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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 MTIF2 |
 Gene summary |
| Gene information | Gene symbol | MTIF2 | Gene ID | 4528 |
| Gene name | mitochondrial translational initiation factor 2 | |
| Synonyms | - | |
| Cytomap | 2p16.1 | |
| Type of gene | protein-coding | |
| Description | translation initiation factor IF-2, mitochondrialIF-2mt | |
| 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 MTIF2 |
| 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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ENSG00000085760
| 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 |
| CB | DOWN | ENST00000394600.7 | MTIF2-203:protein_coding:MTIF2 | 2.030457e+02 | -8.008236e-01 | 1.038265e-07 | 2.192433e-06 |
| CB | UP | ENST00000441307.5 | MTIF2-211:protein_coding:MTIF2 | 1.382617e+00 | 1.205896e+00 | 1.796035e-03 | 8.430751e-03 |
| 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 MTIF2 |
| 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_107179 | chr2 | 55267569:55267635:55268578:55268739:55268817:55269217 | 55268578:55268739 |
| exon_skip_149609 | chr2 | 55244155:55244233:55246337:55246461:55249395:55249534 | 55246337:55246461 |
| exon_skip_20503 | chr2 | 55252576:55252653:55254041:55254201:55254654:55254825 | 55254041:55254201 |
| exon_skip_218610 | chr2 | 55267569:55267635:55268578:55268739:55268817:55269138 | 55268578:55268739 |
| exon_skip_250999 | chr2 | 55252542:55252653:55254654:55254825:55262316:55262427 | 55254654:55254825 |
| exon_skip_268538 | chr2 | 55263837:55263865:55266381:55266518:55267569:55267604 | 55266381:55266518 |
| exon_skip_275452 | chr2 | 55263837:55263865:55267569:55267635:55268578:55268739 | 55267569:55267635 |
| exon_skip_287384 | chr2 | 55252576:55252653:55254654:55254825:55262316:55262427 | 55254654:55254825 |
| exon_skip_288758 | chr2 | 55266381:55266518:55267569:55267635:55268578:55268739 | 55267569:55267635 |
| exon_skip_31546 | chr2 | 55252542:55252653:55254654:55254825:55262316:55262423 | 55254654:55254825 |
| exon_skip_40849 | chr2 | 55249395:55249534:55252477:55252653:55254041:55254201 | 55252477:55252653 |
| exon_skip_63809 | chr2 | 55254041:55254201:55254654:55254825:55262316:55262427 | 55254654:55254825 |
| exon_skip_72386 | chr2 | 55252542:55252653:55254041:55254201:55254654:55254825 | 55254041:55254201 |
| exon_skip_93894 | chr2 | 55236621:55236820:55237288:55237428:55240011:55240175 | 55237288:55237428 |
| 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 MTIF2 |
| 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 |
| ENST00000263629 | 55246337 | 55246461 | Frame-shift |
| ENST00000394600 | 55246337 | 55246461 | Frame-shift |
| ENST00000403721 | 55246337 | 55246461 | Frame-shift |
| ENST00000263629 | 55254041 | 55254201 | Frame-shift |
| ENST00000394600 | 55254041 | 55254201 | Frame-shift |
| ENST00000403721 | 55254041 | 55254201 | Frame-shift |
| ENST00000263629 | 55237288 | 55237428 | In-frame |
| ENST00000394600 | 55237288 | 55237428 | In-frame |
| ENST00000403721 | 55237288 | 55237428 | 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 |
| ENST00000263629 | 55254041 | 55254201 | Frame-shift |
| ENST00000394600 | 55254041 | 55254201 | Frame-shift |
| ENST00000403721 | 55254041 | 55254201 | Frame-shift |
| ENST00000263629 | 55237288 | 55237428 | In-frame |
| ENST00000394600 | 55237288 | 55237428 | In-frame |
| ENST00000403721 | 55237288 | 55237428 | 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 |
| ENST00000263629 | 55267569 | 55267635 | 3UTR-3UTR |
| ENST00000263629 | 55246337 | 55246461 | Frame-shift |
| ENST00000394600 | 55246337 | 55246461 | Frame-shift |
| ENST00000403721 | 55246337 | 55246461 | Frame-shift |
| ENST00000263629 | 55254041 | 55254201 | Frame-shift |
| ENST00000394600 | 55254041 | 55254201 | Frame-shift |
| ENST00000403721 | 55254041 | 55254201 | Frame-shift |
| ENST00000263629 | 55254654 | 55254825 | Frame-shift |
| ENST00000394600 | 55254654 | 55254825 | Frame-shift |
| ENST00000403721 | 55254654 | 55254825 | Frame-shift |
| ENST00000263629 | 55237288 | 55237428 | In-frame |
| ENST00000394600 | 55237288 | 55237428 | In-frame |
| ENST00000403721 | 55237288 | 55237428 | In-frame |
| ENST00000263629 | 55252477 | 55252653 | In-frame |
| ENST00000394600 | 55252477 | 55252653 | In-frame |
| ENST00000403721 | 55252477 | 55252653 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MTIF2 |
p-ENSG00000085760_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 |
| ENST00000263629 | 2545 | 727 | 55237288 | 55237428 | 2187 | 2326 | 623 | 670 |
| ENST00000394600 | 2238 | 727 | 55237288 | 55237428 | 1881 | 2020 | 623 | 670 |
| ENST00000403721 | 2403 | 727 | 55237288 | 55237428 | 2020 | 2159 | 623 | 670 |
| 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 |
| ENST00000263629 | 2545 | 727 | 55237288 | 55237428 | 2187 | 2326 | 623 | 670 |
| ENST00000394600 | 2238 | 727 | 55237288 | 55237428 | 1881 | 2020 | 623 | 670 |
| ENST00000403721 | 2403 | 727 | 55237288 | 55237428 | 2020 | 2159 | 623 | 670 |
| 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 |
| ENST00000263629 | 2545 | 727 | 55252477 | 55252653 | 981 | 1156 | 221 | 280 |
| ENST00000394600 | 2238 | 727 | 55252477 | 55252653 | 675 | 850 | 221 | 280 |
| ENST00000403721 | 2403 | 727 | 55252477 | 55252653 | 814 | 989 | 221 | 280 |
| ENST00000263629 | 2545 | 727 | 55237288 | 55237428 | 2187 | 2326 | 623 | 670 |
| ENST00000394600 | 2238 | 727 | 55237288 | 55237428 | 1881 | 2020 | 623 | 670 |
| ENST00000403721 | 2403 | 727 | 55237288 | 55237428 | 2020 | 2159 | 623 | 670 |
| 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 |
| P46199 | 623 | 670 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| P46199 | 623 | 670 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| P46199 | 623 | 670 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| 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 |
| P46199 | 623 | 670 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| P46199 | 623 | 670 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| P46199 | 623 | 670 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| 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 |
| P46199 | 221 | 280 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| P46199 | 221 | 280 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| P46199 | 221 | 280 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| P46199 | 221 | 280 | 178 | 348 | Domain | Note=tr-type G |
| P46199 | 221 | 280 | 178 | 348 | Domain | Note=tr-type G |
| P46199 | 221 | 280 | 178 | 348 | Domain | Note=tr-type G |
| P46199 | 221 | 280 | 234 | 237 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P46199 | 221 | 280 | 234 | 237 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P46199 | 221 | 280 | 234 | 237 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P46199 | 221 | 280 | 234 | 237 | Region | Note=G3;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P46199 | 221 | 280 | 234 | 237 | Region | Note=G3;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P46199 | 221 | 280 | 234 | 237 | Region | Note=G3;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P46199 | 623 | 670 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| P46199 | 623 | 670 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
| P46199 | 623 | 670 | 30 | 727 | Chain | ID=PRO_0000014480;Note=Translation initiation factor IF-2%2C mitochondrial |
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3'-UTR located exon skipping events that lost miRNA binding sites in MTIF2 |
| 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 | ENST00000263629 | 55267569 | 55267635 | hsa-miR-488-5p | chr2:55267584-55267591 | 8mer-1a | chr2:55267573-55267598 | 151.00 | -22.78 |
| Mayo | ENST00000263629 | 55267569 | 55267635 | hsa-miR-5008-5p | chr2:55267616-55267623 | 8mer-1a | chr2:55267602-55267623 | 167.00 | -30.25 |
| Mayo | ENST00000263629 | 55267569 | 55267635 | hsa-miR-4496 | chr2:55267607-55267614 | 8mer-1a | chr2:55267602-55267623 | 167.00 | -30.25 |
| Mayo | ENST00000263629 | 55267569 | 55267635 | hsa-miR-8077 | chr2:55267591-55267598 | 8mer-1a | chr2:55267573-55267598 | 151.00 | -22.78 |
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SNVs in the skipped exons for MTIF2 |
| - 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 MTIF2 |
| 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 MTIF2 |
| 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 MTIF2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | SNRNP70 | exon_skip_268538 | 4.869786e-01 | 1.289941e-18 |
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RelatedDrugs for MTIF2 |
| 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 MTIF2 |
| 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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