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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 AIFM1 |
 Gene summary |
| Gene information | Gene symbol | AIFM1 | Gene ID | 9131 |
| Gene name | apoptosis inducing factor mitochondria associated 1 | |
| Synonyms | AIF|AUNX1|CMT2D|CMTX4|COWCK|COXPD6|DFNX5|NADMR|NAMSD|PDCD8|SEMDHL | |
| Cytomap | Xq26.1 | |
| Type of gene | protein-coding | |
| Description | apoptosis-inducing factor 1, mitochondrialapoptosis-inducing factor, mitochondrion-associated, 1auditory neuropathy, X-linked recessive 1programmed cell death 8 (apoptosis-inducing factor)striatal apoptosis-inducing factortesticular secretory protein | |
| 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 |
| AIFM1 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 17094969 |
| AIFM1 | GO:0055114 | oxidation-reduction process | 27178839 |
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Gene structures and expression levels for AIFM1 |
| 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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ENSG00000156709
| 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 | ENST00000346424.6 | AIFM1-203:protein_coding:AIFM1 | 1.679695e+02 | -1.141996e+00 | 4.387159e-07 | 7.446155e-06 |
| CB | UP | ENST00000527892.5 | AIFM1-206:nonsense_mediated_decay:AIFM1 | 2.356270e+01 | 8.753798e-01 | 1.072976e-04 | 7.860216e-04 |
| 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 AIFM1 |
| 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_117507 | chrX | 130149469:130149568:130155156:130155286:130156461:130156603 | 130155156:130155286 |
| exon_skip_118772 | chrX | 130155156:130155286:130156461:130156603:130165551:130165664 | 130156461:130156603 |
| exon_skip_185013 | chrX | 130155236:130155286:130156461:130156603:130165551:130165664 | 130156461:130156603 |
| exon_skip_208354 | chrX | 130140533:130140617:130145479:130145569:130147493:130147623 | 130145479:130145569 |
| exon_skip_222152 | chrX | 130137078:130137185:130137323:130137525:130138593:130138701 | 130137323:130137525 |
| exon_skip_276827 | chrX | 130149469:130149568:130155156:130155286:130165551:130165664 | 130155156:130155286 |
| exon_skip_33621 | chrX | 130139795:130139871:130140533:130140617:130145479:130145569 | 130140533:130140617 |
| exon_skip_88209 | chrX | 130149469:130149568:130156461:130156603:130165551:130165664 | 130156461:130156603 |
| 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 AIFM1 |
| 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 |
| ENST00000287295 | 130145479 | 130145569 | Frame-shift |
| ENST00000287295 | 130156461 | 130156603 | 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 |
| ENST00000287295 | 130156461 | 130156603 | 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 |
| ENST00000287295 | 130140533 | 130140617 | Frame-shift |
| ENST00000287295 | 130156461 | 130156603 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for AIFM1 |
p-ENSG00000156709_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 AIFM1 |
| 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 AIFM1 |
| - 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 AIFM1 |
| 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 AIFM1 |
| 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 AIFM1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_276827 | -4.866589e-01 | 2.646541e-08 |
| CB | TIA1 | exon_skip_276827 | 4.661277e-01 | 1.180821e-07 |
| CB | UNK | exon_skip_276827 | 4.122210e-01 | 3.874009e-06 |
| CB | FUBP1 | exon_skip_276827 | -5.072725e-01 | 5.323453e-09 |
| CB | HNRNPA2B1 | exon_skip_276827 | -5.627805e-01 | 3.999369e-11 |
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RelatedDrugs for AIFM1 |
| 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 AIFM1 |
| 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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