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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 IMMP1L |
Gene summary |
Gene information | Gene symbol | IMMP1L | Gene ID | 196294 |
Gene name | inner mitochondrial membrane peptidase subunit 1 | |
Synonyms | IMMP1|IMP1|IMP1-LIKE | |
Cytomap | 11p13 | |
Type of gene | protein-coding | |
Description | mitochondrial inner membrane protease subunit 1IMP1 inner mitochondrial membrane peptidase-like | |
Modification date | 20200313 | |
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 |
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Gene structures and expression levels for IMMP1L |
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 IMMP1L |
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_102094 | chr11 | 31469758:31469797:31473724:31473786:31509519:31509603 | 31473724:31473786 |
exon_skip_10473 | chr11 | 31463172:31463305:31469758:31469797:31509519:31509563 | 31469758:31469797 |
exon_skip_108636 | chr11 | 31469758:31469797:31473724:31473786:31509519:31509563 | 31473724:31473786 |
exon_skip_123980 | chr11 | 31460626:31460714:31463172:31463305:31473724:31473786 | 31463172:31463305 |
exon_skip_133718 | chr11 | 31456313:31456386:31460626:31460714:31463172:31463305 | 31460626:31460714 |
exon_skip_216442 | chr11 | 31433460:31433570:31447983:31449091:31456260:31456338 | 31447983:31449091 |
exon_skip_242919 | chr11 | 31463172:31463305:31473724:31473786:31509519:31509563 | 31473724:31473786 |
exon_skip_245571 | chr11 | 31433460:31433570:31477501:31477759:31509519:31509563 | 31477501:31477759 |
exon_skip_245952 | chr11 | 31463172:31463305:31469740:31469797:31473724:31473786 | 31469740:31469797 |
exon_skip_26537 | chr11 | 31463172:31463305:31469758:31469797:31473724:31473786 | 31469758:31469797 |
exon_skip_290975 | chr11 | 31433460:31433570:31456260:31456386:31460626:31460714 | 31456260:31456386 |
exon_skip_292062 | chr11 | 31456313:31456386:31460626:31460714:31463172:31463291 | 31460626:31460714 |
exon_skip_36224 | chr11 | 31433460:31433570:31463172:31463305:31509519:31509563 | 31463172:31463305 |
exon_skip_86186 | chr11 | 31460626:31460714:31463172:31463305:31509519:31509563 | 31463172:31463305 |
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 IMMP1L |
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 |
ENST00000278200 | 31463172 | 31463305 | 3UTR-3CDS |
ENST00000532287 | 31463172 | 31463305 | 3UTR-3CDS |
ENST00000278200 | 31473724 | 31473786 | 3UTR-3UTR |
ENST00000278200 | 31456260 | 31456386 | Frame-shift |
ENST00000532287 | 31456260 | 31456386 | Frame-shift |
ENST00000278200 | 31460626 | 31460714 | Frame-shift |
ENST00000532287 | 31460626 | 31460714 | 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 |
ENST00000278200 | 31473724 | 31473786 | 3UTR-3UTR |
ENST00000278200 | 31456260 | 31456386 | Frame-shift |
ENST00000532287 | 31456260 | 31456386 | Frame-shift |
ENST00000278200 | 31460626 | 31460714 | Frame-shift |
ENST00000532287 | 31460626 | 31460714 | 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 |
ENST00000532287 | 31463172 | 31463305 | 3UTR-3CDS |
ENST00000278200 | 31473724 | 31473786 | 3UTR-3UTR |
ENST00000278200 | 31456260 | 31456386 | Frame-shift |
ENST00000532287 | 31456260 | 31456386 | Frame-shift |
ENST00000278200 | 31460626 | 31460714 | Frame-shift |
ENST00000532287 | 31460626 | 31460714 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for IMMP1L |
p-ENSG00000148950_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 IMMP1L |
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 | ENST00000278200 | 31473724 | 31473786 | hsa-miR-3164 | chr11:31473743-31473750 | 8mer-1a | chr11:31473733-31473755 | 161.00 | -17.47 |
Mayo | ENST00000278200 | 31473724 | 31473786 | hsa-miR-6820-3p | chr11:31473743-31473750 | 8mer-1a | chr11:31473733-31473755 | 161.00 | -17.47 |
MSBB | ENST00000278200 | 31473724 | 31473786 | hsa-miR-3164 | chr11:31473743-31473750 | 8mer-1a | chr11:31473733-31473755 | 161.00 | -17.47 |
MSBB | ENST00000278200 | 31473724 | 31473786 | hsa-miR-6820-3p | chr11:31473743-31473750 | 8mer-1a | chr11:31473733-31473755 | 161.00 | -17.47 |
ROSMAP | ENST00000278200 | 31473724 | 31473786 | hsa-miR-3164 | chr11:31473743-31473750 | 8mer-1a | chr11:31473733-31473755 | 161.00 | -17.47 |
ROSMAP | ENST00000278200 | 31473724 | 31473786 | hsa-miR-6820-3p | chr11:31473743-31473750 | 8mer-1a | chr11:31473733-31473755 | 161.00 | -17.47 |
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SNVs in the skipped exons for IMMP1L |
- 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 IMMP1L |
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 IMMP1L |
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 IMMP1L |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TRA2A | exon_skip_86552 | 4.164073e-01 | 4.780779e-08 |
IFG | IGF2BP2 | exon_skip_232162 | 4.179055e-01 | 4.214448e-02 |
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RelatedDrugs for IMMP1L |
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 IMMP1L |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |