e-03 |
| CB | DOWN | ENST00000397174.6 | SCMH1-209:protein_coding:SCMH1 | 1.244262e+02 | -9.925727e-01 | 2.898943e-03 | 1.254938e-02 |
| TC | DOWN | ENST00000472037.5 | SCMH1-213:protein_coding:SCMH1 | 1.186592e+01 | -1.865556e+00 | 1.578095e-06 | 5.825992e-05 |
| 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 SCMH1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_106101 | chr1 | 41142878:41143112:41159725:41159933:41160875:41160895 | 41159725:41159933 |
| exon_skip_109295 | chr1 | 41161364:41161432:41186121:41186250:41242059:41242110 | 41186121:41186250 |
| exon_skip_113430 | chr1 | 41116922:41117010:41142878:41143112:41159725:41159871 | 41142878:41143112 |
| exon_skip_140118 | chr1 | 41151614:41151684:41152599:41152741:41159725:41159871 | 41152599:41152741 |
| exon_skip_154217 | chr1 | 41151614:41151684:41159725:41159933:41160875:41160895 | 41159725:41159933 |
| exon_skip_154532 | chr1 | 41113283:41113526:41116922:41117010:41142878:41143112 | 41116922:41117010 |
| exon_skip_157979 | chr1 | 41151614:41151684:41159725:41159933:41160875:41160898 | 41159725:41159933 |
| exon_skip_166888 | chr1 | 41152599:41152741:41159725:41159933:41160875:41160895 | 41159725:41159933 |
| exon_skip_172858 | chr1 | 41070595:41070721:41075219:41075451:41142878:41143112 | 41075219:41075451 |
| exon_skip_174079 | chr1 | 41070595:41070721:41075219:41075451:41113283:41113526 | 41075219:41075451 |
| exon_skip_183443 | chr1 | 41028192:41028319:41028584:41028726:41037362:41037452 | 41028584:41028726 |
| exon_skip_200354 | chr1 | 41028642:41028726:41033983:41034048:41037362:41037452 | 41033983:41034048 |
| exon_skip_21381 | chr1 | 41142878:41143112:41151614:41151684:41160875:41160898 | 41151614:41151684 |
| exon_skip_240813 | chr1 | 41116922:41117010:41142878:41143112:41160875:41160895 | 41142878:41143112 |
| exon_skip_256515 | chr1 | 41142878:41143112:41159725:41159933:41160875:41160898 | 41159725:41159933 |
| exon_skip_267545 | chr1 | 41151614:41151684:41152599:41152741:41159725:41159777 | 41152599:41152741 |
| exon_skip_44550 | chr1 | 41142878:41143112:41151614:41151684:41160875:41160895 | 41151614:41151684 |
| exon_skip_50077 | chr1 | 41152599:41152741:41159725:41159933:41160875:41160898 | 41159725:41159933 |
| exon_skip_54243 | chr1 | 41142878:41143112:41151614:41151684:41159725:41159871 | 41151614:41151684 |
| exon_skip_56187 | chr1 | 41075219:41075451:41113283:41113526:41116922:41117010 | 41113283:41113526 |
| exon_skip_77253 | chr1 | 41142878:41143112:41151614:41151684:41159725:41159777 | 41151614:41151684 |
| exon_skip_87025 | chr1 | 41037362:41037541:41041311:41041565:41046418:41046598 | 41041311:41041565 |
| exon_skip_87412 | chr1 | 41048690:41048890:41070595:41070721:41075219:41075451 | 41070595:41070721 |
| exon_skip_89432 | chr1 | 41116922:41117010:41142878:41143112:41160875:41160898 | 41142878:41143112 |
| 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 SCMH1 |
| 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 |
| ENST00000326197 | 41152599 | 41152741 | 3UTR-3CDS |
| ENST00000326197 | 41159725 | 41159933 | 3UTR-3UTR |
| ENST00000326197 | 41075219 | 41075451 | Frame-shift |
| ENST00000397174 | 41075219 | 41075451 | Frame-shift |
| ENST00000326197 | 41113283 | 41113526 | Frame-shift |
| ENST00000397174 | 41113283 | 41113526 | Frame-shift |
| ENST00000326197 | 41116922 | 41117010 | Frame-shift |
| ENST00000397174 | 41116922 | 41117010 | Frame-shift |
| ENST00000326197 | 41033983 | 41034048 | In-frame |
| ENST00000397174 | 41033983 | 41034048 | 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 |
| ENST00000326197 | 41152599 | 41152741 | 3UTR-3CDS |
| ENST00000326197 | 41159725 | 41159933 | 3UTR-3UTR |
| ENST00000326197 | 41075219 | 41075451 | Frame-shift |
| ENST00000397174 | 41075219 | 41075451 | Frame-shift |
| ENST00000326197 | 41033983 | 41034048 | In-frame |
| ENST00000397174 | 41033983 | 41034048 | 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 |
| ENST00000326197 | 41152599 | 41152741 | 3UTR-3CDS |
| ENST00000326197 | 41159725 | 41159933 | 3UTR-3UTR |
| ENST00000326197 | 41070595 | 41070721 | Frame-shift |
| ENST00000397174 | 41070595 | 41070721 | Frame-shift |
| ENST00000326197 | 41075219 | 41075451 | Frame-shift |
| ENST00000397174 | 41075219 | 41075451 | Frame-shift |
| ENST00000326197 | 41113283 | 41113526 | Frame-shift |
| ENST00000397174 | 41113283 | 41113526 | Frame-shift |
| ENST00000326197 | 41116922 | 41117010 | Frame-shift |
| ENST00000397174 | 41116922 | 41117010 | Frame-shift |
| ENST00000326197 | 41033983 | 41034048 | In-frame |
| ENST00000397174 | 41033983 | 41034048 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SCMH1 |
p-ENSG00000010803_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 |
| ENST00000326197 | 3292 | 660 | 41033983 | 41034048 | 1949 | 2013 | 549 | 571 |
| ENST00000397174 | 2994 | 660 | 41033983 | 41034048 | 1649 | 1713 | 549 | 571 |
| 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 |
| ENST00000326197 | 3292 | 660 | 41033983 | 41034048 | 1949 | 2013 | 549 | 571 |
| ENST00000397174 | 2994 | 660 | 41033983 | 41034048 | 1649 | 1713 | 549 | 571 |
| 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 |
| ENST00000326197 | 3292 | 660 | 41033983 | 41034048 | 1949 | 2013 | 549 | 571 |
| ENST00000397174 | 2994 | 660 | 41033983 | 41034048 | 1649 | 1713 | 549 | 571 |
| 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 |
| Q96GD3 | 549 | 571 | 550 | 571 | Alternative sequence | ID=VSP_051679;Note=In isoform 2%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10524249,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10524249,PMID:14702 |
| Q96GD3 | 549 | 571 | 550 | 571 | Alternative sequence | ID=VSP_051679;Note=In isoform 2%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10524249,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10524249,PMID:14702 |
| Q96GD3 | 549 | 571 | 1 | 660 | Chain | ID=PRO_0000114334;Note=Polycomb protein SCMH1 |
| Q96GD3 | 549 | 571 | 1 | 660 | Chain | ID=PRO_0000114334;Note=Polycomb protein SCMH1 |
| 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 |
| Q96GD3 | 549 | 571 | 550 | 571 | Alternative sequence | ID=VSP_051679;Note=In isoform 2%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10524249,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10524249,PMID:14702 |
| Q96GD3 | 549 | 571 | 550 | 571 | Alternative sequence | ID=VSP_051679;Note=In isoform 2%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10524249,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10524249,PMID:14702 |
| Q96GD3 | 549 | 571 | 1 | 660 | Chain | ID=PRO_0000114334;Note=Polycomb protein SCMH1 |
| Q96GD3 | 549 | 571 | 1 | 660 | Chain | ID=PRO_0000114334;Note=Polycomb protein SCMH1 |
| 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 |
| Q96GD3 | 549 | 571 | 550 | 571 | Alternative sequence | ID=VSP_051679;Note=In isoform 2%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10524249,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10524249,PMID:14702 |
| Q96GD3 | 549 | 571 | 550 | 571 | Alternative sequence | ID=VSP_051679;Note=In isoform 2%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10524249,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10524249,PMID:14702 |
| Q96GD3 | 549 | 571 | 1 | 660 | Chain | ID=PRO_0000114334;Note=Polycomb protein SCMH1 |
| Q96GD3 | 549 | 571 | 1 | 660 | Chain | ID=PRO_0000114334;Note=Polycomb protein SCMH1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SCMH1 |
| 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 | ENST00000326197 | 41159725 | 41159933 | hsa-miR-610 | chr1:41159907-41159914 | 8mer-1a | chr1:41159903-41159925 | 166.00 | -19.86 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-3160-3p | chr1:41159752-41159759 | 8mer-1a | chr1:41159737-41159759 | 149.00 | -12.85 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548x-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-6719-3p | chr1:41159787-41159794 | 8mer-1a | chr1:41159772-41159794 | 145.00 | -14.33 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-372-5p | chr1:41159875-41159882 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548ae-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-499b-5p | chr1:41159814-41159821 | 8mer-1a | chr1:41159800-41159821 | 150.00 | -14.84 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-3616-5p | chr1:41159776-41159783 | 8mer-1a | chr1:41159763-41159783 | 154.00 | -15.17 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548j-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-4764-5p | chr1:41159899-41159906 | 8mer-1a | chr1:41159886-41159906 | 157.00 | -21.17 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-4762-5p | chr1:41159795-41159802 | 8mer-1a | chr1:41159791-41159812 | 156.00 | -14.95 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548aq-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-570-3p | chr1:41159893-41159900 | 8mer-1a | chr1:41159886-41159906 | 157.00 | -21.17 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-573 | chr1:41159776-41159783 | 8mer-1a | chr1:41159763-41159783 | 154.00 | -15.17 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548ah-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-1305 | chr1:41159865-41159872 | 8mer-1a | chr1:41159855-41159875 | 155.00 | -15.79 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-5003-3p | chr1:41159868-41159875 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548aj-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548am-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| Mayo | ENST00000326197 | 41159725 | 41159933 | hsa-miR-6894-5p | chr1:41159855-41159862 | 8mer-1a | chr1:41159855-41159875 | 155.00 | -15.79 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-610 | chr1:41159907-41159914 | 8mer-1a | chr1:41159903-41159925 | 166.00 | -19.86 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-3160-3p | chr1:41159752-41159759 | 8mer-1a | chr1:41159737-41159759 | 149.00 | -12.85 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548x-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-6719-3p | chr1:41159787-41159794 | 8mer-1a | chr1:41159772-41159794 | 145.00 | -14.33 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-372-5p | chr1:41159875-41159882 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548ae-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-499b-5p | chr1:41159814-41159821 | 8mer-1a | chr1:41159800-41159821 | 150.00 | -14.84 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-3616-5p | chr1:41159776-41159783 | 8mer-1a | chr1:41159763-41159783 | 154.00 | -15.17 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548j-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-4764-5p | chr1:41159899-41159906 | 8mer-1a | chr1:41159886-41159906 | 157.00 | -21.17 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-4762-5p | chr1:41159795-41159802 | 8mer-1a | chr1:41159791-41159812 | 156.00 | -14.95 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548aq-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-570-3p | chr1:41159893-41159900 | 8mer-1a | chr1:41159886-41159906 | 157.00 | -21.17 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-573 | chr1:41159776-41159783 | 8mer-1a | chr1:41159763-41159783 | 154.00 | -15.17 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548ah-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-1305 | chr1:41159865-41159872 | 8mer-1a | chr1:41159855-41159875 | 155.00 | -15.79 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-5003-3p | chr1:41159868-41159875 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548aj-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548am-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| MSBB | ENST00000326197 | 41159725 | 41159933 | hsa-miR-6894-5p | chr1:41159855-41159862 | 8mer-1a | chr1:41159855-41159875 | 155.00 | -15.79 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-610 | chr1:41159907-41159914 | 8mer-1a | chr1:41159903-41159925 | 166.00 | -19.86 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-3160-3p | chr1:41159752-41159759 | 8mer-1a | chr1:41159737-41159759 | 149.00 | -12.85 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548x-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-6719-3p | chr1:41159787-41159794 | 8mer-1a | chr1:41159772-41159794 | 145.00 | -14.33 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-372-5p | chr1:41159875-41159882 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548ae-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-499b-5p | chr1:41159814-41159821 | 8mer-1a | chr1:41159800-41159821 | 150.00 | -14.84 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-3616-5p | chr1:41159776-41159783 | 8mer-1a | chr1:41159763-41159783 | 154.00 | -15.17 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548j-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-4764-5p | chr1:41159899-41159906 | 8mer-1a | chr1:41159886-41159906 | 157.00 | -21.17 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-4762-5p | chr1:41159795-41159802 | 8mer-1a | chr1:41159791-41159812 | 156.00 | -14.95 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548aq-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-570-3p | chr1:41159893-41159900 | 8mer-1a | chr1:41159886-41159906 | 157.00 | -21.17 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-573 | chr1:41159776-41159783 | 8mer-1a | chr1:41159763-41159783 | 154.00 | -15.17 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548ah-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-1305 | chr1:41159865-41159872 | 8mer-1a | chr1:41159855-41159875 | 155.00 | -15.79 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-5003-3p | chr1:41159868-41159875 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548aj-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-548am-3p | chr1:41159882-41159889 | 8mer-1a | chr1:41159867-41159889 | 175.00 | -13.28 |
| ROSMAP | ENST00000326197 | 41159725 | 41159933 | hsa-miR-6894-5p | chr1:41159855-41159862 | 8mer-1a | chr1:41159855-41159875 | 155.00 | -15.79 |
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SNVs in the skipped exons for SCMH1 |
| - 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 SCMH1 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_146376 | -4.126385e-01 | 2.909334e-02 | chr1 | - | 41070595 | 41070721 | 41071831 | 41071973 | 41075219 | 41075451 |
| CDR | MSBB | IFG | exon_skip_146376 | -5.339267e-01 | 3.429412e-03 | chr1 | - | 41070595 | 41070721 | 41071831 | 41071973 | 41075219 | 41075451 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SCMH1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| PCC | exon_skip_174079 | rs213744 | chr1:41154222 | 2.798162e-05 | 6.120463e-03 |
| PCC | exon_skip_174079 | rs17357905 | chr1:41018645 | 3.676523e-05 | 7.687153e-03 |
| PCC | exon_skip_174079 | rs10889792 | chr1:41025213 | 7.070037e-05 | 1.314276e-02 |
| PCC | exon_skip_174079 | rs213751 | chr1:41144214 | 8.532362e-05 | 1.515759e-02 |
| PCC | exon_skip_174079 | rs6686842 | chr1:41065199 | 2.103330e-04 | 3.091524e-02 |
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Correlation with RNA binding proteins (RBPs) for SCMH1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM3 | exon_skip_200354 | 5.240584e-01 | 1.350729e-12 |
| CB | TRA2A | exon_skip_200354 | -4.827602e-01 | 1.161126e-10 |
| CB | NUP42 | exon_skip_200354 | 5.298045e-01 | 6.921871e-13 |
| CB | RBM6 | exon_skip_174079 | -4.449531e-01 | 4.700770e-09 |
| HCC | RBM3 | exon_skip_200354 | 4.139471e-01 | 1.100151e-12 |
| HCC | FUBP1 | exon_skip_256515 | 4.318196e-01 | 1.128267e-10 |
| PCC | RBM3 | exon_skip_200354 | 4.811028e-01 | 1.663539e-13 |
| PCC | RBFOX2 | exon_skip_140118 | -4.560334e-01 | 6.107600e-11 |
| TC | RBM3 | exon_skip_200354 | 4.910515e-01 | 4.323018e-11 |
| TC | KHDRBS2 | exon_skip_106101 | -4.656134e-01 | 1.224369e-07 |
| TC | RALYL | exon_skip_106101 | -4.061459e-01 | 5.535762e-06 |
| TC | RBFOX2 | exon_skip_140118 | -5.916801e-01 | 3.319902e-14 |
| TC | RBM24 | exon_skip_140118 | -5.107300e-01 | 2.118520e-10 |
| TC | HNRNPA0 | exon_skip_140118 | -5.008854e-01 | 5.290222e-10 |
| TC | RALYL | exon_skip_140118 | -5.840309e-01 | 8.441705e-14 |
| TC | NOVA1 | exon_skip_140118 | -5.185646e-01 | 1.001292e-10 |
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RelatedDrugs for SCMH1 |
| 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 SCMH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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