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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 INTS12 |
Gene summary |
Gene information | Gene symbol | INTS12 | Gene ID | 57117 |
Gene name | integrator complex subunit 12 | |
Synonyms | INT12|PHF22|SBBI22 | |
Cytomap | 4q24 | |
Type of gene | protein-coding | |
Description | integrator complex subunit 12PHD finger protein 22hypothetical nuclear factor SBBI22 | |
Modification date | 20200313 | |
UniProtAcc | A0A024RDK4, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
INTS12 | GO:0016180 | snRNA processing | 16239144 |
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Gene structures and expression levels for INTS12 |
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 |
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 INTS12 |
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_147617 | chr4 | 105699951:105700014:105707919:105708162:105708638:105708683 | 105707919:105708162 |
exon_skip_186198 | chr4 | 105686692:105686838:105691976:105692135:105693299:105693486 | 105691976:105692135 |
exon_skip_209823 | chr4 | 105683062:105683317:105686692:105686838:105691976:105692135 | 105686692:105686838 |
exon_skip_223964 | chr4 | 105693401:105693486:105695516:105695668:105699850:105700014 | 105695516:105695668 |
exon_skip_31547 | chr4 | 105699951:105700014:105703648:105703809:105708638:105708659 | 105703648:105703809 |
exon_skip_659 | chr4 | 105699951:105700014:105707919:105708162:105708638:105708659 | 105707919:105708162 |
exon_skip_8491 | chr4 | 105699951:105700014:105702886:105703023:105703648:105703809 | 105702886:105703023 |
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 INTS12 |
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 |
ENST00000340139 | 105703648 | 105703809 | 3UTR-3UTR |
ENST00000340139 | 105686692 | 105686838 | In-frame |
ENST00000394735 | 105686692 | 105686838 | In-frame |
ENST00000451321 | 105686692 | 105686838 | 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 |
ENST00000340139 | 105703648 | 105703809 | 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 |
ENST00000340139 | 105703648 | 105703809 | 3UTR-3UTR |
ENST00000340139 | 105691976 | 105692135 | Frame-shift |
ENST00000394735 | 105691976 | 105692135 | Frame-shift |
ENST00000451321 | 105691976 | 105692135 | Frame-shift |
ENST00000340139 | 105686692 | 105686838 | In-frame |
ENST00000394735 | 105686692 | 105686838 | In-frame |
ENST00000451321 | 105686692 | 105686838 | In-frame |
ENST00000340139 | 105695516 | 105695668 | In-frame |
ENST00000394735 | 105695516 | 105695668 | In-frame |
ENST00000451321 | 105695516 | 105695668 | In-frame |
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Infer the effects of exon skipping event on protein functional features for INTS12 |
p-ENSG00000138785_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 |
ENST00000340139 | 1727 | 462 | 105686692 | 105686838 | 873 | 1018 | 219 | 267 |
ENST00000394735 | 1944 | 462 | 105686692 | 105686838 | 1090 | 1235 | 219 | 267 |
ENST00000451321 | 1992 | 462 | 105686692 | 105686838 | 1138 | 1283 | 219 | 267 |
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 |
ENST00000340139 | 1727 | 462 | 105695516 | 105695668 | 372 | 523 | 52 | 102 |
ENST00000394735 | 1944 | 462 | 105695516 | 105695668 | 589 | 740 | 52 | 102 |
ENST00000451321 | 1992 | 462 | 105695516 | 105695668 | 637 | 788 | 52 | 102 |
ENST00000340139 | 1727 | 462 | 105686692 | 105686838 | 873 | 1018 | 219 | 267 |
ENST00000394735 | 1944 | 462 | 105686692 | 105686838 | 1090 | 1235 | 219 | 267 |
ENST00000451321 | 1992 | 462 | 105686692 | 105686838 | 1138 | 1283 | 219 | 267 |
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 |
Q96CB8 | 219 | 267 | 1 | 462 | Chain | ID=PRO_0000059312;Note=Integrator complex subunit 12 |
Q96CB8 | 219 | 267 | 1 | 462 | Chain | ID=PRO_0000059312;Note=Integrator complex subunit 12 |
Q96CB8 | 219 | 267 | 1 | 462 | Chain | ID=PRO_0000059312;Note=Integrator complex subunit 12 |
Q96CB8 | 219 | 267 | 254 | 254 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
Q96CB8 | 219 | 267 | 254 | 254 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
Q96CB8 | 219 | 267 | 254 | 254 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
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 |
Q96CB8 | 52 | 102 | 1 | 462 | Chain | ID=PRO_0000059312;Note=Integrator complex subunit 12 |
Q96CB8 | 52 | 102 | 1 | 462 | Chain | ID=PRO_0000059312;Note=Integrator complex subunit 12 |
Q96CB8 | 52 | 102 | 1 | 462 | Chain | ID=PRO_0000059312;Note=Integrator complex subunit 12 |
Q96CB8 | 52 | 102 | 68 | 68 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 |
Q96CB8 | 52 | 102 | 68 | 68 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 |
Q96CB8 | 52 | 102 | 68 | 68 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 |
Q96CB8 | 219 | 267 | 1 | 462 | Chain | ID=PRO_0000059312;Note=Integrator complex subunit 12 |
Q96CB8 | 219 | 267 | 1 | 462 | Chain | ID=PRO_0000059312;Note=Integrator complex subunit 12 |
Q96CB8 | 219 | 267 | 1 | 462 | Chain | ID=PRO_0000059312;Note=Integrator complex subunit 12 |
Q96CB8 | 219 | 267 | 254 | 254 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
Q96CB8 | 219 | 267 | 254 | 254 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
Q96CB8 | 219 | 267 | 254 | 254 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
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3'-UTR located exon skipping events that lost miRNA binding sites in INTS12 |
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 | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4480 | chr4:105703692-105703699 | 8mer-1a | chr4:105703691-105703707 | 154.00 | -12.27 |
Mayo | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4724-5p | chr4:105703682-105703689 | 8mer-1a | chr4:105703666-105703689 | 153.00 | -18.40 |
Mayo | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4725-3p | chr4:105703728-105703735 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
Mayo | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4271 | chr4:105703728-105703735 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
Mayo | ENST00000340139 | 105703648 | 105703809 | hsa-miR-219a-1-3p | chr4:105703720-105703727 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
Mayo | ENST00000340139 | 105703648 | 105703809 | hsa-miR-6780b-5p | chr4:105703728-105703735 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
Mayo | ENST00000340139 | 105703648 | 105703809 | hsa-miR-766-5p | chr4:105703759-105703766 | 8mer-1a | chr4:105703745-105703766 | 164.00 | -23.49 |
MSBB | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4480 | chr4:105703692-105703699 | 8mer-1a | chr4:105703691-105703707 | 154.00 | -12.27 |
MSBB | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4724-5p | chr4:105703682-105703689 | 8mer-1a | chr4:105703666-105703689 | 153.00 | -18.40 |
MSBB | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4725-3p | chr4:105703728-105703735 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
MSBB | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4271 | chr4:105703728-105703735 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
MSBB | ENST00000340139 | 105703648 | 105703809 | hsa-miR-219a-1-3p | chr4:105703720-105703727 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
MSBB | ENST00000340139 | 105703648 | 105703809 | hsa-miR-6780b-5p | chr4:105703728-105703735 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
MSBB | ENST00000340139 | 105703648 | 105703809 | hsa-miR-766-5p | chr4:105703759-105703766 | 8mer-1a | chr4:105703745-105703766 | 164.00 | -23.49 |
ROSMAP | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4480 | chr4:105703692-105703699 | 8mer-1a | chr4:105703691-105703707 | 154.00 | -12.27 |
ROSMAP | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4724-5p | chr4:105703682-105703689 | 8mer-1a | chr4:105703666-105703689 | 153.00 | -18.40 |
ROSMAP | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4725-3p | chr4:105703728-105703735 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
ROSMAP | ENST00000340139 | 105703648 | 105703809 | hsa-miR-4271 | chr4:105703728-105703735 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
ROSMAP | ENST00000340139 | 105703648 | 105703809 | hsa-miR-219a-1-3p | chr4:105703720-105703727 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
ROSMAP | ENST00000340139 | 105703648 | 105703809 | hsa-miR-6780b-5p | chr4:105703728-105703735 | 8mer-1a | chr4:105703710-105703735 | 163.00 | -31.39 |
ROSMAP | ENST00000340139 | 105703648 | 105703809 | hsa-miR-766-5p | chr4:105703759-105703766 | 8mer-1a | chr4:105703745-105703766 | 164.00 | -23.49 |
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SNVs in the skipped exons for INTS12 |
- 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 INTS12 |
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 INTS12 |
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 INTS12 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for INTS12 |
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 INTS12 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |