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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 IMMT |
Gene summary |
Gene information | Gene symbol | IMMT | Gene ID | 10989 |
Gene name | inner membrane mitochondrial protein | |
Synonyms | HMP|MICOS60|MINOS2|Mic60|P87|P87/89|P89|PIG4|PIG52 | |
Cytomap | 2p11.2|2 | |
Type of gene | protein-coding | |
Description | MICOS complex subunit MIC60cell proliferation-inducing gene 4/52 proteincell proliferation-inducing protein 52heart muscle proteinmitochondrial contact site and cristae organizing system subunit 60mitochondrial inner membrane organizing system 2mito | |
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 |
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Gene structures and expression levels for IMMT |
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 | ENST00000620815.4 | IMMT-212:protein_coding:IMMT | 3.686615e+01 | -2.293641e+00 | 3.413473e-03 | 1.435367e-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 IMMT |
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_105055 | chr2 | 86171208:86171312:86173650:86173761:86179433:86179622 | 86173650:86173761 |
exon_skip_109951 | chr2 | 86161976:86162079:86166508:86166644:86170749:86170801 | 86166508:86166644 |
exon_skip_136110 | chr2 | 86166508:86166644:86170749:86170841:86171208:86171309 | 86170749:86170841 |
exon_skip_140022 | chr2 | 86146068:86146197:86147702:86147833:86151297:86151520 | 86147702:86147833 |
exon_skip_170550 | chr2 | 86166508:86166644:86170749:86170844:86171208:86171309 | 86170749:86170844 |
exon_skip_260773 | chr2 | 86171208:86171381:86173650:86173761:86179433:86179622 | 86173650:86173761 |
exon_skip_53489 | chr2 | 86166579:86166644:86170749:86170841:86171208:86171309 | 86170749:86170841 |
exon_skip_61392 | chr2 | 86151297:86151520:86153560:86153574:86158592:86158721 | 86153560:86153574 |
exon_skip_62113 | chr2 | 86153560:86153574:86158592:86158721:86159536:86159671 | 86158592:86158721 |
exon_skip_88369 | chr2 | 86171208:86171345:86173650:86173761:86179433:86179622 | 86173650:86173761 |
exon_skip_98339 | chr2 | 86166579:86166644:86170749:86170844:86171208:86171309 | 86170749:86170844 |
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 IMMT |
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 |
ENST00000410111 | 86158592 | 86158721 | Frame-shift |
ENST00000410111 | 86173650 | 86173761 | Frame-shift |
ENST00000410111 | 86153560 | 86153574 | In-frame |
ENST00000410111 | 86170749 | 86170844 | 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 |
ENST00000410111 | 86158592 | 86158721 | Frame-shift |
ENST00000410111 | 86153560 | 86153574 | 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 |
ENST00000410111 | 86158592 | 86158721 | Frame-shift |
ENST00000410111 | 86166508 | 86166644 | Frame-shift |
ENST00000410111 | 86173650 | 86173761 | Frame-shift |
ENST00000410111 | 86147702 | 86147833 | In-frame |
ENST00000410111 | 86153560 | 86153574 | In-frame |
ENST00000410111 | 86170749 | 86170844 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IMMT |
p-ENSG00000132305_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 |
ENST00000410111 | 3018 | 758 | 86170749 | 86170844 | 948 | 1042 | 186 | 218 |
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 |
ENST00000410111 | 3018 | 758 | 86170749 | 86170844 | 948 | 1042 | 186 | 218 |
ENST00000410111 | 3018 | 758 | 86147702 | 86147833 | 1790 | 1920 | 467 | 510 |
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 |
Q16891 | 186 | 218 | 187 | 219 | Alternative sequence | ID=VSP_013221;Note=In isoform 3. EEASSSSIRERPPEEVAARLAQQEKQEQVKIES->A;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
Q16891 | 186 | 218 | 188 | 188 | Alternative sequence | ID=VSP_047362;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
Q16891 | 186 | 218 | 34 | 758 | Chain | ID=PRO_0000084184;Note=MICOS complex subunit MIC60 |
Q16891 | 186 | 218 | 211 | 211 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
Q16891 | 186 | 218 | 65 | 758 | Topological domain | Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q16891 | 186 | 218 | 187 | 219 | Alternative sequence | ID=VSP_013221;Note=In isoform 3. EEASSSSIRERPPEEVAARLAQQEKQEQVKIES->A;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
Q16891 | 186 | 218 | 188 | 188 | Alternative sequence | ID=VSP_047362;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
Q16891 | 186 | 218 | 34 | 758 | Chain | ID=PRO_0000084184;Note=MICOS complex subunit MIC60 |
Q16891 | 186 | 218 | 211 | 211 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
Q16891 | 186 | 218 | 65 | 758 | Topological domain | Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q16891 | 467 | 510 | 34 | 758 | Chain | ID=PRO_0000084184;Note=MICOS complex subunit MIC60 |
Q16891 | 467 | 510 | 65 | 758 | Topological domain | Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in IMMT |
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 |
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SNVs in the skipped exons for IMMT |
- 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 IMMT |
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 IMMT |
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 IMMT |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for IMMT |
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 IMMT |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |