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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 RUNX1T1 |
 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| RUNX1T1 | GO:0045892 | negative regulation of transcription, DNA-templated | 23251453 |
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Gene structures and expression levels for RUNX1T1 |
| 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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ENSG00000079102
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000396218.5 | RUNX1T1-203:protein_coding:RUNX1T1 | 2.168991e+01 | 1.518660e+00 | 1.169154e-04 | 1.225503e-02 |
| CB | UP | ENST00000520724.5 | RUNX1T1-227:protein_coding:RUNX1T1 | 1.841980e+01 | 9.959814e-01 | 3.493695e-04 | 2.129400e-03 |
| CB | UP | ENST00000521054.5 | RUNX1T1-230:protein_coding:RUNX1T1 | 1.698565e+00 | 1.171701e+00 | 7.471664e-03 | 2.737821e-02 |
| CB | UP | ENST00000520556.5 | RUNX1T1-225:protein_coding:RUNX1T1 | 2.992190e+00 | 8.701465e-01 | 7.919866e-03 | 2.871959e-02 |
| CB | UP | ENST00000520978.5 | RUNX1T1-229:nonsense_mediated_decay:RUNX1T1 | 3.170493e+00 | 8.095517e-01 | 1.159545e-02 | 3.923405e-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 RUNX1T1 |
| 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_103261 | chr8 | 92017226:92017431:92075965:92076137:92095028:92095235 | 92075965:92076137 |
| exon_skip_135499 | chr8 | 92017400:92017431:92062546:92062709:92095028:92095171 | 92062546:92062709 |
| exon_skip_161310 | chr8 | 92017307:92017363:92062546:92062709:92075965:92076132 | 92062546:92062709 |
| exon_skip_164745 | chr8 | 92017307:92017363:92062546:92062627:92075965:92076132 | 92062546:92062627 |
| exon_skip_170315 | chr8 | 92017400:92017431:92075965:92076137:92095028:92095171 | 92075965:92076137 |
| exon_skip_177447 | chr8 | 92017307:92017363:92075965:92076137:92095028:92095171 | 92075965:92076137 |
| exon_skip_182232 | chr8 | 92017400:92017431:92062546:92062709:92075965:92076132 | 92062546:92062709 |
| exon_skip_189602 | chr8 | 92075965:92076137:92081234:92081293:92095028:92095171 | 92081234:92081293 |
| exon_skip_202657 | chr8 | 92062624:92062709:92075965:92076137:92095347:92095416 | 92075965:92076137 |
| exon_skip_204618 | chr8 | 92017307:92017363:92075965:92076132:92095347:92095478 | 92075965:92076132 |
| exon_skip_219992 | chr8 | 92017307:92017363:92075965:92076137:92095347:92095416 | 92075965:92076137 |
| exon_skip_223923 | chr8 | 92017307:92017363:92062546:92062709:92095028:92095235 | 92062546:92062709 |
| exon_skip_22409 | chr8 | 92062624:92062709:92075965:92076137:92102857:92102907 | 92075965:92076137 |
| exon_skip_226171 | chr8 | 92017400:92017431:92075965:92076137:92095347:92095416 | 92075965:92076137 |
| exon_skip_234260 | chr8 | 92075965:92076137:92081234:92081293:92102857:92102907 | 92081234:92081293 |
| exon_skip_235311 | chr8 | 92062624:92062709:92075965:92076137:92095028:92095171 | 92075965:92076137 |
| exon_skip_239623 | chr8 | 92017307:92017363:92095028:92095171:92095347:92095416 | 92095028:92095171 |
| exon_skip_24028 | chr8 | 92017307:92017363:92062546:92062709:92095028:92095171 | 92062546:92062709 |
| exon_skip_249338 | chr8 | 92017346:92017431:92062546:92062709:92075965:92076132 | 92062546:92062709 |
| exon_skip_267722 | chr8 | 92017226:92017363:92075965:92076137:92095028:92095171 | 92075965:92076137 |
| exon_skip_280642 | chr8 | 92062546:92062709:92075965:92076137:92095028:92095235 | 92075965:92076137 |
| exon_skip_281307 | chr8 | 91991671:91991889:91994487:91994623:92005116:92005160 | 91994487:91994623 |
| exon_skip_287679 | chr8 | 91991639:91991889:91994487:91994623:92005116:92005174 | 91994487:91994623 |
| exon_skip_291750 | chr8 | 92081234:92081293:92095028:92095171:92095347:92095416 | 92095028:92095171 |
| exon_skip_294481 | chr8 | 91991671:91991889:91994487:91994623:92005116:92005174 | 91994487:91994623 |
| exon_skip_42007 | chr8 | 92075965:92076137:92081234:92081293:92095347:92095416 | 92081234:92081293 |
| exon_skip_5108 | chr8 | 92017307:92017363:92062546:92062622:92075965:92076137 | 92062546:92062622 |
| exon_skip_55434 | chr8 | 91975905:91975973:91979777:91979931:91986124:91986325 | 91979777:91979931 |
| exon_skip_57744 | chr8 | 92017307:92017363:92075965:92076137:92102857:92102907 | 92075965:92076137 |
| exon_skip_76587 | chr8 | 92017307:92017363:92062546:92062627:92075965:92076137 | 92062546:92062627 |
| exon_skip_87600 | chr8 | 91991639:91991889:92003302:92003380:92005116:92005160 | 92003302:92003380 |
| exon_skip_88552 | chr8 | 92075965:92076137:92095028:92095171:92095347:92095416 | 92095028:92095171 |
| 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 RUNX1T1 |
| 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 |
| ENST00000523629 | 92075965 | 92076137 | 3UTR-3CDS |
| ENST00000614812 | 92075965 | 92076137 | 3UTR-3CDS |
| ENST00000617740 | 92075965 | 92076137 | 3UTR-3CDS |
| ENST00000613302 | 92081234 | 92081293 | 3UTR-3UTR |
| ENST00000613302 | 92095028 | 92095171 | 3UTR-3UTR |
| ENST00000617740 | 92095028 | 92095171 | 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 |
| ENST00000523629 | 92075965 | 92076137 | 3UTR-3CDS |
| ENST00000617740 | 92075965 | 92076137 | 3UTR-3CDS |
| ENST00000613302 | 92081234 | 92081293 | 3UTR-3UTR |
| ENST00000617740 | 92095028 | 92095171 | 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 |
| ENST00000523629 | 92075965 | 92076137 | 3UTR-3CDS |
| ENST00000614812 | 92075965 | 92076137 | 3UTR-3CDS |
| ENST00000617740 | 92075965 | 92076137 | 3UTR-3CDS |
| ENST00000613302 | 92081234 | 92081293 | 3UTR-3UTR |
| ENST00000613302 | 92095028 | 92095171 | 3UTR-3UTR |
| ENST00000617740 | 92095028 | 92095171 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for RUNX1T1 |
p-ENSG00000079102_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 RUNX1T1 |
| 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 | ENST00000617740 | 92095028 | 92095171 | hsa-miR-6742-5p | chr8:92095101-92095108 | 8mer-1a | chr8:92095088-92095109 | 163.00 | -26.52 |
| Mayo | ENST00000617740 | 92095028 | 92095171 | hsa-miR-2116-3p | chr8:92095059-92095066 | 8mer-1a | chr8:92095046-92095067 | 153.00 | -21.35 |
| Mayo | ENST00000613302 | 92081234 | 92081293 | hsa-miR-4511 | chr8:92081276-92081283 | 8mer-1a | chr8:92081266-92081287 | 170.00 | -16.50 |
| Mayo | ENST00000617740 | 92095028 | 92095171 | hsa-miR-10401-5p | chr8:92095103-92095110 | 8mer-1a | chr8:92095091-92095110 | 150.00 | -21.77 |
| Mayo | ENST00000617740 | 92095028 | 92095171 | hsa-miR-25-5p | chr8:92095163-92095170 | 8mer-1a | chr8:92095148-92095171 | 154.00 | -21.04 |
| Mayo | ENST00000617740 | 92095028 | 92095171 | hsa-miR-147a | chr8:92095104-92095111 | 8mer-1a | chr8:92095101-92095123 | 143.00 | -12.58 |
| MSBB | ENST00000617740 | 92095028 | 92095171 | hsa-miR-6742-5p | chr8:92095101-92095108 | 8mer-1a | chr8:92095088-92095109 | 163.00 | -26.52 |
| MSBB | ENST00000617740 | 92095028 | 92095171 | hsa-miR-2116-3p | chr8:92095059-92095066 | 8mer-1a | chr8:92095046-92095067 | 153.00 | -21.35 |
| MSBB | ENST00000613302 | 92081234 | 92081293 | hsa-miR-4511 | chr8:92081276-92081283 | 8mer-1a | chr8:92081266-92081287 | 170.00 | -16.50 |
| MSBB | ENST00000617740 | 92095028 | 92095171 | hsa-miR-10401-5p | chr8:92095103-92095110 | 8mer-1a | chr8:92095091-92095110 | 150.00 | -21.77 |
| MSBB | ENST00000617740 | 92095028 | 92095171 | hsa-miR-25-5p | chr8:92095163-92095170 | 8mer-1a | chr8:92095148-92095171 | 154.00 | -21.04 |
| MSBB | ENST00000617740 | 92095028 | 92095171 | hsa-miR-147a | chr8:92095104-92095111 | 8mer-1a | chr8:92095101-92095123 | 143.00 | -12.58 |
| ROSMAP | ENST00000617740 | 92095028 | 92095171 | hsa-miR-6742-5p | chr8:92095101-92095108 | 8mer-1a | chr8:92095088-92095109 | 163.00 | -26.52 |
| ROSMAP | ENST00000617740 | 92095028 | 92095171 | hsa-miR-2116-3p | chr8:92095059-92095066 | 8mer-1a | chr8:92095046-92095067 | 153.00 | -21.35 |
| ROSMAP | ENST00000613302 | 92081234 | 92081293 | hsa-miR-4511 | chr8:92081276-92081283 | 8mer-1a | chr8:92081266-92081287 | 170.00 | -16.50 |
| ROSMAP | ENST00000617740 | 92095028 | 92095171 | hsa-miR-10401-5p | chr8:92095103-92095110 | 8mer-1a | chr8:92095091-92095110 | 150.00 | -21.77 |
| ROSMAP | ENST00000617740 | 92095028 | 92095171 | hsa-miR-25-5p | chr8:92095163-92095170 | 8mer-1a | chr8:92095148-92095171 | 154.00 | -21.04 |
| ROSMAP | ENST00000617740 | 92095028 | 92095171 | hsa-miR-147a | chr8:92095104-92095111 | 8mer-1a | chr8:92095101-92095123 | 143.00 | -12.58 |
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SNVs in the skipped exons for RUNX1T1 |
| - 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 RUNX1T1 |
| 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 RUNX1T1 |
| 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 RUNX1T1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_177447 | -4.236771e-01 | 9.435980e-07 |
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RelatedDrugs for RUNX1T1 |
| 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 RUNX1T1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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